共查询到20条相似文献,搜索用时 31 毫秒
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Ravi Bansal Lawrence H. Staib Andrew F. Laine Xuejun Hao Dongrong Xu Jun Liu Myrna Weissman Bradley S. Peterson 《PloS one》2012,7(12)
Objective
Diagnoses using imaging-based measures alone offer the hope of improving the accuracy of clinical diagnosis, thereby reducing the costs associated with incorrect treatments. Previous attempts to use brain imaging for diagnosis, however, have had only limited success in diagnosing patients who are independent of the samples used to derive the diagnostic algorithms. We aimed to develop a classification algorithm that can accurately diagnose chronic, well-characterized neuropsychiatric illness in single individuals, given the availability of sufficiently precise delineations of brain regions across several neural systems in anatomical MR images of the brain.Methods
We have developed an automated method to diagnose individuals as having one of various neuropsychiatric illnesses using only anatomical MRI scans. The method employs a semi-supervised learning algorithm that discovers natural groupings of brains based on the spatial patterns of variation in the morphology of the cerebral cortex and other brain regions. We used split-half and leave-one-out cross-validation analyses in large MRI datasets to assess the reproducibility and diagnostic accuracy of those groupings.Results
In MRI datasets from persons with Attention-Deficit/Hyperactivity Disorder, Schizophrenia, Tourette Syndrome, Bipolar Disorder, or persons at high or low familial risk for Major Depressive Disorder, our method discriminated with high specificity and nearly perfect sensitivity the brains of persons who had one specific neuropsychiatric disorder from the brains of healthy participants and the brains of persons who had a different neuropsychiatric disorder.Conclusions
Although the classification algorithm presupposes the availability of precisely delineated brain regions, our findings suggest that patterns of morphological variation across brain surfaces, extracted from MRI scans alone, can successfully diagnose the presence of chronic neuropsychiatric disorders. Extensions of these methods are likely to provide biomarkers that will aid in identifying biological subtypes of those disorders, predicting disease course, and individualizing treatments for a wide range of neuropsychiatric illnesses. 相似文献3.
Diego Garcia-Borreguero Paul Stillman Heike Benes Heiner Buschmann K Ray Chaudhuri Victor M Gonzalez Rodríguez Birgit Högl Ralf Kohnen Giorgio Carlo Monti Karin Stiasny-Kolster Claudia Trenkwalder Anne-Marie Williams Marco Zucconi 《BMC neurology》2011,11(1):1-13
Background
Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common.Methods
The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored task force consisting of experts and primary care practioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms.Results
The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS.Conclusion
The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here. 相似文献4.
Paulo Breinis Flavio Geraldes Alves Camila AE Alves Rafael G Cintra Débora Almeida Priscila C Passarelli Camila Domingues Talita Gerbim Régia Gasparetto Luiz Carlos de Abreu Vitor E Valenti Adriana Gonçalves de Oliveira Carlos Bandeira de Mello Monteiro Rubens Wajnzstejn 《BMC neurology》2014,14(1):1-4
Background
The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case presentation
This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.Conclusions
Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome. 相似文献5.
Caroline Sevin Sacha Ferdinandusse Hans R Waterham Ronald J Wanders Patrick Aubourg 《Orphanet journal of rare diseases》2011,6(1):1-4
Objective
To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).Case report
Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxisomal markers strongly suggested a peroxisomal biogenesis disorder. Sequencing of candidate PEX genes revealed a homozygous c.865_866insA mutation in the PEX2 gene leading to a frameshift 17 codons upstream of the stop codon. PEX gene mutations usually result in a severe neurological phenotype (Zellweger spectrum disorders).Conclusions
Genetic screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ARCA. 相似文献6.
