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  1 / 1868 MEDLINE  
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[PMID]:24534757
[Au] Autor:Oparina NY; Delgado-Vega AM; Martinez-Bueno M; Magro-Checa C; Fernández C; Castro RO; Pons-Estel BA; D'Alfonso S; Sebastiani GD; Witte T; Lauwerys BR; Endreffy E; Kovács L; Escudero A; López-Pedrera C; Vasconcelos C; da Silva BM; Frostegård J; Truedsson L; Martin J; Raya E; Ortego-Centeno N; de Los Angeles Aguirre M; de Ramón Garrido E; Palma MJ; Alarcon-Riquelme ME; Kozyrev SV
[Ad] Endereço:Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
[Ti] Título:PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.
[So] Source:Ann Rheum Dis;74(3):e14, 2015 Mar.
[Is] ISSN:1468-2060
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To perform fine mapping of the PXK locus associated with systemic lupus erythematosus (SLE) and study functional effects that lead to susceptibility to the disease. METHODS: Linkage disequilibrium (LD) mapping was conducted by using 1251 SNPs (single nucleotide polymorphism) covering a 862 kb genomic region on 3p14.3 comprising the PXK locus in 1467 SLE patients and 2377 controls of European origin. Tag SNPs and genotypes imputed with IMPUTE2 were tested for association by using SNPTEST and PLINK. The expression QTLs data included three independent datasets for lymphoblastoid cells of European donors: HapMap3, MuTHER and the cross-platform eQTL catalogue. Correlation analysis of eQTLs was performed using Vassarstats. Alternative splicing for the PXK gene was analysed on mRNA from PBMCs. RESULTS: Fine mapping revealed long-range LD (>200 kb) extended over the ABHD6, RPP14, PXK, and PDHB genes on 3p14.3. The highly correlated variants tagged an SLE-associated haplotype that was less frequent in the patients compared with the controls (OR=0.89, p=0.00684). A robust correlation between the association with SLE and enhanced expression of ABHD6 gene was revealed, while neither expression, nor splicing alterations associated with SLE susceptibility were detected for PXK. The SNP allele frequencies as well as eQTL pattern analysed in the CEU and CHB HapMap3 populations indicate that the SLE association and the effect on ABHD6 expression are specific to Europeans. CONCLUSIONS: These results confirm the genetic association of the locus 3p14.3 with SLE in Europeans and point to the ABHD6 and not PXK, as the major susceptibility gene in the region. We suggest a pathogenic mechanism mediated by the upregulation of ABHD6 in individuals carrying the SLE-risk variants.
[Mh] Termos MeSH primário: Peptídeos e Proteínas de Sinalização Intracelular/genética
Desequilíbrio de Ligação/genética
Lúpus Eritematoso Sistêmico/genética
Monoacilglicerol Lipases/genética
Proteínas do Tecido Nervoso/genética
Proteínas Serina-Treonina Quinases/genética
RNA Mensageiro/genética
[Mh] Termos MeSH secundário: Processamento Alternativo
Estudos de Casos e Controles
Mapeamento Cromossômico
Cromossomos Humanos 1-3
Grupo com Ancestrais do Continente Europeu/genética
Predisposição Genética para Doença
Haplótipos
Seres Humanos
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Intracellular Signaling Peptides and Proteins); 0 (Nerve Tissue Proteins); 0 (RNA, Messenger); EC 2.7.11.1 (PXK protein, human); EC 2.7.11.1 (Protein-Serine-Threonine Kinases); EC 3.1.1.23 (ABHD6 protein, human); EC 3.1.1.23 (Monoacylglycerol Lipases)
[Em] Mês de entrada:1505
[Cu] Atualização por classe:150206
[Lr] Data última revisão:
150206
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140219
[St] Status:MEDLINE
[do] DOI:10.1136/annrheumdis-2013-204909


  2 / 1868 MEDLINE  
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[PMID]:25017606
[Au] Autor:Belba A; Riversi V; Mari F; Cellesi E; Ponchietti R
[Ad] Endereço:Urological and Andrological Unit, Department of Medicine, Surgery and Neuroscience, Siena. roberto.ponchietti@unisi.it.
