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11.
12.
Anne‐Marie Lamhonwah Simon E. Olpin Rodney J. Pollitt Christine Vianey‐Saban Priscille Divry Nathalie Guffon Guy T. N. Besley Russell Onizuka Linda J. De Meirleir Ljerka Cvitanovic‐Sojat Ivo Baric Carlo Dionisi‐Vici Ksenija Fumic Miljenka Maradin Ingrid Tein 《American journal of medical genetics. Part A》2002,111(3):271-284
Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile‐onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encephalopathy, which is highly responsive to L ‐carnitine therapy. Molecular analysis of the SLC22A5 (OCTN2) gene, encoding the high‐affinity carnitine transporter, was done in 11 affected individuals by direct nucleotide sequencing of polymerase chain reaction products from all 10 exons. Carnitine uptake (at Km of 5 μM) in cultured skin fibroblasts ranged from 1% to 20% of normal controls. Eleven mutations (delF23, N32S, and one 11‐bp duplication in exon 1; R169W in exon 3; a donor splice mutation [IVS3+1 G > A] in intron 3; frameshift mutations in exons 5 and 6; Y401X in exon 7; T440M, T468R and S470F in exon 8) are described. There was no correlation between residual uptake and severity of clinical presentation, suggesting that the wide phenotypic variability is likely related to exogenous stressors exacerbating carnitine deficiency. Most importantly, strict compliance with carnitine from birth appears to prevent the phenotype. © 2002 Wiley‐Liss, Inc. 相似文献
13.
Alyce C. Russell Agnieszka Kepka Irena Trbojević-Akmačić Ivo Ugrina Manshu Song Jennie Hui Michael Hunter Simon M. Laws Gordan Lauc Wei Wang 《Immunobiology》2019,224(1):110-115
Background
Increased body fat may be associated with an increased risk of developing an underlying pro-inflammatory state, thus leading to greater risk of developing certain chronic conditions. Immunoglobulin G has the ability to exert both anti- and pro-inflammatory effects, and the N-glycosylation of the fragment crystallisable portion is involved in mediating this process. Body mass index, a rudimentary yet gold standard indication for body fat, has been shown to be associated with agalactosylated immunoglobulin G N-glycans.Aim
We aimed to determine the association between increased body fat and the immunoglobulin G glycosylation features, comparing body mass index to other measures of body fat distribution.Methods
We investigated a sample of 637 community-based 45–69?year olds, with mixed phenotypes, residing in Busselton, Western Australia. Body mass index and the waist-to-hip and waist-to-height ratios were calculated using anthropometry, while dual-energy x-ray absorptiometry was performed to gain an accurate measure of total and area specific body fat. Serum immunoglobulin GN-glycans were analysed by ultra-performance liquid chromatography.Results
Twenty-two N-glycan peaks were found to be associated with at least one of the fat measures. While the previous association of body mass index to agalactosylated immunoglobulin G was replicated, measures of central adiposity explained the most variation in the immunoglobulin G glycome.Conclusion
Central adiposity is associated with an increased pro-inflammatory fraction of immunoglobulin G, suggesting that the android/gynoid ratio or waist-to-height ratio instead be considered when controlling for adiposity in immunoglobulin G glycome biomarker studies. 相似文献14.
Vermeesch JR Melotte C Salden I Riegel M Trifnov V Polityko A Rumyantseva N Naumchik I Starke H Matthijs G Schinzel A Fryns JP Liehr T 《European journal of medical genetics》2005,48(3):319-327
A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints. 相似文献
15.
Brosens I Gordts S Valkenburg M Puttemans P Campo R Gordts S 《Human reproduction (Oxford, England)》2004,19(8):1689-1692
While the appropriate method for the investigation of female infertility continues to be debated, the timing of the investigation has received less attention. The current approach is time-consuming, and paradoxically may lead to overtreatment as well as undertreatment. Recent findings on fecundity and the conception window in humans have important implications for the timing of the investigation of female infertility. The findings support the view that fertility-oriented intercourse may have a major impact in reducing the time to pregnancy. Procedures for the investigation of female infertility are becoming less invasive and more accurate, while the therapies for infertility are more effective. It is proposed that under appropriate circumstances female infertility should be investigated after 6 months of fertility-oriented intercourse. 相似文献
16.
Steiner I 《Acta medica (Hradec Králové) / Universitas Carolina, Facultas Medica Hradec Králové》2004,47(2):141-145
Karl Rokitansky was born on 19th February 1804 in the historic Czech town of Hradec Králové (K?niggr?tz). During 1821-1824 he studied for 3 years at the medical faculty of Prague University. In the archives of Charles University there is a record of Rokitansky's performance during these three years. At the university he met J. E. Purkyne who was teaching anatomy at that time. Relationship between the two world--renowned medical scientists of Czech origin is discussed. 相似文献
17.