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Yerai Vado Javier Errea-Dorronsoro Isabel Llano-Rivas Nerea Gorria Arrate Pereda Blanca Gener Laura Garcia-Naveda Guiomar Perez de Nanclares 《BMC medical genomics》2018,11(1):124
Background
Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (≈10%).Case presentation
We present a girl with clinical suspicion of SRS (intrauterine and postnatal growth retardation, prominent forehead, triangular face, mild psychomotor delay, transient neonatal hypoglycemia, mild hypotonia and single umbilical artery). Methylation and copy number variations at chromosomes 11 and 7 were studied by methylation-specific multiplex ligation-dependent probe amplification and as no alterations were found, molecular karyotyping was performed. A deletion at 5p15.33p15.2 was identified (arr[GRCh37] 5p15.33p15.2(25942–11644643)×?1), similar to those found in patients with Cri-du-chat Syndrome (CdCS). CdCS is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-), whose main feature is a high-pitched mewing cry in infancy, accompanied by multiple congenital anomalies, intellectual disability, microcephaly and facial dysmorphism.Conclusions
The absence of some CdCS features in the current patient could be due to the fact that in her case the critical regions responsible do not lie within the identified deletion. In fact, a literature review revealed a high degree of concordance between the clinical manifestations of the two syndromes.8.
Agnes A Luty John BJ Kwok Elizabeth M Thompson Peter Blumbergs William S Brooks Clement T Loy Carol Dobson-Stone Peter K Panegyres Jane Hecker Garth A Nicholson Glenda M Halliday Peter R Schofield 《BMC neurology》2008,8(1):1-11
Background
Frontotemporal lobar degeneration (FTLD) represents a clinically, pathologically and genetically heterogenous neurodegenerative disorder, often complicated by neurological signs such as motor neuron-related limb weakness, spasticity and paralysis, parkinsonism and gait disturbances. Linkage to chromosome 9p had been reported for pedigrees with the neurodegenerative disorder, frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND). The objective in this study is to identify the genetic locus in a multi-generational Australian family with FTLD-MND.Methods
Clinical review and standard neuropathological analysis of brain sections from affected pedigree members. Genome-wide scan using microsatellite markers and single nucleotide polymorphism fine mapping. Examination of candidate genes by direct DNA sequencing.Results
Neuropathological examination revealed cytoplasmic deposition of the TDP-43 protein in three affected individuals. Moreover, we identify a family member with clinical Alzheimer's disease, and FTLD-Ubiquitin neuropathology. Genetic linkage and haplotype analyses, defined a critical region between markers D9S169 and D9S1845 on chromosome 9p21. Screening of all candidate genes within this region did not reveal any novel genetic alterations that co-segregate with disease haplotype, suggesting that one individual carrying a meiotic recombination may represent a phenocopy. Re-analysis of linkage data using the new affection status revealed a maximal two-point LOD score of 3.24 and a multipoint LOD score of 3.41 at marker D9S1817. This provides the highest reported LOD scores from a single FTLD-MND pedigree.Conclusion
Our reported increase in the minimal disease region should inform other researchers that the chromosome 9 locus may be more telomeric than predicted by published recombination boundaries. Moreover, the existence of a family member with clinical Alzheimer's disease, and who shares the disease haplotype, highlights the possibility that late-onset AD patients in the other linked pedigrees may be mis-classified as sporadic dementia cases. 相似文献9.
Artak Ghandilyan Umit Baris Kutman Bahar Yildiz Kutman Ismail Cakmak Mark G. M. Aarts 《Plant and Soil》2012,361(1-2):227-239
Aims
Zinc deficiency is a common micronutrient deficiency in plants growing in many different regions of the world and is associated with disturbances in uptake and accumulation of mineral nutrients. Despite many published data on physiological factors affecting ion accumulation in Zn deficient plants, there is very little information about the genetic factors underlying this. We aim to identify genetic loci involved in mineral accumulation and plant performance under Zn deficiency.Methods
Genetic loci were identified using the genetically segregating Ler × Cvi recombinant inbred line (RIL) population grown under Zn deficient conditions. Lines were analysed for the concentrations of Zn, Fe, Mn, K, Ca, Mg, P, Cu, S and Al in shoot dry matter. The same was done for the same lines grown under Zn sufficient conditions.Results
We found considerable heritable variation for most mineral concentrations. In general, there was a positive correlation between mineral concentrations. For Zn only condition-dependent QTLs were identified, while for most other mineral concentrations both condition-dependent and -independent QTLs were identified. Several QTLs co-localize, including co-localization to loci controlling shoot biomass and to mineral concentration loci found previously in this and other RIL populations.Conclusions
There are different genetic loci controlling Zn accumulation under deficient and sufficient Zn supply. Only for few minerals, their accumulation is controlled by Zn-supply-specific loci. 相似文献10.
