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[PMID]:28450830
[Au] Autor:Elliott KL; Kersigo J; Pan N; Jahan I; Fritzsch B
[Ad] Endereço:Department of Biology, University of IowaIowa City, IA, USA.
[Ti] Título:Spiral Ganglion Neuron Projection Development to the Hindbrain in Mice Lacking Peripheral and/or Central Target Differentiation.
[So] Source:Front Neural Circuits;11:25, 2017.
[Is] ISSN:1662-5110
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:We investigate the importance of the degree of peripheral or central target differentiation for mouse auditory afferent navigation to the organ of Corti and auditory nuclei in three different mouse models: first, a mouse in which the differentiation of hair cells, but not central auditory nuclei neurons is compromised ( ); second, a mouse in which hair cell defects are combined with a delayed defect in central auditory nuclei neurons ( ), and third, a mouse in which both hair cells and central auditory nuclei are absent ( ). Our results show that neither differentiated peripheral nor the central target cells of inner ear afferents are needed (hair cells, cochlear nucleus neurons) for segregation of vestibular and cochlear afferents within the hindbrain and some degree of base to apex segregation of cochlear afferents. These data suggest that inner ear spiral ganglion neuron processes may predominantly rely on temporally and spatially distinct molecular cues in the region of the targets rather than interaction with differentiated target cells for a crude topological organization. These developmental data imply that auditory neuron navigation properties may have evolved before auditory nuclei.
[Mh] Termos MeSH primário: Fatores de Transcrição Hélice-Alça-Hélice Básicos/deficiência
Diferenciação Celular/genética
Células Ciliadas Auditivas/fisiologia
Malformações do Sistema Nervoso/patologia
Fator de Transcrição PAX2/deficiência
Rombencéfalo/patologia
Gânglio Espiral da Cóclea
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Vias Auditivas/embriologia
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética
Núcleo Coclear/citologia
Núcleo Coclear/embriologia
Núcleo Coclear/crescimento & desenvolvimento
Embrião de Mamíferos
Camundongos
Camundongos Knockout
Malformações do Sistema Nervoso/genética
Fator de Transcrição PAX2/genética
Gânglio Espiral da Cóclea/embriologia
Gânglio Espiral da Cóclea/crescimento & desenvolvimento
Gânglio Espiral da Cóclea/patologia
beta-Galactosidase/genética
beta-Galactosidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Atoh1 protein, mouse); 0 (Basic Helix-Loop-Helix Transcription Factors); 0 (PAX2 Transcription Factor); 0 (Pax2 protein, mouse); EC 3.2.1.23 (beta-Galactosidase)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.3389/fncir.2017.00025


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[PMID]:28967231
[Au] Autor:Jystad KP; Strand KM; Bjellmo S; Lydersen S; Klungsöyr K; Stoknes M; Skranes J; Andersen GL; Vik T
[Ad] Endereço:Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
[Ti] Título:Congenital anomalies and the severity of impairments for cerebral palsy.
[So] Source:Dev Med Child Neurol;59(11):1174-1180, 2017 Nov.
[Is] ISSN:1469-8749
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: To study the prevalence of congenital anomalies among children with cerebral palsy (CP) born at term or late preterm, and if CP subtypes and clinical manifestations differ between children with and without congenital anomalies. METHOD: This was a cross-sectional study using data from the Cerebral Palsy Register of Norway and the Medical Birth Registry of Norway. All children with congenital CP born at and later than 34 weeks' gestation in Norway from 1999 to 2009 were included. Anomalies were classified according to the European Surveillance of Congenital Anomalies classification guidelines. Groups were compared using Fisher's exact test, Kruskal-Wallis test, and the Mann-Whitney U test. RESULTS: Among 685 children with CP, 169 (25%) had a congenital anomaly; 125 within the central nervous system. Spastic bilateral CP was more prevalent in children with anomalies (42%) than in children without (34%; p=0.011). Children with anomalies less frequently had low Apgar scores (p<0.001), but more often had severe limitations in gross- and fine-motor function, speech impairments, epilepsy, severe vision, and hearing impairments than children without anomalies (p<0.03). INTERPRETATION: Although children with CP and anomalies had low Apgar scores less frequently, they had more severe limitations in motor function and more associated problems than children with CP without anomalies. WHAT THIS PAPER ADDS: One in four children with cerebral palsy (CP) born at term or late preterm has a congenital anomaly. The added value of neuroimaging to detect central nervous system anomalies in children with CP. Children with anomalies have more severe motor impairments. More severe clinical manifestations are not explained by perinatal complications as indicated by low Apgar scores.
