bluuebunny/crossref_metadata_2025_split huggingface dataset:
A neuropsychological assessment of frontal cognitive functions in Prader–Willi syndrome
Authors: Jauregi J. , Arias C. , Vegas O. , Alén F. , Martinez S. , Copet P. , Thuilleaux D. 
Published: January 2007

AbstractBackground  Prader–Willi syndrome (PWS) is associated with a characteristic behavioural phenotype whose main features are, alongside compulsive hyperphagia, deficits in social behaviour: social withdrawal, temper tantrums, perseverative speech and behaviour, mental rigidity, stereotyped behaviour, impulsiveness, etc. Similar symptoms may also be found in autistic spectrum disorders and lesional pathologies of the frontal lobe. In both cases, such symptoms have been related to dysfunctions in frontal cognitive processes such as attention, working memory and executive functions. This study uses standardized neuropsychological instruments to analyse the degree to which these processes are affected in PWS.Methods  The sample comprised 16 individuals with a genetically confirmed PWS diagnosis. Subjects’ IQ (Wechsler Adult Intelligence Scale), academic level, laterality and body mass index (BMI) were calculated. Attention, memory and executive functions were analysed using standard, widely employed neuropsychological tests. We compared the results of the sample group with the general population. Correlation analyses were carried out with IQ, academic level and BMI.Results  In all the neuropsychological measures focusing on attention, executive functions and visuoperceptual organization, the study sample scored significantly lower than the normative reference population. The scores of the tests used for measuring immediate memory were also significantly lower when trials required sequential processing, although not when they required simultaneous processing. In the memorization of a list of words, subjects showed an initial deficit which disappeared with repetition, enabling them to obtain scores similar to the reference population. No significant correlations were found with BMI, and a higher IQ or academic level did not improve scores in the majority of tests.Conclusions  The study shows a deficit in elementary frontal cognitive processes in PWS patients. This deficit may be involved in the social behaviour disorders that characterize such patients, as described in other development or frontal syndrome pathologies. However, we cannot affirm that the deficits found are specific to PWS; they could also occur in other causes of intellectual disability. Although in the study sample IQ did not correlate with frontal deficits, further research is needed to establish whether the neuropsychological alterations described form part of a cognitive phenotype for PWS. We believe that our understanding of the social behaviours typical of PWS may be improved by taking into consideration the cognitive functioning models of the prefrontal lobe, particularly those applied to pervasive developmental disorders.
Policy, service pathways and mortality: a 10‐year longitudinal study of people with profound intellectual and multiple disabilities
Authors: Hogg J. , Juhlberg K. , Lambe L. 
Published: January 2007

AbstractBackground One hundred and forty‐two children and adults with profound intellectual and multiple disabilities were identified in 1993 in a single Scottish region on whom detailed information was collected via a postal questionnaire survey.Methods They were followed up in 2003. The time spanned represented a period of significant policy change in which community care and inclusive policies were implemented.Results Of the original population of 142, 30 (21.1%) had died in the intervening period and two had left the area, allowing follow‐up information to be collected on 110 individuals. While in line with policy, all those living in hospital and hostels in 1993 had been relocated by 2003 to community settings, a substantial proportion had moved into other forms of congregate care, notably nursing homes. Overall, the proportion in congregate care increased from 38% in 1993 to 43% in 2003. The second principal providers were family carers, with the proportion of those living at home also increasing from 33% to 40%. Provision in group houses increased from 6.3% to 15.5%. Day service provision remained based on a traditional centre‐based model. The principal cause of death was respiratory disease. Survivors in 2003 were in 1993 more competent in personal self‐help and motor abilities and were less likely to have epilepsy.Conclusions The findings are considered with respect to the extent to which they realize policy aspirations.
A preliminary study of the validity of memory tests recommended by the Working Group for individuals with moderate to severe intellectual disability
Authors: Pyo G. , Kripakaran K. , Curtis K. , Curtis R. , Markwell S. 
Published: January 2007