[Ti] Título:Triorchidism: genetic and imaging evaluation in an adult male.
[So] Source:Arch Ital Urol Androl;86(2):156-7, 2014 Jun 30.
[Is] ISSN:1124-3562
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:We report the results of imaging and cytogenetic studies in a case of triorchidism in a 54 years old male without any associated anomaly. A scrotal ultrasonography revealed the presence of two testes within the left hemiscrotum with complete septation and echotexture and vascular flow pattern similar to the vascular flow of the normal right testis. There was no focal abnormal echogenicity suggesting malignancy. Scrotal MRI confirmed two soft-tissue structures in the left hemiscrotum with normal signal intensity at T1w and T2w images. Both testes had a tunica albuginea with low-signal intensity. Cytogenetic analysis resulted in normal male karyotype 46XY. Array-CGH analysis detected the presence of two interstitial rearrangements: a ~120 Kb deletion of chromosome 1 and a ~140 Kb deletion of chromosome 16. Currently there are little details on the functions of both genes.
[Mh] Termos MeSH primário: Testículo/anormalidades
Testículo/diagnóstico por imagem
[Mh] Termos MeSH secundário: Aberrações Cromossômicas
Cromossomos Humanos 1-3
Cromossomos Humanos 16-18
Anormalidades Congênitas/diagnóstico por imagem
Anormalidades Congênitas/genética
Seres Humanos
Masculino
Meia-Idade
Ultrassonografia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1411
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140715
[St] Status:MEDLINE
[do] DOI:10.4081/aiua.2014.2.156


  3 / 1868 MEDLINE  
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[PMID]:24267971
[Au] Autor:Juratli TA; Engellandt K; Lautenschlaeger T; Geiger KD; von Kummer R; Cerhova J; Chakravarti A; Krex D; Schackert G
[Ad] Endereço:Department of Neurosurgery, University Hospital Carl Gustav Carus, Technical University of Dresden, Dresden, Germany. Electronic address: Tareq.Juratli@uniklinikum-dresden.de.
[Ti] Título:Is there pseudoprogression in secondary glioblastomas?
[So] Source:Int J Radiat Oncol Biol Phys;87(5):1094-9, 2013 Dec 01.
[Is] ISSN:1879-355X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Pseudoprogression (PP) during adjuvant treatment of glioblastoma (GBM) is frequent and is a clinically and radiologically challenging problem. While there are several reports of the frequency of PP in GBM cohorts including mainly patients with primary GBM, there are few data on the incidence of PP in patients with secondary glioblastomas (sGBM). Therefore, the goal of this study was to evaluate the frequency of PP in sGBM. METHODS AND MATERIALS: We retrospectively evaluated the incidence of PP in adult patients with sGBM treated with chemoradiation therapy (CRTx) using temozolomide (TMZ) and sought to assess if there was an association between PP and MGMT promoter methylation status, IDH mutations status, or 1p/19q codeletion. The definition of PP according to the Response Assessment in Neuro-Oncology Working Group was used. RESULTS: None of the evaluable 15 sGBM patients in our series demonstrated a PP. Of the 9 sGBM patients who received concomitant CRTx with TMZ, 6 patients had the methylated MGMT promoter, and 6 patients had IDH mutations. There also was no PP identified in sGBM patients who received sequential CRTx, irrespective of MGMT or IDH status. The median time of follow-up was 3.4 years after diagnosis of an sGBM, and the median overall survival was 18.2 months (range, 14.3-45.2 months). Three of 15 patients had previously received radiation therapy for their World Health Organization low-grade 2 glioma, while none of them had received chemotherapy at that stage. CONCLUSIONS: Based on this small series of sGBM patients treated with CRTx (concomitantly or sequentially) the frequency of PP appears to be very low in sGBM, even in those patients with methylated MGMT promoter or IDH mutations. Our results highlight the differences between primary glioblastomas and sGBM in particular as they relate to PP.