[Mh] Termos MeSH primário: Paralisia Cerebral/complicações
Paralisia Cerebral/epidemiologia
Malformações do Sistema Nervoso/complicações
Malformações do Sistema Nervoso/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Criança
Estudos de Coortes
Planejamento em Saúde Comunitária
Estudos Transversais
Feminino
Lateralidade Funcional
Idade Gestacional
Seres Humanos
Masculino
Noruega
Razão de Chances
Fatores de Risco
Índice de Gravidade de Doença
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171003
[St] Status:MEDLINE
[do] DOI:10.1111/dmcn.13552


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[PMID]:28838147
[Au] Autor:Kam YW; Leite JA; Lum FM; Tan JJL; Lee B; Judice CC; Teixeira DAT; Andreata-Santos R; Vinolo MA; Angerami R; Resende MR; Freitas ARR; Amaral E; Junior RP; Costa ML; Guida JP; Arns CW; Ferreira LCS; Rénia L; Proença-Modena JL; Ng LFP; Costa FTM; Zika-Unicamp Network
[Ad] Endereço:Singapore Immunology Network, Agency for Science, Technology and Research (A*STAR).
[Ti] Título:Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus-Infected Patients in Brazil.
[So] Source:J Infect Dis;216(2):172-181, 2017 Jul 15.
[Is] ISSN:1537-6613
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Background: Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. Methods: We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Results: Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth-associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. Conclusions: This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients.
[Mh] Termos MeSH primário: Citocinas/sangue
Malformações do Sistema Nervoso/epidemiologia
Complicações Infecciosas na Gravidez/epidemiologia
Infecção pelo Zika virus/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Biomarcadores/sangue
Brasil/epidemiologia
Criança
Feminino
Retardo do Crescimento Fetal/virologia
Seres Humanos
Recém-Nascido
Masculino
Meia-Idade
Malformações do Sistema Nervoso/virologia
Gravidez
Complicações Infecciosas na Gravidez/virologia
Resultado da Gravidez
Carga Viral
Adulto Jovem
Zika virus
Infecção pelo Zika virus/complicações
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Cytokines)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170826
[St] Status:MEDLINE
[do] DOI:10.1093/infdis/jix261


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[PMID]:28835460
[Au] Autor:Achleitner M; Kleefisch M; Hennig A; Peschke K; Polikarpova A; Oertel R; Gabriel B; Schulze L; Lindeman D; Gerbaulet A; Fiebig U; Lee-Kirsch MA; Roers A; Behrendt R
[Ad] Endereço:Institute for Immunology, Medical Faculty Carl Gustav Carus, Technical University of Dresden, 01307 Dresden, Germany.
[Ti] Título:Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.
[So] Source:J Immunol;199(7):2261-2269, 2017 Oct 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Biallelic mutations of three prime repair exonuclease 1 (TREX1) cause the lupus-like disease Aicardi-Goutières syndrome in which accumulation of a yet unknown endogenous DNA substrate of TREX1 triggers a cyclic GMP-AMP synthase-dependent type I IFN response and systemic autoimmunity. Products of reverse transcription originating from endogenous retroelements have been suggested to be a major substrate for TREX1, and reverse transcriptase inhibitors (RTIs) were proposed as a therapeutic option in autoimmunity ensuing from defects of TREX1. In this study, we treated mice with RTIs. The serum RTI levels reached were sufficient to block retrotransposition of endogenous retroelements. However, the treatment did not reduce the spontaneous type I IFN response and did not ameliorate lethal inflammation. Furthermore, long interspersed nuclear elements 1 retrotransposition was not enhanced in the absence of Trex1. Our data do not support the concept of retroelement-derived cDNA as key triggers of systemic autoimmunity in Trex1-deficient humans and mice and motivate the continuing search for the pathogenic IFN-inducing Trex1 substrate.