Key message
We conducted molecular characterization of Nicaraguan Pinus tecunumanii populations using microsatellite markers. Populations possess considerable genetic variation but there are risks associated with inbreeding and population fragmentation.Abstract
We carried out a molecular characterization of three natural populations of Pinus tecunumanii using nine microsatellite markers. All studied populations occur in Nicaragua, where the species has declined primarily due to human-influenced factors. The results showed that there is a high amount of genetic variation in populations (expected heterozygosities 0.775–0.841), populations do not show significant differentiation (mean F ST 0.0073), apparently due to frequent gene flow or a more continuous distribution and homogenous genetic composition in the past, and inbreeding is common in all populations (F IS 0.705–0.780). The Structure analysis revealed that there is no evident clustering pattern among P. tecunumanii individuals. Although all studied populations possess a considerable amount of genetic variation, risks associated with inbreeding and population fragmentation should be acknowledged and a conservation strategy developed to safeguard the genetic resources of P. tecunumanii. 相似文献11.
Francisco Martínez Sandra Monfort Mónica Roselló Silvestre Oltra David Blesa Ramiro Quiroga Sonia Mayo Carmen Orellana 《BMC medical genomics》2010,3(1):1-6
Background
In translational cancer research, gene expression data is collected together with clinical data and genomic data arising from other chip based high throughput technologies. Software tools for the joint analysis of such high dimensional data sets together with clinical data are required.Results
We have developed an open source software tool which provides interactive visualization capability for the integrated analysis of high-dimensional gene expression data together with associated clinical data, array CGH data and SNP array data. The different data types are organized by a comprehensive data manager. Interactive tools are provided for all graphics: heatmaps, dendrograms, barcharts, histograms, eventcharts and a chromosome browser, which displays genetic variations along the genome. All graphics are dynamic and fully linked so that any object selected in a graphic will be highlighted in all other graphics. For exploratory data analysis the software provides unsupervised data analytics like clustering, seriation algorithms and biclustering algorithms.Conclusions
The SEURAT software meets the growing needs of researchers to perform joint analysis of gene expression, genomical and clinical data. 相似文献12.
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Background
With next-generation sequencing technologies, experiments that were considered prohibitive only a few years ago are now possible. However, while these technologies have the ability to produce enormous volumes of data, the sequence reads are prone to error. This poses fundamental hurdles when genetic diversity is investigated.Results
We developed ShoRAH, a computational method for quantifying genetic diversity in a mixed sample and for identifying the individual clones in the population, while accounting for sequencing errors. The software was run on simulated data and on real data obtained in wet lab experiments to assess its reliability.Conclusions
ShoRAH is implemented in C++, Python, and Perl and has been tested under Linux and Mac OS X. Source code is available under the GNU General Public License at http://www.cbg.ethz.ch/software/shorah. 相似文献15.
Munira Borhany Zaen Pahore Zeeshan ul Qadr Muhammad Rehan Arshi Naz Asif Khan Saqib Ansari Tasneem Farzana Muhammad Nadeem Syed Amir Raza Tahir Shamsi 《Orphanet journal of rare diseases》2010,5(1):1-7
Objective
To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.Design
Cross Sectional StudyIntroduction
Countries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes. Here we describe a family, living in village Ali Murad Chandio, District Badin, labeled as haemophilia.Patients & Methods
Our team visited the village & developed the pedigree of the whole extended family, up to seven generations. Performa was filled by incorporating patients, family history of bleeding, signs & symptoms, and bleeding from any site. From them 144 individuals were screened with CBC, bleeding time, platelet aggregation studies & RiCoF. While for PT, APTT, VWF assay and Factor VIII assay, samples were kept frozen at -70 degrees C until tested.Results
The family tree of the seven generations comprises of 533 individuals, 63 subjects died over a period of 20 years and 470 were alive. Out of all those 144 subjects were selected on the basis of the bleeding history. Among them 98(68.1%) were diagnosed to have a bleeding disorder; 44.9% patients were male and 55.1% patients were female. Median age of all the patients was 20.81, range (4 months- 80 yrs). The results of bleeding have shown that majority had gum bleeding, epistaxis and menorrhagia. Most common bleeding disorder was Von Willebrand disease and Platelet functional disorders.Conclusion
Consanguineous marriages keep all the beneficial and adversely affecting recessive genes within the family; in homozygous states. These genes express themselves and result in life threatening diseases. Awareness, education & genetic counseling will be needed to prevent the spread of such common occurrence of these bleeding disorders in the community. 相似文献16.