[Mh] Termos MeSH primário: Neoplasias Encefálicas/patologia
Progressão da Doença
Deleção de Genes
Glioblastoma/patologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Antineoplásicos Alquilantes/uso terapêutico
Neoplasias Encefálicas/genética
Neoplasias Encefálicas/metabolismo
Neoplasias Encefálicas/mortalidade
Neoplasias Encefálicas/terapia
Quimiorradioterapia Adjuvante/métodos
Cromossomos Humanos 1-3/genética
Metilação de DNA
Metilases de Modificação do DNA/genética
Metilases de Modificação do DNA/metabolismo
Enzimas Reparadoras do DNA/genética
Enzimas Reparadoras do DNA/metabolismo
Dacarbazina/análogos & derivados
Dacarbazina/uso terapêutico
Intervalo Livre de Doença
Feminino
Glioblastoma/genética
Glioblastoma/metabolismo
Glioblastoma/mortalidade
Glioblastoma/terapia
Seres Humanos
Isocitrato Desidrogenase/genética
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Mutação/genética
Estudos Retrospectivos
Proteínas Supressoras de Tumor/genética
Proteínas Supressoras de Tumor/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Antineoplastic Agents, Alkylating); 0 (Tumor Suppressor Proteins); 7GR28W0FJI (Dacarbazine); EC 1.1.1.41 (Isocitrate Dehydrogenase); EC 2.1.1.- (DNA Modification Methylases); EC 2.1.1.63 (MGMT protein, human); EC 6.5.1.- (DNA Repair Enzymes); YF1K15M17Y (temozolomide)
[Em] Mês de entrada:1401
[Cu] Atualização por classe:161128
[Lr] Data última revisão:
161128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:131126
[St] Status:MEDLINE


  4 / 1868 MEDLINE  
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[PMID]:22287734
[Au] Autor:Lin CY; Ho CM; Bau DT; Yang SF; Liu SH; Lin PH; Lin TH; Tien N; Shih MC; Lu JJ
[Ad] Endereço:Department of Laboratory Medicine, Linkou Chang-Gung Memorial Hospital, 5 Fu-Hsin Street, Kweishan, Taoyuan 333, Taiwan, ROC.
[Ti] Título:Evaluation of breast cancer susceptibility loci on 2q35, 3p24, 17q23 and FGFR2 genes in Taiwanese women with breast cancer.
[So] Source:Anticancer Res;32(2):475-82, 2012 Feb.
[Is] ISSN:1791-7530
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:AIM: Breast cancer is the most common cancer in women. In recent years, mounting evidence has identified the possibility that 2q35, 3p24, 17q23 and fibroblast growth factor receptor 2 (FGFR2) may be genetic susceptibility loci for breast cancer. This study aimed to evaluate the association of four polymorphic genotypes in these loci with breast cancer in Taiwanese women. PATIENTS AND METHODS: Eighty-eight patients with breast cancer and 70 controls without breast cancer were selected. Polymorphic variants of 2q35-rs13387042, 3p24-rs4973768, 17q23-rs650490 and FGFR2-rs2981578 were analyzed to test for their association with breast cancer susceptibility. The 2q35, 17q23 and FGFR2 polymorphisms were detected using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and the 3p24 polymorphism was detected using an amplification-created restriction site method. RESULTS: The distribution of genotypes of 2q35 were significantly different between the breast cancer group and the control group (p=0.035), while the distributions for 3p24, 17q23, and FGFR2 did not produce statistically significant differences (p>0.05). In addition, allele A of 2q35 conferred a higher risk for breast cancer risk than allele G (odds ratio, OR=2.95, 95% confidence interval, CI=1.29-6.71, p=0.008). Furthermore, the genotypic distribution of 2q35 was not significantly different among patients with different tumor stages, or from different specimen type. CONCLUSION: The 2q35 allele A may be a potential biomarker for breast cancer risk, but further confirmation is required to determine its role in breast carcinogenesis. Blood samples can be used for determining the genotypes for 2q35-rs13387042 in patients for risk of breast cancer.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Cromossomos Humanos 1-3