[Mh] Termos MeSH primário: Autoimunidade
Exodesoxirribonucleases/metabolismo
Fosfoproteínas/metabolismo
Inibidores da Transcriptase Reversa/sangue
[Mh] Termos MeSH secundário: Animais
Doenças Autoimunes do Sistema Nervoso/imunologia
DNA Complementar
Exodesoxirribonucleases/deficiência
Exodesoxirribonucleases/genética
Células HeLa
Seres Humanos
Inflamação
Interferon Tipo I/biossíntese
Interferon Tipo I/imunologia
Camundongos
Mutação
Malformações do Sistema Nervoso/imunologia
Fosfoproteínas/deficiência
Fosfoproteínas/genética
Retroelementos
Inibidores da Transcriptase Reversa/efeitos adversos
Inibidores da Transcriptase Reversa/uso terapêutico
Transcrição Reversa
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Complementary); 0 (Interferon Type I); 0 (Phosphoproteins); 0 (Retroelements); 0 (Reverse Transcriptase Inhibitors); EC 3.1.- (Exodeoxyribonucleases); EC 3.1.16.- (three prime repair exonuclease 1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170825
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1700714


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[PMID]:28823707
[Au] Autor:Ivanova EL; Mau-Them FT; Riazuddin S; Kahrizi K; Laugel V; Schaefer E; de Saint Martin A; Runge K; Iqbal Z; Spitz MA; Laura M; Drouot N; Gérard B; Deleuze JF; de Brouwer APM; Razzaq A; Dollfus H; Assir MZ; Nitchké P; Hinckelmann MV; Ropers H; Riazuddin S; Najmabadi H; van Bokhoven H; Chelly J
[Ad] Endereço:Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, Fr
[Ti] Título:Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
[So] Source:Am J Hum Genet;101(3):428-440, 2017 Sep 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized by hypoplasia of pons and cerebellum. Mutations in a small number of genes have been reported to cause PCH, and the vast majority of PCH cases are explained by mutations in TSEN54, which encodes a subunit of the tRNA splicing endonuclease complex. Here we report three families with homozygous truncating mutations in TBC1D23 who display moderate to severe intellectual disability and microcephaly. MRI data from available affected subjects revealed PCH, small normally proportioned cerebellum, and corpus callosum anomalies. Furthermore, through in utero electroporation, we show that downregulation of TBC1D23 affects cortical neuron positioning. TBC1D23 is a member of the Tre2-Bub2-Cdc16 (TBC) domain-containing RAB-specific GTPase-activating proteins (TBC/RABGAPs). Members of this protein family negatively regulate RAB proteins and modulate the signaling between RABs and other small GTPases, some of which have a crucial role in the trafficking of intracellular vesicles and are involved in neurological disorders. Here, we demonstrate that dense core vesicles and lysosomal trafficking dynamics are affected in fibroblasts harboring TBC1D23 mutation. We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia.
[Mh] Termos MeSH primário: Doenças Cerebelares/genética
Cerebelo/anormalidades
Proteínas Ativadoras de GTPase/genética
Homozigoto
Microcefalia/genética
Mutação
Malformações do Sistema Nervoso/genética
Neurônios/patologia
[Mh] Termos MeSH secundário: Adolescente
Animais
Células Cultivadas
Doenças Cerebelares/patologia
Cerebelo/patologia
Criança
Pré-Escolar
Deficiências do Desenvolvimento/genética
Deficiências do Desenvolvimento/patologia
Embrião de Mamíferos/metabolismo
Embrião de Mamíferos/patologia
Feminino
Seres Humanos
Deficiência Intelectual/genética
Deficiência Intelectual/patologia
Masculino
Camundongos
Microcefalia/patologia
Malformações do Sistema Nervoso/patologia
Neuroblastoma/genética
Neuroblastoma/patologia
Crescimento Neuronal
Neurônios/metabolismo
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GTPase-Activating Proteins); 0 (Tbc1d23 protein, mouse)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170822
[St] Status:MEDLINE


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[PMID]:28783747
[Au] Autor:Hayashi S; Uehara DT; Tanimoto K; Mizuno S; Chinen Y; Fukumura S; Takanashi JI; Osaka H; Okamoto N; Inazawa J
[Ad] Endereço:Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
[Ti] Título:Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
[So] Source:PLoS One;12(8):e0181791, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), especially in females. Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES). In total, we identified causative or candidate genomic aberrations in 37 of the 41 cases (90.2%). CASK aberrations including a rare mosaic mutation in a male patient, were found in 32 cases, and a mutation in ITPR1, another known gene in which mutations are causative for MICPCH, was found in one case. We also found aberrations involving genes other than CASK, such as HDAC2, MARCKS, and possibly HS3ST5, which may be associated with MICPCH. Moreover, the targeted resequencing screening detected heterozygous variants in RELN in two cases, of uncertain pathogenicity, and WES analysis suggested that concurrent mutations of both DYNC1H1 and DCTN1 in one case could lead to MICPCH. Our results not only identified the etiology of MICPCH in nearly all the investigated patients but also suggest that MICPCH is a genetically heterogeneous condition, in which CASK inactivating mutations appear to account for the majority of cases.