AbstractBackground  Normal aging and Dementia of Alzheimer’s Type (DAT) among higher functioning individuals with intellectual disability (ID) have been relatively well studied using a variety of cognitive tests. However, cognitive studies for lower functioning individuals with ID are scarce in the literature. The Working Group recommended the Test Battery for the Diagnosis of Dementia in Individuals with various level of ID. Few studies have investigated whether the Test Battery is useful to study dementia among individuals with moderate to severe ID. The purpose of this study is to investigate whether the memory subtests of the Test Battery are useful for measuring memory function and studying DAT in individuals with moderate to severe ID.Methods  We compared performances on the memory subtests in the Test Battery between 31 normal controls and 13 DAT patients with moderate to severe ID. Performance on the Picture Recognition Test was also compared between five normal controls and five DAT patients. This test was designed by our team to measure memory functions of individuals with moderate to severe ID.Results  Among the memory subtests of the Test Battery, the Autobiographical Memory and the Orientation were found to be useful for studying normal and abnormal aging among individuals with moderate to severe ID. Preliminary data for the Picture Recognition Test demonstrated that these individuals properly responded to this test and the majority of DAT patients could be differentiated from the normal controls based on their performance.Conclusions  Further studies are necessary to improve usefulness of the memory subtests of the Test Battery for lower functioning individuals with ID. While the results suggest that the Picture Recognition Test may be more effective in discriminating individuals with DAT, given the very small sample sizes, a study with larger sample sizes should be undertaken to validate these findings.
Developing health indicators for people with intellectual disabilities. The method of the Pomona project
Authors: Van Schrojenstein Lantman‐de Valk H. , Linehan C. , Kerr M. , Noonan‐Walsh P. 
Published: January 2007

AbstractAim  Recently, attention has focused on the health inequalities experienced by people with intellectual disabilities (ID) when compared with the general population. To inform policies aimed at equalizing health opportunities, comparable evidence is needed about the aspects of their health that may be amenable to intervention.Method  Applying the framework of the European Community Health Indicators (ECHI) for the general population, the Pomona group developed a set of health indicators reflecting aspects of the health of people with ID: socio‐demographic data, health status, health determinants and health systems.Results  This paper documents the procedures that partners carried out in 13 European countries. The process comprised a search for evidence in published literature; consultation with advocates, family members and health professionals; and analyses of national and international databases. Indicators were selected if they were appraised as important, useful, measurable and if resulting data would enable comparisons between the health of people with ID and that of the general population.Conclusion  The thus developed indicator set that is aligned with ECHI will permit investigators to compare key aspects of health of people with ID with those of people in the general population within Europe. The final set of 18 indicators will be applied in the Pomona 2 project (2005–08) to gather information about the health of samples of adults in 14 participating European countries.
Eustasy and sea water Sr composition: application to high‐resolution Sr‐isotope stratigraphy of Miocene shallow‐water carbonates
Authors: KROEGER K.F. , REUTER M. , FORST M.H. , BREISIG S. , HARTMANN G. , BRACHERT T.C. 
Published: January 2007

AbstractOceanic 87Sr/86Sr‐isotope ratios are strongly influenced by rates of silicate weathering and therefore linked not only to glaciation but also to sea‐level change. The present study combines analysis of sequence stratigraphy and basin architecture with Sr‐isotope stratigraphy in Miocene shallow‐water sediments in southern Portugal and Crete (Greece). The common method is to use smoothed global sea water Sr‐isotope reference curves but here a different approach is chosen. Instead, measured Sr‐isotope curves are correlated with unsmoothed reference curves by identification of similar fluctuations in the order of several 100 kyr. Transgressive intervals are characterized by increasing Sr‐isotope ratios interpreted as corresponding to intensified silicate weathering as a consequence of deglaciation, while lowstand deposits have low Sr‐isotope ratios. Comparison of Sr‐isotope curves and sedimentary sequences in the studied basins with independent global δ18O data and data on global sea‐level might suggest a general relationship, supporting a connection to global climate change. Because of these relationships, the method presented herein has a high potential for use in high‐resolution age dating and is also applicable in shallow‐water sediments.
Polymorphisms of human leucocyte antigen genes in Maonan people in China
Authors: Ogata S. , Shi L. , Matsushita M. , Yu L. , Huang X. Q. , Shi L. , Sun H. , Ohashi J. , Muramatsu M. , Tokunaga K. , Chu J. Y. 
Published: January 2007