Cromossomos Humanos Par 17
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Alelos
Neoplasias da Mama/enzimologia
Neoplasias da Mama/patologia
Estudos de Casos e Controles
Cromossomos Humanos Par 2
Cromossomos Humanos Par 3
Feminino
Predisposição Genética para Doença
Seres Humanos
Meia-Idade
Estadiamento de Neoplasias
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Polimorfismo de Nucleotídeo Único
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/metabolismo
Taiwan
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Mês de entrada:1203
[Cu] Atualização por classe:120605
[Lr] Data última revisão:
120605
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120131
[St] Status:MEDLINE


  5 / 1868 MEDLINE  
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[PMID]:22273477
[Au] Autor:Bierkens M; Wilting SM; van Wieringen WN; van de Wiel MA; Ylstra B; Meijer CJ; Snijders PJ; Steenbergen RD
[Ad] Endereço:Department of Pathology, Unit of Molecular Pathology, VU University Medical Center, PO box 7057, 1007 MB Amsterdam, The Netherlands.
[Ti] Título:HPV type-related chromosomal profiles in high-grade cervical intraepithelial neoplasia.
[So] Source:BMC Cancer;12:36, 2012 Jan 24.
[Is] ISSN:1471-2407
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The development of cervical cancer and its high-grade precursor lesions (Cervical Intraepithelial Neoplasia grade 2/3 [CIN2/3]) result from a persistent infection with high-risk human papillomavirus (hrHPV) types and the accumulation of (epi)genetic host cell aberrations. Epidemiological studies have demonstrated variable CIN2/3 and cancer risks between different hrHPV types. Recent genomic profiling studies revealed substantial heterogeneity in the chromosomal aberrations detected in morphologically indistinguishable CIN2/3 suggestive of varying cancer risk. The current study aimed to investigate whether CIN2/3 with different hrHPV types vary with respect to their chromosomal profiles, both in terms of the number of aberrations and chromosomal loci affected. METHODS: Chromosomal profiles were determined of 43 p16INK4a-immunopositive CIN2/3 of women with long-term hrHPV infection (≥ 5 years). Sixteen lesions harboured HPV16, 3 HPV18, 14 HPV31, 1 HPV33, 4 HPV45, 1 HPV51, 2 HPV52 and 2 HPV58. RESULTS: Unsupervised hierarchical clustering analysis of the chromosomal profiles revealed two major clusters, characterised by either few or multiple chromosomal aberrations, respectively. A majority of 87.5% of lesions with HPV16 were in the cluster with relatively few aberrations, whereas no such unbalanced distribution was seen for lesions harbouring other hrHPV types. Analysis of the two most prevalent types (HPV16 and HPV31) in this data set revealed a three-fold increase in the number of losses in lesions with HPV31 compared to HPV16-positive lesions. In particular, losses at chromosomes 2q, 4p, 4q, 6p, 6q, 8q & 17p and gain at 1p & 1q were significantly more frequent in HPV31-positive lesions (FDR < 0.2). CONCLUSIONS: Chromosomal aberrations in CIN2/3 are at least in part related to the hrHPV type present. The relatively low number of chromosomal aberrations observed in HPV16-positive CIN2/3 suggests that the development of these lesions is less dependent on genetic insult than those caused by other types like HPV31.
