bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data
Authors: GHOSH SUJOY , BHAUMIK PRANAMI , GHOSH PRIYANKA , DEY SUBRATA KUMAR 
Published: July 2010

SummaryWe analysed the family linkage data obtained from short tandem repeat (STR) genotyping of 212 unrelated Indian families having a single Down syndrome (DS) baby each, in order to explore the incidence and aetiology of this human aneuploidy in our cohort. The estimated values of maternal meiotic I and meiotic II non-disjunction (NDJ) errors of chromosome 21 (Ch 21) were ~78 and ~22%, respectively. Within the paternal outcome group, about 47 and 53% were accounted for NDJ at meiosis I and meiosis II, respectively. We estimated only ~2% post-zygotic mitotic errors. The comparison of average age of conception between controls and DS-bearing mothers revealed a significant difference (P<0·001) with DS-bearing women were on an average older than controls and meiotic II non-disjoined mothers were oldest among meiotic outcome groups. Our linkage analysis suggested an overall reduction in recombination by more than 50% on meiotic I non-disjoined maternal Ch 21 with error prone to susceptible chiasma formation within the ~5·1 kbp segment near the telomeric end. We stratified meiotic I non-disjoined women in three age groups, viz. young (⩽28 years), middle (29–34 years) and old (⩾35 years) and found linear decrease in the frequency of achiasmate meiosis from the young to the old group. In contrary, a linear increase in the multiple chiasma frequency from the young to the old group was observed. Considering these results together, we propose that the risk factors for Ch 21 NDJ are of two types, one being ‘maternal age-independent’ and the other being ‘maternal age-dependent’. Moreover, a comparison of our present Indian dataset with that of other published data of ethnically different populations suggested that the genetics that underlies the NDJ of Ch 21 is probably universal irrespective of racial difference across human populations. The present study is the first population-based report on any DS cohort from the Indian subcontinent and our work will help future workers in understanding better the aetiology of this birth defect.
Structures of membrane proteins
Authors: Vinothkumar Kutti R. , Henderson Richard 
Published: July 2010

AbstractIn reviewing the structures of membrane proteins determined up to the end of 2009, we present in words and pictures the most informative examples from each family. We group the structures together according to their function and architecture to provide an overview of the major principles and variations on the most common themes. The first structures, determined 20 years ago, were those of naturally abundant proteins with limited conformational variability, and each membrane protein structure determined was a major landmark. With the advent of complete genome sequences and efficient expression systems, there has been an explosion in the rate of membrane protein structure determination, with many classes represented. New structures are published every month and more than 150 unique membrane protein structures have been determined. This review analyses the reasons for this success, discusses the challenges that still lie ahead, and presents a concise summary of the key achievements with illustrated examples selected from each class.
The morphology and biology of Gonatus tinro and Gonatopsis okutanii (Teuthida: Gonatidae) indicate that they are conspecific
Authors: Katugin Oleg N. , Shevtsov Gennadyi A. , Zuev Mikhail A. 
Published: July 2010

Abstract
Katugin, O. N., Shevtsov, G. A., and Zuev, M. A. 2010. The morphology and biology of Gonatus tinro and Gonatopsis okutanii (Teuthida: Gonatidae) indicate that they are conspecific. – ICES Journal of Marine Science, 67: 1464–1477. Distribution, size and maturity patterns, and ontogenetic changes in morphological characters of the squid species Gonatus tinro and Gonatopsis okutanii were examined. The database includes information collected during research surveys to the Sea of Okhotsk and the adjacent Northwest Pacific Ocean from 1972 through 2005. Both species are distributed within the same areas beyond the shelf: G. tinro within a wide range of depths and an active vertical migrant, G. okutanii mostly demersal, characteristic of many adult gonatids. Seasonal changes in size and maturity of G. tinro and G. okutanii are congruent in many respects: G. tinro are usually small and young with hookless tentacle clubs, and squid identified as G. okutanii tend to be larger adults with truncated tentacles. The comparative morphology of the two species and the discovery of individuals bearing external features of both indicate that G. okutanii is an adult stage and G. tinro a young stage of the same species. It is concluded that G. okutanii is a junior synonym of G. tinro, which becomes the valid name by precedence.
Slow Hematological Recovery in Children With IBD‐associated Anemia in Cases of “Expectant Management”
Authors: Pels Lise PM , Van de Vijver Els , Waalkens Herman J , Uitentuis Jan , Jong Gieneke Gonera‐de , van Overbeek Lidy AT , Norbruis Obbe F , Rings Edmond HHM , van Rheenen Patrick F 
Published: July 2010