AbstractWe examined human leucocyte antigen (HLA) gene polymorphisms in the Maonan people from southern China. HLA‐A, ‐B and ‐DRB1 alleles were determined in 108 healthy unrelated Maonan individuals by the polymerase chain reaction‐Luminex method, and haplotype frequencies for HLA‐A, ‐B and ‐DRB1 loci were estimated. The most frequent HLA‐A alleles were A*1101 (35.2%), A*0203 (17.6%), A*0207 (13.4%) and A*2402 (13.4%); HLA‐B alleles were B*1301(19.9%), B*1502 (14.8%), B*4601 (13.4%) and B*4001 (13.4%); HLA‐DRB1 alleles were DRB1*1202 (17.1%), DRB1*1602 (13.0%) and DRB1*1401 (10.7%). The most common haplotypes were A*0207‐B*4601 (10.6%), A*1101‐B*1301 (10.0%), A*1101‐B*4001 (8.4%), B*1502‐DRB1*1202 (12.0%), B*4601‐DRB1*1401 (5.8%), A*1101‐B*1502‐DRB1*1202 (7.1%) and A*0207‐B*4601‐DRB1*1401 (5.3%), profiles that are also found in populations from the southern region of East Asia. Phylogenetic and principal component analyses revealed that the Maonan people belong to the southeastern Asian group and are most closely related to the Buyi people.
Characterization of HKE2: an ancient antigen encoded in the major histocompatibility complex
Authors: Ostrov D. A. , Barnes C. L. , Smith L. E. , Binns S. , Brusko T. M. , Brown A. C. , Quint P. S. , Litherland S. A. , Roopenian D. C. , Iczkowski K. A. 
Published: January 2007

AbstractGenes at the centromeric end of the human leukocyte antigen region influence adaptive autoimmune diseases and cancer. In this study, we characterized protein expression of HKE2, a gene located in the centromeric portion of the class II region of the major histocompatibility complex encoding subunit 6 of prefoldin. Immunohistochemical analysis using an anti‐HKE2 antibody indicated that HKE2 protein expression is dramatically upregulated as a consequence of activation. In a tissue microarray and in several tumors, HKE2 was overexpressed in certain cancers compared with normal counterparts. The localization of the HKE2 gene to the class II region, its cytoplasmic expression and putative protein‐binding domain suggest that HKE2 may function in adaptive immunity and cancer.
Primary sclerosing cholangitis is associated with extended HLA‐DR3 and HLA‐DR6 haplotypes
Authors: Wiencke K. , Karlsen T. H. , Boberg K. M. , Thorsby E. , Schrumpf E. , Lie B. A. , Spurkland A. 
Published: January 2007

AbstractPrimary sclerosing cholangitis (PSC) is associated with the human leukocyte antigen (HLA)‐DRB1*0301‐DQA1*0501‐DQB1*0201 (DR3) and HLA‐DRB1*1301‐DQA1*0103‐DQB1*0603 (DR6) haplotypes. Recently, the extended HLA class I region has been found to harbour genes that modulate or confer susceptibility independently of the HLA class II genes in several immune‐mediated diseases. The aim of the present study was to evaluate the influence of genes in the extended HLA class I region on susceptibility to PSC. Seven microsatellite markers (MIB, D6S265, D6S2222, D6S464, D6S2223, D6S2225 and D6S2239) were analysed together with HLA class II alleles in 219 Norwegian patients with PSC and 282 random controls. To control for associations because of linkage disequilibrium (LD), 142 HLA‐DR3 homozygous and 187 DR6‐positive controls were included. The unstratified analysis showed significant associations with the alleles MIB*349 [odds ratio (OR) = 3.0, corrected P value (Pc) = 3 × 10−12], D6S265*122 (OR = 1.7, Pc= 0.004), D6S464*209 (OR = 1.8, Pc= 0.03) and D6S2225*147 (OR = 2.7, Pc= 4 × 10−6), which were mainly secondary to the DR3 association. When stratifying for DR6, an association with the D6S265*122 allele was still observed (OR = 3.7, Pc= 0.0004). In the presence of the D6S265*122 allele, the risk to develop PSC conferred by DR6 was increased four times compared with the risk conferred by DR6 alone. In addition, a novel negative association of PSC with DR11 was observed (OR = 0.21, Pc= 2 × 10−4). In conclusion, our study shows that a gene in LD with D6S265 contributes to susceptibility to develop PSC in individuals carrying DR6. Moreover, we found that the PSC‐associated DR3 haplotype extends more telomeric than that previously reported. We also report a possible protective effect of DR11 on development of PSC.
Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population
Authors: Kaur G. , Rapthap C. C. , Kumar N. , Kumar S. , Neolia S. , Mehra N. K. 
Published: January 2007