[Mh] Termos MeSH primário: Neoplasia Intraepitelial Cervical/genética
Aberrações Cromossômicas
Infecções por Papillomavirus/genética
Neoplasias do Colo do Útero/genética
[Mh] Termos MeSH secundário: Adulto
Alphapapillomavirus/classificação
Neoplasia Intraepitelial Cervical/virologia
Cromossomos Humanos 1-3/genética
Cromossomos Humanos 4-5/genética
Cromossomos Humanos 6-12 e X/genética
Cromossomos Humanos Par 17/genética
Análise por Conglomerados
Feminino
Seres Humanos
Meia-Idade
Infecções por Papillomavirus/virologia
Especificidade da Espécie
Neoplasias do Colo do Útero/virologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1206
[Cu] Atualização por classe:150128
[Lr] Data última revisão:
150128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120126
[St] Status:MEDLINE
[do] DOI:10.1186/1471-2407-12-36


  6 / 1868 MEDLINE  
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[PMID]:21692795
[Au] Autor:Okumura A; Yamamoto T; Shimojima K; Honda Y; Abe S; Ikeno M; Shimizu T
[Ad] Endereço:Department of Pediatrics, Juntendo University Faculty of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, Japan. okumura@juntendo.ac.jp
[Ti] Título:Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
[So] Source:Epilepsia;52(7):e66-9, 2011 Jul.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:There are only two reports on epileptic patients associated with microduplication of 2q. We found a de novo duplication of chromosome 2q24.2q24.3 in another infant with neonatal epilepsy. The patient had refractory focal seizures since the third day of life. Her seizures were refractory against phenobarbital and levetiracetam, but were controlled by valproate. Array comparative genomic hybridization revealed a 5.3-Mb duplication of 2q24.2q24.3, where at least 22 genes including a cluster of voltage-gated sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A) and one noncoding RNA are located.
[Mh] Termos MeSH primário: Duplicação Cromossômica/genética
Cromossomos Humanos 1-3/genética
Epilepsia/genética
Doenças do Recém-Nascido/genética
[Mh] Termos MeSH secundário: Anticonvulsivantes/uso terapêutico
Duplicação Cromossômica/fisiologia
Cromossomos Humanos 1-3/fisiologia
Epilepsia/congênito
Epilepsia/tratamento farmacológico
Feminino
Seres Humanos
Recém-Nascido
Doenças do Recém-Nascido/tratamento farmacológico
Cariotipagem
Convulsões/congênito
Convulsões/genética
Canais de Sódio/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Sodium Channels)
[Em] Mês de entrada:1109
[Cu] Atualização por classe:110706
[Lr] Data última revisão:
110706
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110623
[St] Status:MEDLINE
[do] DOI:10.1111/j.1528-1167.2011.03139.x


  7 / 1868 MEDLINE  
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[PMID]:21681258
[Au] Autor:Wang Y; Li X; Zhu WL
[Ad] Endereço:Shijingshan District Center for Disease Prevention and Control, Beijing 100043, China.
[Ti] Título:[Chromosomal location of nonsyndromic cleft lip with or without palates for two multiplex families].
[So] Source:Beijing Da Xue Xue Bao Yi Xue Ban;43(3):333-7, 2011 Jun 18.
[Is] ISSN:1671-167X
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To find chromosome region closely linked to nonsyndromic cleft lip with or without palates (NSCL±P) by genome-wide scan and linkage analysis for two multiplex families. METHODS: Whole-genome scan and fine genome scan were used to analyse multiplex families members, and parametric, nonparametric and interaction statistical analysis software to determine which chromosomal section was linked to the genetic disease. RESULTS: Both parametric and nonparametric linkage scores increased by a big margin over the initial linkage scores on 1q32.2-41. Although parametric results were not significant, nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p25.1-24.2. The multiplicative model gave the strongest evidence for interaction in 1q32.2-41 and 2p25.1-24.2. CONCLUSION: Parametric and nonparametric linkage analyses for 2 NSCL±P multiplex families show that there may be candidate regions on chromosome 1q32.2-41 and 2p25.1-24.2.The two regions of 1q32.2-41 and 2p25.1-24.2 may contribute to NSCL±P risks with interaction.