Jeong-In Baek Se-Kyung Oh Dong-Bin Kim Soo-Young Choi Un-Kyung Kim Kyu-Yup Lee Sang-Heun Lee 《Orphanet journal of rare diseases》2012,7(1):1-10
Background
Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.Methods
We evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We analysed geographical distribution, demographic, genetic and clinical data, age at diagnosis, type, and years of therapy in 436 GD patients from the IP.Results
The prevalence of GD was 1/149,000 inhabitants; 88.3% were type 1, 6.7% type 2, and 5.0% type 3. The mean age at diagnosis in type 1 was 28.7 years. A total of 72.7% were classified as having mild forms, 25.5% moderate, and 1.7% severe. Anemia and thrombocytopenia were present in 56% and 55%, respectively. Bone disease and hepatomegaly were reported in 62% and 68%, respectively, and were more likely in asplenic than in non-splenectomized patients. Sixty-nine mutant alleles were identified, and five mutations accounted for 75% of the GBA alleles. Several patients described in our series had interesting phenotypes. A total of 58.7% of patients had received enzyme replacement therapy and 12.6% were treated with miglustat.Conclusions
A broad spectrum of GBA mutations is present in the IP, with 98.2% of type 1 GD being mild and 23.0% never treated. These data highlight genetic and phenotypic heterogeneities among geographic populations. 相似文献17.
Ingrid Balcells Anna Castelló Anna Mercadé José L Noguera Amanda Fernández-Rodríguez Armand Sànchez Anna Tomàs 《BMC genetics》2011,12(1):1-6
Background
Canine atopic dermatitis (AD) is a common, heritable, chronic allergic skin condition prevalent in the West Highland White Terrier (WHWT). In canine AD, environmental allergens trigger an inflammatory response causing visible skin lesions and chronic pruritus that can lead to secondary bacterial and yeast infections. The disorder shares many of the clinical and histopathological characteristics of human AD and represents an animal model of this disorder that could be used to further elucidate genetic causes of human AD. Microsatellite markers genotyped in families of WHWTs affected with AD were used to perform a genome-wide linkage study in order to isolate chromosomal regions associated with the disorder.Results
Blood samples and health questionnaires were collected from 108 WHWTs spanning three families. A linkage simulation using these 108 dogs showed high power to detect a highly penetrant mutation. Ninety WHWTs were genotyped using markers from the Minimal Screening Set 2 (MSS-2). Two hundred and fifty six markers were informative and were used for linkage analysis. Using a LOD score of 2.7 as a significance threshold, no chromosomal regions were identified with significant linkage to AD. LOD scores greater than 1.0 were located in a 56 cM region of chromosome 7.Conclusions
The study was unable to detect any chromosomal regions significantly linked to canine AD. This could be a result of factors such as environmental modification of phenotype, incorrect assignment of phenotype, a mutation of low penetrance, or incomplete genome coverage. A genome-wide SNP association study in a larger cohort of WHWTs may prove more successful by providing higher density coverage and higher statistical power. 相似文献18.
Background
Asthma is a complex genetic disease with more than 20 genome-wide scans conducted so far. Regions on almost every chromosome have been linked to asthma and several genes have been associated. However, most of these associations are weak and are still awaiting replication.Methods
In this study, we conducted a second-stage genome-wide scan with 408 microsatellite markers on 201 asthma-affected sib pair families and defined clinical subgroups to identify phenotype-genotype relations.Results
The lowest P value for asthma in the total sample was 0.003 on chromosome 11, while several of the clinical subsets reached lower significance levels than in the overall sample. Suggestive evidence for linkage (p = 0.0007) was found for total IgE on chromosomes 1, 7 and again on chromosome 11, as well as for HDM asthma on chromosome 12. Weaker linkage signals could be found on chromosomes 4 and 5 for early onset and HDM, and, newly described, on chromosome 2 for severe asthma and on chromosome 9 for hay fever.Conclusions
This phenotypic dissection underlines the importance of detailed clinical characterisations and the extreme genetic heterogeneity of asthma. 相似文献19.
Madlaina Scharplatz Milo A Puhan Johann Steurer Annalisa Perna Lucas M Bachmann 《Trials》2005,6(1):1-12