AbstractThe allelic and genotype frequencies corresponding to 22 single nucleotide polymorphisms (SNPs) in 13 cytokine genes interleukin (IL) 1‐α (T/C −889), IL1‐β (C/T −511, T/C +3962), IL12 (C/A −1188), interferon‐γ (A/T UTR 5644), transforming growth factor‐β (C/T codon 10, G/C codon 25), tumour necrosis factor‐α (G/A −308, G/A −238), IL2 (T/G −330, G/T +160), IL4 (T/G −1098, T/C −590, T/C −33), IL6 (G/C −174, G/A nt 565), IL10 (G/A −1082, C/T −819, C/A −592), IL1R (C/T pst11970), IL1RA (T/C mspa111100) and IL4RA (G/A +1902) were determined in 130 healthy North Indian subjects. All genomic typings were performed with polymerase chain reaction with sequence‐specific assays. An analysis of the allelic and haplotype frequencies in the North Indian population showed a good fit with the Hardy–Weinberg equilibrium for most of the SNPs. The data can be used for anthropological comparisons, as well as for association studies with different diseases and for use in transplant situations involving acute and chronic rejection.
Haplotype‐specific extraction: a universal method to resolve ambiguous genotypes and detect new alleles – demonstrated on HLA‐B
Authors: Nagy M. , Entz P. , Otremba P. , Schoenemann C. , Murphy N. , Dapprich J. 
Published: January 2007

AbstractHaplotype‐specific extraction (HSE) allows the collection of individual alleles by separating diploid samples into their haploid components. The separation step is performed using magnetic beads in conjunction with allele‐group‐specific probes. The haplo‐separated DNA samples can be directly typed with downstream applications such as sequence‐specific oligonucleotide (SSO) typing, sequence‐specific primer (SSP) typing, and sequence‐based (SB) typing. Here we show that HSE permits the direct sequencing of an allele in its individual, separated state, including previously unknown alleles. Allele pair combinations that cannot be resolved by SSP, SSO, or generic SB typings can be unambiguously typed after the alleles are separated by HSE, which allows for new alleles to be easily detected without cloning. We show how HSE was performed to separate samples with locus‐specific ambiguities in human leukocyte antigen (HLA)‐B, which could not be resolved by means of generic SB typing for either sample. After haplotype‐specific separation of the respective allele pairs, novel polymorphisms in the HLA‐B*56 and HLA‐B*44 alleles were clearly detected by SB typing.
HLA‐E*0101 and HLA‐G*010101 reduce the risk of Behcet’s disease
Authors: Park K. S. , Park J. S. , Nam J. H. , Bang D. , Sohn S. , Lee E. S. 
Published: January 2007

AbstractThe nonclassical human leukocyte antigen (HLA)‐E and ‐G molecules have previously been shown to inhibit natural killer‐ and cytotoxic T‐lymphocyte‐mediated cell lysis and have also been shown to prevent the proliferation of CD4 T cells and secrete cytokines that appear to be important in the modulation of the Behcet’s disease (BD) immune systems. Polymorphisms in the HLA‐E and HLA‐G genes have been associated with differential expression and function. Thus, we conducted an analysis of the HLA‐E and HLA‐G alleles using Amplification Refractory Mutation System‐polymerase chain reaction (PCR) and PCR‐restriction fragment length polymorphism techniques in a study comprising 312 patients with BD and 486 controls. The HLA‐E*0101 and HLA‐G*010101 alleles were associated with a reduced risk of BD (P = 0.0002, odds ratio (OR) = 0.7 and P = 0.002, OR = 0.7, respectively). By way of contrast, the variants HLA‐E*010302, HLA‐G*010102, G*0105N alleles and 3741_3754ins14bp were all associated with an increased risk of BD (P < 0.0001, OR = 1.6; P = 0.002, OR = 1.8; P = 0.024, OR = 2.0 and P = 0.003, OR = 1.4, respectively). Individuals carrying both the HLA‐E*0101 and the HLA‐G*010101 alleles evidenced significantly lower frequency in the patients than in the controls (35.6% vs 49.6%; P < 0.0001, OR = 0.6). These results indicate that variant HLA‐E and HLA‐G molecules appear to function independently and synergistically, increasing the risk of BD, and may result in an imbalance of lymphocytic functions, which may culminate in the development of BD.
Immunogenetics of ocular inflammatory disease
Authors: Levinson R. D. 
Published: January 2007