[Mh] Termos MeSH primário: Fenda Labial/genética
Fissura Palatina/genética
Estudo de Associação Genômica Ampla
Linhagem
[Mh] Termos MeSH secundário: China
Cromossomos Humanos 1-3/genética
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1205
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110618
[St] Status:MEDLINE


  8 / 1868 MEDLINE  
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[PMID]:21426326
[Au] Autor:Coppola A; Santulli L; Del Gaudio L; Minetti C; Striano S; Zara F; Striano P
[Ad] Endereço:Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy.
[Ti] Título:Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.
[So] Source:Epilepsia;52(7):1245-50, 2011 Jul.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To investigate for the first time the natural history and long-term evolution of "familial cortical tremor, myoclonus, and epilepsy." METHODS: We evaluated the clinical, electrophysiologic, and treatment data of 14 patients from three families linked to 2p11.1-q12.2. A simplified scale was used to score myoclonus severity. Electroencephalography (EEG) studies were reviewed for the evaluation of background activity, paroxysmal abnormalities, and photoparoxysmal response. Data were organized for age groups. Correlation and logistic regression analysis were performed. KEY FINDINGS: Patients' mean age was 47.8 ± 22.0 years (range 20-86 years). Mean age at disease onset was 20.2 ± 7.8 years (range 11-40 years); mean follow-up duration was 14.0 ± 5.8 years (range 7-28 years). Evaluation at different age groups revealed a gradual, progressive worsening of the myoclonus in 10 patients (71.4%). Two subjects aged >80 years showed myoclonus interfering with autonomous walking. Myoclonus severity was correlated with disease duration (p<0.001) and patients' age (p=0.001). Six patients (42.8%) experienced seizures, usually between the second and sixth decades of life. Evaluation of EEG long-term evolution revealed progressive slowing of background activity in parallel with the gradual worsening of myoclonus. In contrast, paroxysmal activity and photosensitivity were particularly evident during the intermediate phases of the disease. In addition, psychiatric and neuropsychological dysfunction occurred in more than one third of the patients. SIGNIFICANCE: We provide data for a slight age-dependent progression and the presence of neuropsychiatric and neuropsychological dysfunction in this unique syndrome, for which the definition of familial or autosomal dominant cortical tremor, myoclonus, and epilepsy (FCTME/ADCME) seems to be, therefore, more appropriate.
[Mh] Termos MeSH primário: Epilepsias Mioclônicas/genética
Epilepsia/genética
Tremor/genética
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Idoso
Idoso de 80 Anos ou mais
Encéfalo/fisiopatologia
Transtornos Cromossômicos/genética
Transtornos Cromossômicos/fisiopatologia
Cromossomos Humanos 1-3/genética
Progressão da Doença
Eletroencefalografia
Epilepsias Mioclônicas/fisiopatologia
Epilepsia/fisiopatologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Testes Neuropsicológicos
Síndrome
Tremor/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1109
[Cu] Atualização por classe:110706
[Lr] Data última revisão:
110706
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110324
[St] Status:MEDLINE
[do] DOI:10.1111/j.1528-1167.2011.03017.x


  9 / 1868 MEDLINE  
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[PMID]:20851799
[Au] Autor:Verdeguer A
[Ad] Endereço:Pediatric Oncology and Pediatric Hematopoietic Cell, Transplantation Unit, Clinical and Translational Investigation Group La Fe, Hospital Universitario Infantil La Fe, Valencia, Spain. verdeguer_amp@gva.es
[Ti] Título:Genetic alterations in children and adolescents with acute myeloid leukaemia.
[So] Source:Clin Transl Oncol;12(9):590-6, 2010 Sep.