ABSTRACTBackground and Objective:Allowing children with inflammatory bowel disease (IBD) to live with subnormal hemoglobin (Hb) levels affects their quality of life. The therapeutic approach to normalize Hb varies according to the cause of IBD‐associated anemia. In exclusive iron‐deficiency anemia (IDA) repletion of iron stores is obligatory, whereas controlling inflammation is the treatment of choice for anemia of chronic disease (ACD). In daily practice the focus is on control of intestinal inflammation, and spontaneous hematological recovery is awaited. The aim of the present study was to evaluate the hematological effect of “expectant management” on newly diagnosed pediatric patients with IBD with anemia.Patients and Methods:Medical records of children with IBD were reviewed. Study endpoints were the difference in Hb from the moment of IBD diagnosis (T0) to the end of the induction phase (T1), and time until normalization of Hb, stratified for the type of anemia at T0.Results:A total of 103 children were included in the study, of whom 80 (78%) had anemia at T0. Exclusive IDA was found in 58% of them. Expectant management caused a modest increase in Hb between T0 and T1 for both types of anemia (IDA 0.4 mmol/L; ACD 0.5 mmol/L), but 65 of 80 children (81%) still had anemia at T1. The proportion of children with exclusive IDA had increased to 74%. One third of the cases initially classified as having ACD had progressed to exclusive IDA. There was no significant difference in time until normalization of Hb between children with exclusive IDA and ACD. Twelve months after IBD diagnosis 24% of the group initially diagnosed as having exclusive IDA and 50% of the ACD group were still anemic.Conclusions:Hematological recovery in children with IBD‐associated anemia is slow with expectant management, regardless of the type of anemia at T0. Present results underline the need for a more active approach to improve Hb.
Analysis of Gene Mutations in Children With Cholestasis of Undefined Etiology
Authors: Matte Ursula , Mourya Reena , Miethke Alexander , Liu Cong , Kauffmann Gregory , Moyer Katie , Zhang Kejian , Bezerra Jorge A 
Published: July 2010

ABSTRACTBackground:The discovery of genetic mutations in children with inherited syndromes of intrahepatic cholestasis allows for diagnostic specificity despite similar clinical phenotypes. Here, we aimed to determine whether mutation screening of target genes could assign a molecular diagnosis in children with idiopathic cholestasis.Patients and Methods:DNA samples were obtained from 51 subjects with cholestasis of undefined etiology and surveyed for mutations in the genes SERPINA1, JAG1, ATP8B1, ABCB11, and ABCB4 by a high‐throughput gene chip. Then, the sequence readouts for all 5 genes were analyzed for mutations and correlated with clinical phenotypes. Healthy subjects served as controls.Results:Sequence analysis of the genes identified 14 (or 27%) subjects with missense, nonsense, deletion, and splice site variants associated with disease phenotypes based on the type of mutation and/or biallelic involvement in the JAG1, ATP8B1, ABCB11, or ABCB4 genes. These patients had no syndromic features and could not be differentiated by biochemical markers or histopathology. Among the remaining subjects, 10 (or ∼20%) had sequence variants in ATP8B1 or ABCB11 that involved only 1 allele, 8 had variants not likely to be associated with disease phenotypes, and 19 had no variants that changed amino acid composition.Conclusions:Gene sequence analysis assigned a molecular diagnosis in 27% of subjects with idiopathic cholestasis based on the presence of variants likely to cause disease phenotypes.
Predictors of injury‐related and non‐injury‐related mortality among veterans with alcohol use disorders
Authors: Fudalej Sylwia , Bohnert Amy , Austin Karen , Barry Kristen , Blow Frederic , Ilgen Mark 
Published: July 2010