[Mh] Termos MeSH primário: Cerebelo/anormalidades
Deficiência Intelectual/etiologia
Deficiência Intelectual/genética
Microcefalia/etiologia
Microcefalia/genética
Mutação/genética
Malformações do Sistema Nervoso/etiologia
Malformações do Sistema Nervoso/genética
[Mh] Termos MeSH secundário: Adolescente
Animais
Criança
Pré-Escolar
Dineínas do Citoplasma/genética
Deficiências do Desenvolvimento/etiologia
Deficiências do Desenvolvimento/genética
Complexo Dinactina/genética
Feminino
Predisposição Genética para Doença/genética
Guanilato Quinases/genética
Histona Desacetilase 2/genética
Seres Humanos
Lactente
Receptores de Inositol 1,4,5-Trifosfato/genética
Peptídeos e Proteínas de Sinalização Intracelular/genética
Masculino
Proteínas de Membrana/genética
Substrato Quinase C Rico em Alanina Miristoilada
Mutação Puntual/genética
Suínos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DCTN1 protein, human); 0 (DYNC1H1 protein, human); 0 (Dynactin Complex); 0 (ITPR1 protein, human); 0 (Inositol 1,4,5-Trisphosphate Receptors); 0 (Intracellular Signaling Peptides and Proteins); 0 (MARCKS protein, human); 0 (Membrane Proteins); 125267-21-2 (Myristoylated Alanine-Rich C Kinase Substrate); EC 2.7.11.1 (CASK kinases); EC 2.7.4.8 (Guanylate Kinases); EC 3.5.1.98 (HDAC2 protein, human); EC 3.5.1.98 (Histone Deacetylase 2); EC 3.6.4.2 (Cytoplasmic Dyneins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170808
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0181791


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[PMID]:28610628
[Au] Autor:Mattar S; Ojeda C; Arboleda J; Arrieta G; Bosch I; Botia I; Alvis-Guzman N; Perez-Yepes C; Gerhke L; Montero G
[Ad] Endereço:Universidad de Cordoba, Instituto de Investigaciones Biologicas del Tropico, Monteria, Colombia. mattarsalim@hotmail.com.
[Ti] Título:Case report: microcephaly associated with Zika virus infection, Colombia.
[So] Source:BMC Infect Dis;17(1):423, 2017 Jun 13.
[Is] ISSN:1471-2334
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Recently there has been a large outbreak of Zika virus infections in Colombia, South America. The epidemic began in September 2015 and continued to April 2017, for the total number of Zika cases reported of 107,870. For those confirmed Zika cases, there were nearly 20,000 (18.5%) suspected to be pregnant women, resulting in 157 confirmed cases of microcephaly in newborns reported by their health government agency. There is a clear under-estimation of the total number of cases and in addition no prior publications have been published to demonstrate the clinical aspects of the Zika infection in Colombia. We characterized one Zika presentation to be able to compare and contrast with other cases of Zika infection already reported in the literature. CASE PRESENTATION: In this case report, we demonstrate congenital microcephaly at week 19 of gestation in a 34-year-old mother who showed symptoms compatible with Zika virus infection from Sincelejo, State of Sucre, in the Colombian Caribbean. Zika virus RNA was detected in the placenta using real-time reverse transcriptase polymerase chain reaction (RT-PCR). At week 25, the fetus weigh estimate was 770 g, had a cephalic perimeter of 20.2 cm (5th percentile), ventriculomegaly on the right side and dilatation of the fourth ventricle. At week 32, the microcephaly was confirmed with a cephalic perimeter of 22 cm, dilatation of the posterior atrium to 13 mm, an abnormally small cerebellum (29 mm), and an augmented cisterna magna. At birth (39 weeks by cesarean section), the head circumference was 27.5 cm, and computerized axial tomography (Siemens Corp, 32-slides) confirmed microcephaly with calcifications. CONCLUSION: We report a first case of maternal Zika virus infection associated with fetal microcephaly in Colombia and confirmed similar presentation to those observed previous in Brazil, 2015-2016.