Kessler JH Mommaas B Mutis T Huijbers I Vissers D Benckhuijsen WE Schreuder GM Offringa R Goulmy E Melief CJ van der Burg SH Drijfhout JW 《Human immunology》2003,64(2):245-255
We report the development, validation, and application of competition-based peptide binding assays for 13 prevalent human leukocyte antigen (HLA) class I alleles. The assays are based on peptide binding to HLA molecules on living cells carrying the particular allele. Competition for binding between the test peptide of interest and a fluorescein-labeled HLA class I binding peptide is used as read out. The use of cell membrane-bound HLA class I molecules circumvents the need for laborious biochemical purification of these molecules in soluble form. Previously, we have applied this principle for HLA-A2 and HLA-A3. We now describe the assays for HLA-A1, HLA-A11, HLA-A24, HLA-A68, HLA-B7, HLA-B8, HLA-B14, HLA-B35, HLA-B60, HLA-B61, and HLA-B62. Together with HLA-A2 and HLA-A3, these alleles cover more than 95% of the Caucasian population. Several allele-specific parameters were determined for each assay. Using these assays, we identified novel HLA class I high-affinity binding peptides from HIVpol, p53, PRAME, and minor histocompatibility antigen HA-1. Thus these convenient and accurate peptide-binding assays will be useful for the identification of putative cytotoxic T lymphocyte epitopes presented on a diverse array of HLA class I molecules. 相似文献
18.
Most instruments used to assess poststroke depression have never been specifically validated in stroke patients. This study evaluated the depression screening abilities of three questionnaires and one observer-rated scale in 202 consecutive patients 1 month after they experienced their first-ever ischemic stroke. At their respective optimum cutoff values, the sensitivity of the self-rated scales varied between 80% and 90%, while the specificity was about 60%. For the observer-rated scale (Hamilton Depression Rating Scale), sensitivity was 78.1%, and specificity was 74.6%. The instruments clearly performed better in men than in women. Despite this difference, it was concluded that all scales were acceptable screening instruments for poststroke depression. 相似文献
19.
A standard atlas space with stereotaxic co-ordinates for the postnatal day 0 (P0) C57BL/6J mouse brain was constructed from
the average of eight individual co-registered MR image volumes. Accuracy of registration and morphometric variations in structures
between subjects were analyzed statistically. We also applied this atlas coordinate system to data acquired using different
imaging protocols as well as to a high-resolution histological atlas obtained from separate animals. Mapping accuracy in the
atlas space was examined to determine the applicability of this atlas framework. The results show that the atlas space defined
here provides a stable framework for image registration for P0 normal mouse brains. With an appropriate feature-based co-registration
strategy, the probability atlas can also provide an accurate anatomical map for images acquired using invasive imaging methods.
The atlas templates and the probability map of the anatomical labels are available at . 相似文献
20.
Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity 总被引:14,自引:0,他引:14
Debiec-Rychter M Wasag B Stul M De Wever I Van Oosterom A Hagemeijer A Sciot R 《The Journal of pathology》2004,202(4):430-438
Gastrointestinal stromal tumours (GISTs) are currently defined as mesenchymal tumours of the gastrointestinal tract that express KIT receptor tyrosine kinase. However, a small subgroup of tumours that fulfil the clinical and morphological criteria for GISTs lack KIT expression. So far, the biological features of these tumours have rarely been addressed. The present study describes seven gastrointestinal stromal neoplasms that presented clinicopathological features typical of GISTs but showed absence of CD117 expression as detected by immunohistochemistry. The tumours originated from the stomach (n = 5), duodenum (n = 1), and colon (n = 1), showing histologically either predominantly epithelioid (n = 3), mixed spindled and epithelioid (n = 2), or anaplastic/spindle cell (n = 2) type features. CD34 and alpha-smooth muscle actin (alpha-SMA) positivity was present in four and three tumours, respectively. Chromosomal analysis was performed in two cases, both showing losses of chromosomes 14, 22, and 1p, which is the characteristic feature of GISTs. Dual-colour interphase fluorescence in situ hybridization (FISH) analysis, utilizing chromosome 1p-, 14-, and 22-specific probes, revealed a similar cytogenetic profile in the remaining five tumour specimens. Mutational analysis of exons 9, 11, 13, and 17 of KIT, and exons 12 and 18 of PDGFRA was performed in all cases by denaturing high-pressure liquid chromatography (DHPLC) pre-screening, followed by direct sequencing. None of the tumours showed KIT mutant isoforms. Three tumours harboured PDGFRA exon 18 activating mutations; two were Asp --> Val(842) missense substitutions and one was a DIM842-844 amino acid deletion. KIT and PKC theta (protein activated in interstitial cells of Cajal and GISTs) expression was determined by western immunoblotting of the total cell lysates from three tumour biopsies. None of these three tumours expressed KIT, while all specimens showed expression of PKC theta protein. These findings indicate that there is a subgroup of KIT-negative GISTs that exhibit the same morphological, cytogenetic, and molecular features as KIT-positive tumours. While intragenic PDGFRA activating mutations are present in some of these tumours, the oncogenic events underlying the pathogenesis of the others remain unknown. 相似文献