ABSTRACTAims  To describe the association between alcohol use disorders (AUDs) and mortality and to examine risk factors for and all‐cause, injury‐related and non‐injury‐related mortality among those diagnosed with an AUD.Setting  Department of Veterans Affairs, Veterans Health Administration (VHA).Participants  A cohort of individuals who received health care in VHA during the fiscal year (FY) 2001 (n = 3 944 778), followed from the beginning of FY02 through the end of FY06.Measurements  Demographics and medical diagnoses were obtained from VHA records. Data on mortality were obtained from the National Death Index.Findings  Controlling for age, gender and race and compared to those without AUDs, individuals with AUDs were more likely to die by all causes [hazard ratio (HR) = 2.30], by injury‐related (HR = 3.29) and by non‐injury‐related causes (HR = 2.21). Patients with AUDs died 15 years earlier than individuals without AUDs on average. Among those with AUDs, Caucasian ethnicity and all mental illness diagnoses that were assessed were associated more strongly with injury‐related than non‐injury‐related mortality. Also among those with AUDs, individuals with medical comorbidity and older age were at higher risk for non‐injury related compared to injury‐related mortality.Conclusions  In users of a large health‐care system, a diagnosis of an AUD is associated significantly with increased likelihood of dying by injury and non‐injury causes. Patients with a diagnosis of an AUD who die from injury differ significantly from those who die from other medical conditions. Prevention and intervention programs could focus separately upon selected groups with increased risk for injury or non‐injury‐related death.
Effect of leukotriene B4 and prostaglandin E2 on the adhesion of lymphocytes to endothelial cells
Authors: TO S S T , SCHRIEBER L 
Published: July 2010

SUMMARYThe arachidonic acid metabolites leukotriene B4 (LTB4) and prostaglandin E2 (PGE2) may play an important role in inflammation. It is not known whether these mediators influence the binding of lymphocytes to endothelial cells, a process which is important in the extravasation of lymphocytes in inflammatory states. In the present investigation, the effect of LTB4 and PGE; on the binding interaction between lymphocytes and endothelial cells was examined using a centrifugation cell binding assay. Although LTB4 elicited an aggregation response on human polymorphonuclear leucocytes (PMNL) and enhanced their binding to endothelial cells it had no effect on lymphocyte binding. By contrast, PGE; caused a dose-dependent inhibition of lymphocyte binding to endothelial cells. The inhibitory effect of PGE2 had a rapid onset but was exhibited only when PGE2 was present continuously during the cell binding assay. Although the mechanism by which PGE; acts is not clear, it may provide a negative feedback mechanism in regulating the influx of lymphocytes into inflammatory sites.
Analysis of antibodies to RNA in patients with systemic lupus erythematosus and other autoimmune rheumatic diseases
Authors: BLANCO F , KALSI J , ISENBERG D A 
Published: July 2010

SUMMARYThe frequency and clinical associations of anti-RNA antibodies measured by ELISA were assessed in 138 patients wit h systemic lupus cry thematosus (SLE). Of the sera from these patients 9.4% had anti-RNA antibodies but no distinguishing features, clinical, serological or immunogenetic. between those with or without these antibodies could be identified. However, investigations of patients with other autoimmune rheumatic diseases did not reveal any anti-RNA positivity. which indicates a marked disease specificity for anti-RNA antibodies in SLE. The initial anti-RNA antibody screen used a soluble yeast extract as lest antigen. The positive sera were further tested against a range of RNAs from 10 different types of rat tissue. In essence few differences were observed, suggesting that the anti-RNA response is directed against common, highly conserved epitopes.
CD23/FcεR11 expression in contact sensitivity reactions: a comparison between aeroallergen patch test reactions in atopic dermatitis and the nickel patch test reaction in non-atopic individuals
Authors: BUCKLEY C , IVISON C , POULTER L W , RUSTIN M H A 
Published: July 2010

SUMMARYThe immunopathology of patch test reactions to aeroallergens in patients with atopic dermatitis (AD) has been compared to that of contact sensitivity reactions to nickel in non-atopic individuals. Both reactions were found to exhibit equivalent erythema and induration on gross examination at 48 h. Four millimetre punch biopsies were obtained at 48 h frozen, and cryostat sections stained with a panel of MoAbs. The distribution of macrophages, dermal dendritic cells, Langerhans cells, T lymphocytes and the expression of CD23 antigen was recorded. Increased numbers of dermal dendritic cells, macrophages, T lymphocytes and Langerhans cells were found in the dermal infiltrates of both the nickel patch test reactions and the aeroallergen patch test reactions compared with their respective controls. There were no significant differences between atopic patch test reaction and nickel patch test reaction samples in the tissue distribution of these cell types. There was a significant increase in CD23 expression on Langerhans cells and dermal dendritic cells in the atopic patch test reactions, whereas an increase was only observed on dendritic cells in nickel patch test reactions. No significant difference in CD23 expression was observed in the control skin samples taken from patients with AD, nickel-sensitive patients and normal controls. This study supports the hypothesis that the aeroallergen patch test reaction in atopic dermatitis is a delayed hypersensitivity reaction, yet is distinct from the contact sensitivity reaction to nickel in terms of raised expression of CD23.
A type 2 (Th2-like) pattern of immune response predominates in the pulmonary interstitium of patients with cryptogenic fibrosing alveolitis (CFA)
Authors: Wallace W A H , Ramage E A , Lamb D , Howie S E M 
Published: July 2010