[Mh] Termos MeSH primário: Microcefalia/virologia
Complicações Infecciosas na Gravidez/virologia
Infecção pelo Zika virus/etiologia
[Mh] Termos MeSH secundário: Brasil
Cerebelo/anormalidades
Cerebelo/virologia
Colômbia
Deficiências do Desenvolvimento/virologia
Feminino
Seres Humanos
Hidrocefalia/virologia
Recém-Nascido
Malformações do Sistema Nervoso/virologia
Placenta/virologia
Gravidez
Zika virus/patogenicidade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170615
[St] Status:MEDLINE
[do] DOI:10.1186/s12879-017-2522-6


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[PMID]:28566405
[Au] Autor:Pereira EAC; Oxenham M; Lam KS
[Ad] Endereço:University of London, London SW17 0RE, UK.
[Ti] Título:Intraspinal anomalies in early-onset idiopathic scoliosis.
[So] Source:Bone Joint J;99-B(6):829-833, 2017 Jun.
[Is] ISSN:2049-4408
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. PATIENTS AND METHODS: This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. RESULTS: Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). CONCLUSION: This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: 2017;99-B:829-33.
[Mh] Termos MeSH primário: Malformações do Sistema Nervoso/diagnóstico por imagem
Escoliose/diagnóstico por imagem
[Mh] Termos MeSH secundário: Distribuição por Idade
Idade de Início
Malformação de Arnold-Chiari/complicações
Malformação de Arnold-Chiari/diagnóstico por imagem
Malformação de Arnold-Chiari/epidemiologia
Criança
Pré-Escolar
Feminino
Seres Humanos
Incidência
Lactente
Imagem por Ressonância Magnética
Masculino
Malformações do Sistema Nervoso/complicações
Malformações do Sistema Nervoso/epidemiologia
Estudos Retrospectivos
Escoliose/complicações
Escoliose/epidemiologia
Siringomielia/complicações
Siringomielia/diagnóstico por imagem
Siringomielia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170602
[St] Status:MEDLINE
[do] DOI:10.1302/0301-620X.99B6.BJJ-2016-1159.R1


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[PMID]:28549128
[Au] Autor:Desai R; Frazier AE; Durigon R; Patel H; Jones AW; Dalla Rosa I; Lake NJ; Compton AG; Mountford HS; Tucker EJ; Mitchell ALR; Jackson D; Sesay A; Di Re M; van den Heuvel LP; Burke D; Francis D; Lunke S; McGillivray G; Mandelstam S; Mochel F; Keren B; Jardel C; Turner AM; Ian Andrews P; Smeitink J; Spelbrink JN; Heales SJ; Kohda M; Ohtake A; Murayama K; Okazaki Y; Lombès A; Holt IJ; Thorburn DR; Spinazzola A
[Ad] Endereço:MRC Laboratory, Mill Hill, London NW71AA, UK.
[Ti] Título:ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
[So] Source:Brain;140(6):1595-1610, 2017 Jun 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data. We report deletions that generate chimeric ATAD3B/ATAD3A fusion genes in individuals from four unrelated families with fatal congenital pontocerebellar hypoplasia, whereas a case with genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displays later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia. Fibroblasts from affected individuals display mitochondrial DNA abnormalities, associated with multiple indicators of altered cholesterol metabolism. Moreover, drug-induced perturbations of cholesterol homeostasis cause mitochondrial DNA disorganization in control cells, while mitochondrial DNA aggregation in the genetic cholesterol trafficking disorder Niemann-Pick type C disease further corroborates the interdependence of mitochondrial DNA organization and cholesterol. These data demonstrate the integration of mitochondria in cellular cholesterol homeostasis, in which ATAD3 plays a critical role. The dual problem of perturbed cholesterol metabolism and mitochondrial dysfunction could be widespread in neurological and neurodegenerative diseases.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/genética
Cerebelo/anormalidades
DNA Mitocondrial/genética
Proteínas de Membrana/genética
Doenças Mitocondriais/genética
Proteínas Mitocondriais/genética
Malformações do Sistema Nervoso/genética
[Mh] Termos MeSH secundário: ATPases Associadas a Diversas Atividades Celulares
Adulto
Cerebelo/diagnóstico por imagem
Cerebelo/fisiopatologia
Consanguinidade
Deficiências do Desenvolvimento/diagnóstico por imagem
Deficiências do Desenvolvimento/genética
Deficiências do Desenvolvimento/fisiopatologia
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Doenças Mitocondriais/diagnóstico por imagem
Doenças Mitocondriais/fisiopatologia
Malformações do Sistema Nervoso/diagnóstico por imagem
Malformações do Sistema Nervoso/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ATAD3A protein, human); 0 (ATAD3B protein, human); 0 (ATAD3C protein, human); 0 (DNA, Mitochondrial); 0 (Membrane Proteins); 0 (Mitochondrial Proteins); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.4.- (ATPases Associated with Diverse Cellular Activities)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170527
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx094


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[PMID]:28502830
[Au] Autor:Herold N; Rudd SG; Sanjiv K; Kutzner J; Myrberg IH; Paulin CBJ; Olsen TK; Helleday T; Henter JI; Schaller T
[Ad] Endereço:Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, and Karolinska University Hospital, Stockholm, Sweden; Theme of Children's and Women's Health, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden. Electronic addres
[Ti] Título:With me or against me: Tumor suppressor and drug resistance activities of SAMHD1.