[Is] ISSN:1699-3055
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Acute Myeloid Leukemia is a clinically and genetically heterogeneous disease, in which cytogenetic aberrations are the most important factors to determine biological behavior and prognosis. More than 20 different chromosomal abnormalities have been identified in a high percentage of children (70-85%) with the novo AML. We reviewed the most frequently found and the impact of these aberrations on prognosis. Differences according to the age of patients and mainly in relation to adult population have been enhanced, although the low incidence of AML in children and the high number of abnormalities make difficult to accurately define the prognosis significance of these aberrations.
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Leucemia Mieloide Aguda/genética
Leucemia Mieloide Aguda/patologia
[Mh] Termos MeSH secundário: Adolescente
Fatores Etários
Criança
Pré-Escolar
Cromossomos Humanos 1-3
Cromossomos Humanos 13-15
Cromossomos Humanos 16-18
Cromossomos Humanos 21-22 e Y
Cromossomos Humanos 6-12 e X
Análise Citogenética
Expressão Gênica
Seres Humanos
Lactente
Cariotipagem
Leucemia Mieloide Aguda/tratamento farmacológico
Leucemia Mieloide Aguda/metabolismo
Mutação
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1103
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100921
[St] Status:MEDLINE
[do] DOI:10.1007/s12094-010-0563-z


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[PMID]:20663459
[Au] Autor:Dantonio P; Meredith-Molloy N; Hagopian WA; She JX; Akolkar B; Cordovado SK; Hendrix M; Henderson LO; Hannon WH; Vogt RF
[Ad] Endereço:Division of Laboratory Sciences, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.
[Ti] Título:Proficiency testing of human leukocyte antigen-DR and human leukocyte antigen-DQ genetic risk assessment for type 1 diabetes using dried blood spots.
[So] Source:J Diabetes Sci Technol;4(4):929-41, 2010 Jul 01.
[Is] ISSN:1932-2968
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The plurality of genetic risk for developing type 1 diabetes mellitus (T1DM) lies within the genes that code for the human leukocyte antigens (HLAs). Many T1DM studies use HLA genetic risk assessment to identify higher risk individuals, and they often conduct these tests on dried blood spots (DBSs) like those used for newborn bloodspot screening. One such study is The Environmental Determinants of Diabetes in the Young (TEDDY), a long-term prospective study of environmental risk factors. To provide quality assurance for T1DM studies that employ HLA genetic risk assessment, the Centers for Disease Control and Prevention (CDC) conducts both a voluntary quarterly proficiency testing (VQPT) program available to any laboratory and a mandatory annual proficiency testing (PT) challenge for TEDDY laboratories. METHODS: Whole blood and DBS samples with a wide range of validated HLA-DR and HLA-DQ genotypes were sent to the participating laboratories. Results were evaluated on the basis of both the reported haplotypes and the HLA genetic risk assessment. RESULTS: Of the reported results from 24 panels sent out over six years in the VQPT, 94.7% (857/905) were correctly identified with respect to the relevant HLA-DR or HLA-DQ alleles, and 96.4% (241/250) were correctly categorized for risk assessment. Significant improvement was seen over the duration of this program, usually reaching 100% correct categorization during the last three years. Of 1154 reported results in four TEDDY PT challenges, 1153 (99.9%) were correctly identified for TEDDY eligibility. CONCLUSIONS: The different analytical methods used by T1DM research centers all provided accurate (>99%) results for genetic risk assessment. The two CDC PT programs documented the validity of the various approaches to screening and contributed to overall quality assurance.
[Mh] Termos MeSH primário: Diabetes Mellitus Tipo 1/sangue
Diabetes Mellitus Tipo 1/genética
Antígenos HLA-DQ/sangue
Antígenos HLA-DR/sangue
Leucócitos/química
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos 1-3/genética
Predisposição Genética para Doença
Haplótipos
Seres Humanos
Valor Preditivo dos Testes
Padrões de Referência
Medição de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (HLA-DQ Antigens); 0 (HLA-DR Antigens)
[Em] Mês de entrada:1011
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100729
[St] Status:MEDLINE



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