SUMMARYCFA is an inflammatory condition of the lungs resulting in scarring, pulmonary failure and death. The etiology of the disease is unknown, but the pathogenesis is believed to involve a persistent immunological reaction to unidentified antigen in the lung resulting in tissue damage. Recent advances in our understanding of the immune system have shown that different patterns of stimulatory cytokines are produced at sites of inflammation by a range of cell types. Patterns of cytokine production by inflammatory cells are recognized to be associated with different patterns of immunological response, and these have been described as type 1 (or Th1-like) and type 2 (or Th2-like) on this basis. We have studied cytokine expression in the intestinal inflammatory cell infiltrate in lung tissue from patients with CFA using mRNA in situ hybridization and immunohistochemistry. Our results show that while there is evidence for both a type 1 (characterized by interferon-gamma (IFN-γ)) and type 2 (characterized by IL-4 and IL-5) response present in CFA, the type 2 (or Th2) pattern of cytokines appears to predominate. This would be consistent with a possible role for the humoral immune response in the pathogenesis of this condition. In addition, recent evidence suggests that IL-4 and IFN-γ may be important regulatory factors for pulmonary fibroblasts. The relative paucity of IFN-γ may contribute to the excessive fibroblast activation, deposition of collagen and scar formation that occurs in CFA.
Cell cycling in HIV infection: analysis ofin vivoactivated lymphocytes
Authors: Mahalingam M , Pozniak A , Mcmanus T J , Vergani D , Peakman M 
Published: July 2010

SUMMARYInfection with HIV results in increased circulating levels of T lymphocytes expressing phenotypic markers of immune activation. In the present study, using three-colour immunofluorescence, we examined the cell cycle status of these activated cells. Activated (HLA-DR+ CD25+ and CD38+) CD4+ and CD8+ T lymphocytes in peripheral blood were analysed for DNA content in 15 HIV + patients and 10 healthy age- and sex-matched control subjects. As expected, all HIV+ patients had elevated percentage levels of activated CD4+ HLA-DR+, CD4+ CD25+ CD8+ HLA-DR+ CD8+ CD25+ and CD8+ CD38+ T lymphocytes compared with control subjects (P&lt;0.001 for all). Percentage levels of CD4+ HLA-DR+ and CD8+ HLA-DR+ T lymphocytes in the ‘proliferative’(S-G2M) phase of the cell cycle were also higher in the HIV+” patients compared with controls (P&lt;0.001 for both). The percentage levels of proliferative CD4+ CD25+ CD8+ CD25+ and CD8+ CD38+ lymphocytes were, however, similar in HIV+ patients and controls, indicating that the proliferative fraction of cells in vivo was confined to the HLA-DR+ subset and absent from the CD25+ and CD38+ populations. Four HIV+ patients had grossly elevated levels of CD8+ lymphocytes which were CD38+(&gt;95%) and confined to the pre-G0-G1 phase of the cell cycle, suggesting these may be cells committed to apoptosis. These observations indicate an increase in the proliferative capacity of HLA-DR+ T lymphocytes in HIV infection in vivo. The reduced DNA content in other populations (e.g. CD38+ CD8+ lymphocytes) of some patients with advanced HIV disease suggests that these cells are apoptotic. Thus our results define both proliferative and apoptotic processes as a spectrum of activation-related events in HIV infection.
Pectinesterase Activity and Proximate Analyses of Sea Buckthorn Juices
Authors: Harrison Judith E. , Beveridge Thomas H. J. 
Published: July 2010