AbstractOcular inflammatory disease comprises of a diverse group of clinical entities that may result from autoimmune processes, infections, or both. While many individual ocular inflammatory diseases are quite rare, ocular inflammation is one of the more common causes of visual disability, including blindness, in the developed world. Better understanding of ocular inflammatory disease is an important step in designing more sophisticated therapies that may help prevent loss of visual function for these patients.
Association between hepatitis B virus infection and HLA‐DRB1 genotyping in Shaanxi Han patients in northwestern China
Authors: Yang G. , Liu J. , Han S. , Xie H. , Du R. , Yan Y. , Xu D. , Fan D. 
Published: January 2007

AbstractHepatitis B virus (HBV) infection is a major public health problem worldwide. The mechanism of susceptibility to chronic persistent HBV infection is not well clarified, while the outcome of HBV infection mainly depends on the host immune response. Human leukocyte antigen (HLA) class II molecule is an integral component of the immune response on which majority of host genetic studies have concentrated. Many different HLA class II alleles have been demonstrated to play roles in HBV infection. In this study, the association between HBV infection and HLA‐DRB1 alleles in Han individuals in northwestern China was studied for the first time. Two hundred and fifty Shaanxi Han individuals were categorized into three different groups: the HBV‐infected patient group (n = 108), the spontaneously cleared control group (n = 108) and the unexposed group (n = 34). DRB1*04, DRB1*09, DRB1*12 and DRB1*15 were the most common genotypes in all the groups. The allele frequencies of HLA‐DRB1*03 [10.6% of HBV‐infected patients vs 3.7% of spontaneously cleared controls, odds ratios (OR) = 3.10, Pc = 0.008, P < 0.05] and HLA‐DRB1*07 (17.6% of HBV‐infected patients vs 9.3% of spontaneously cleared controls, Pc = 0.016, OR = 2.09, P < 0.05) were markedly higher in the HBV‐infected group. But the allele frequencies of HLA‐DRB1*15 (6.9% of HBV‐infected patients vs 13.4% of spontaneously cleared controls Pc = 0.039, OR = 0.48, P < 0.05) were obviously lower than that of the spontaneously cleared controls. The above data indicate that HLA‐DRB1*03 and HLA‐DRB1*07 are related to susceptibility to chronic HBV infection, and DRB1*15 is negatively related to persistence to chronic HBV infection among people in northwestern China. Similar results were got for DRB1*03 and 15 alleles between the HBV‐infected patients (n = 108) and 46 HBV seronegative spouses of the HBV patients, who were high‐risk group for HBV infection. The above results suggest that host HLA class II gene is an important factor in determination of the outcome of HBV infection.
Insulin gene VNTR, CTLA‐4 +49A/G and HLA‐DQB1 alleles distinguish latent autoimmune diabetes in adults from type 1 diabetes and from type 2 diabetes group
Authors: Haller K. , Kisand K. , Pisarev H. , Salur L. , Laisk T. , Nemvalts V. , Uibo R. 
Published: January 2007

AbstractRecent research has underlined the need to explore pathogenic, genetic and clinical spectrum of adult onset autoimmune diabetes, also known as latent autoimmune diabetes in adults (LADA). We aimed to investigate whether genetic factors that are associated with type 1 diabetes (T1D) susceptibility, namely HLA‐DQB1 alleles, cytotoxic T‐lymphocyte antigen 4 gene (CTLA‐4) and insulin gene (INS) polymorphisms, are also associated with an atypical subset of patients diagnosed with type 2 diabetes (T2D). The case–control study included 70 T1D, 305 T2D and 252 nondiabetic controls. The T2D group was divided into atypical T2D (LADA, n = 61) or typical T2D (n = 244) subgroups based on the presence of at least one pancreas‐specific antibody. Our data suggested that HLA‐DQB1 alleles of all three risk classes, INS variable number of tandem repeat (VNTR) I/I and CTLA‐4 +49 GG or AG genotypes, were independent risk factors for developing LADA and could be used as a diagnostic tool to discriminate between LADA and T2D. Additionally, there was an increased association between LADA and CTLA‐4 diabetes‐susceptibility genotypes and decreased association with INS VNTR and high‐risk HLA‐DQB1 alleles, compared with T1D. Our study suggested the need for further investigation into the genetic background and functional genomics of LADA in comparison with T1D and T2D.