[So] Source:Exp Hematol;52:32-39, 2017 Aug.
[Is] ISSN:1873-2399
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Sterile alpha motif and histidine/aspartic acid domain-containing protein 1 (SAMHD1) is a (deoxy)guanosine triphosphate (dGTP/GTP)-activated deoxyribonucleoside triphosphate (dNTP) triphosphohydrolase involved in cellular dNTP homoeostasis. Mutations in SAMHD1 have been associated with the hyperinflammatory disease Aicardi-Goutières syndrome (AGS). SAMHD1 also limits cells' permissiveness to infection with diverse viruses, including human immunodeficiency virus (HIV-1), and controls endogenous retroviruses. Increasing evidence supports the role of SAMHD1 as a tumor suppressor. However, SAMHD1 also can act as a resistance factor to nucleoside-based chemotherapies by hydrolyzing their active triphosphate metabolites, thereby reducing response of various malignancies to these anticancer drugs. Hence, informed cancer therapies must take into account the ambiguous properties of SAMHD1 as both an inhibitor of uncontrolled proliferation and a resistance factor limiting the efficacy of anticancer treatments. Here, we provide evidence that SAMHD1 is a double-edged sword for patients with acute myelogenous leukemia (AML). Our time-dependent analyses of The Cancer Genome Atlas (TCGA) AML cohort indicate that high expression of SAMHD1, even though it critically limits the efficacy of high-dose ara-C therapy, might be associated with more favorable disease progression.
[Mh] Termos MeSH primário: Doenças Autoimunes do Sistema Nervoso/genética
Resistência a Medicamentos/genética
Proteínas Monoméricas de Ligação ao GTP/genética
Mutação
Malformações do Sistema Nervoso/genética
Proteínas Supressoras de Tumor/genética
[Mh] Termos MeSH secundário: Doença Aguda
Animais
Antimetabólitos Antineoplásicos/uso terapêutico
Doenças Autoimunes do Sistema Nervoso/metabolismo
Azacitidina/análogos & derivados
Azacitidina/uso terapêutico
Linhagem Celular Tumoral
Proliferação Celular/efeitos dos fármacos
Proliferação Celular/genética
Citarabina/uso terapêutico
Seres Humanos
Leucemia Mieloide/tratamento farmacológico
Leucemia Mieloide/genética
Leucemia Mieloide/metabolismo
Proteínas Monoméricas de Ligação ao GTP/metabolismo
Malformações do Sistema Nervoso/metabolismo
Proteína 1 com Domínio SAM e Domínio HD
Análise de Sobrevida
Resultado do Tratamento
Proteínas Supressoras de Tumor/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antimetabolites, Antineoplastic); 0 (Tumor Suppressor Proteins); 04079A1RDZ (Cytarabine); 776B62CQ27 (decitabine); EC 3.1.5.- (SAM Domain and HD Domain-Containing Protein 1); EC 3.1.5.- (SAMHD1 protein, human); EC 3.6.5.2 (Monomeric GTP-Binding Proteins); M801H13NRU (Azacitidine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170516
[St] Status:MEDLINE



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