ASTRACTThree varieties of sea buckthorn fruit were harvested and pressed to obtain juices. These were analyzed for pectin methylesterase activity, moisture, nitrogen, oil, pH, total acid, and °Brix. Yields of press juice for Hippophae rhamnoides ssp. rhamnoides L. varieties Luchistaya, Prozrachnaya, and ssp. mongolica Rousi cv. Indian Summer were 68%, 69%, and 66% w/w, respectively. Differences in juice composition were found to be in moisture content, °Brix, pH, and in total acid with the Luchistaya variety having the highest acid levels and lowest pH. Pectin methylesterase (PME) was present in all sea buckthorn juices with initial activity levels of 6.8 to 14.0 μ equivalents per min per 100 g of juice at pH 8 and 23 °C. Activity was pH‐dependent with little PME activity at pH 3 to 5 and the highest activity at pH 8. The cream, pellet, and serum layers of centrifuged juices all contained PME. Heat treatment reduced PME activity in the juices by 1 decimal reduction or less.
Determination of Anabolic Steroid Residues (Medroxyprogesterone Acetate) in Pork by ELISA and Comparison with Liquid Chromatography Tandem Mass Spectrometry
Authors: Chifang Peng , Chuanlai Xu , Zhengyu Jin , Xiaogang Chu , Liying Wang 
Published: July 2010

ABSTRACT:Medroxyprogesterone acetate (MPA) has a relative molecular mass of only 344.5 and it has no immunogenicity. The analytical methods for the carbodiimides and the mixed anhydride were both adopted to couple MPA with bovine serum albumin, the carrier protein. The coupling rates of conjugate using the above methods were estimated to be 14 and 20 by ultraviolet spectrophotometry. The coupling was successful and verified according to sodium dodecyl sulfate‐polyacrylamide gel electrophoresis (SDS‐PAGE) analysis. New Zealand White rabbits were immunized with the conjugate, the coupling rate of which was 14, and blood was collected after 5 periods of immunities. Then the titer of antiserum was tested to be 2.6 X 105 by indirect enzyme‐linked immunosorbent assay (ELISA). Based on the purified antibody, a competitive indirect ELISA was developed. ELISAs provided a limit of detection of 0.096 ng/g, recoveries (in the edible tissues) between 72% and 91%, and a working range of 0.1 to 8.1 ng/g. Preliminary evaluation of assay performance through specificity, sensitivity, precision, and accuracy showed that this ELISA method can be applied to the practical detection of MPA in tissue samples. Moreover, it was compared with liquid chromatography tandem mass spectrometry (LC/MS/MS). The ion pair for quantification of MPA was 345.2/123.1, and the linear equation of MPA was Y = 6.68 X 103 X + 6.63 X 102. The 2 analytical methods can be applied to monitor MPA and other steroid residues in edible foods.
Effect of Cheese pH and Temperature on Serum Phase Characteristics of Cream Cheese During Storage
Authors: Gigante Mirna L. , Almena‐Aliste Montserrat , Kindstedt Paul S. 
Published: July 2010

ABSTRACT:Three 13.6‐kg blocks of cultured cream cheese manufactured on different days were obtained from a commercial source within 2 wk of manufacture. Blocks were sectioned into samples that were randomly assigned to 3 treatments. A model system was used to change cheese pH. One group of samples was exposed to volatile ammonia to increase the pH to about 5.3. A 2nd group was exposed to volatile acetic acid to decrease the pH to about 4.5. A 3rd group served as a control (pH about 4.8). Samples from each pH treatment were vacuum‐packaged and randomly assigned to 1 of 2 storage temperatures: 4 °C and 20 °C. Samples were randomly chosen for analysis after 4, 8, 12, 16, 20, 24, and 28 d of storage and centrifuged at 12500 ±g for 75 min at 25 °C to obtain expressible serum (ES). The ES was analyzed for viscosity at 25 °C. Effects of pH treatment, storage time, and storage temperature were evaluated by analysis of variance (ANOVA) according to a split split‐plot design. The amount of ES increased significantly during storage and was affected by storage temperature and cheese pH. Significantly more ES was obtained at higher temperature and higher pH. Viscosity of ES decreased significantly during storage and was affected by storage temperature and cheese pH. Viscosity decreased more rapidly at higher temperature and higher pH. The data suggest that higher temperature and higher pH resulted in accelerated loss of stabilizer function during storage, possibly due to microbiological degradation of the stabilizer.