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[PMID]:29342201
[Au] Autor:Neska-Matuszewska M; Bladowska J; Sasiadek M; Zimny A
[Ad] Endereço:Department of General and Interventional Radiology and Neuroradiology, Wroclaw Medical University, Wroclaw, Poland.
[Ti] Título:Differentiation of glioblastoma multiforme, metastases and primary central nervous system lymphomas using multiparametric perfusion and diffusion MR imaging of a tumor core and a peritumoral zone-Searching for a practical approach.
[So] Source:PLoS One;13(1):e0191341, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: In conventional MR examinations glioblastomas multiforme (GBMs), metastases and primary CNS lymphomas (PCNSLs) may show very similar appearance. The aim of the study was to evaluate usefulness of multiparametric T2*DSC perfusion and diffusion MR imaging in the preoperative differentiation of these tumors. MATERIAL AND METHODS: Seventy four solitary enhancing tumors (27 GBMs, 30 metastases, 17 PCNSLs) were enrolled in the study. Parameters of cerebral blood volume (rCBV), peak height (rPH), percentage of signal recovery (rPSR) and apparent diffusion coefficient (ADC) were assessed from the tumor core and the peritumoral non-enhancing T2-hyperintense zone. RESULTS: Within the tumor core there were no differences in perfusion and diffusion parameters between GBMs and metastases. Compared to GBMs and metastases, PCNSLs showed significantly lower rCBV and rPH, ADC as well as higher rPSR values. Max rCBV with a cut-off value of 2.18 demonstrated the highest accuracy of 0.98 in differentiating PCNSLs from other tumors. To distinguish GBMs from metastases analysis of the peritumoral zone was performed showing significantly higher rCBV, rPH and lower ADC values in GBMs with the highest accuracy of 0.94 found for max rCBV at a cut-off value of 0.98. CONCLUSIONS: Max rCBV seems to be the most important parameter to differentiate GBMs, metastases and PCNSLs. Analysis of max rCBV within the tumor core enables to distinguish hypoperfused PCNSLs from hyperperfused GBMs and metastases while evaluation of max rCBV within the peritumoral zone is helpful to distinguish GBMs showing peritumoral infiltration from metastases surrounded by pure edema.
[Mh] Termos MeSH primário: Glioblastoma/diagnóstico por imagem
Angiografia por Ressonância Magnética/métodos
[Mh] Termos MeSH secundário: Idoso
Volume Sanguíneo/fisiologia
Neoplasias Encefálicas/patologia
Diferenciação Celular/genética
Neoplasias do Sistema Nervoso Central
Circulação Cerebrovascular/fisiologia
Diagnóstico Diferencial
Imagem de Difusão por Ressonância Magnética/métodos
Feminino
Glioblastoma/diagnóstico
Glioblastoma/genética
Seres Humanos
Linfoma/diagnóstico por imagem
Linfoma/metabolismo
Masculino
Meia-Idade
Metástase Neoplásica
Sistema Nervoso/patologia
Perfusão
Curva ROC
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180118
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191341


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[PMID]:29405681
[Au] Autor:Dolomatov S; Sataieva T; Pazovsky G; Zukow W
[Ti] Título:[Neuroendocrine effects of helminthiases (A review)].
[So] Source:Parazitologiia;51(2):97-103, 2017 Mar-Apr.
[Is] ISSN:0031-1847
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:Nowadays the number of patients diagnosed with helminthiases shows tendency for steady growth around the world. During last few years, researches in the field of immunology have again turned their attention towards the question of parasitological immunity and tissue response. Helminthiases and other parasitic diseases in some instances can induce central nervous system disorders and violate human behavioral reactions. Studies have suggested an association between epilepsy and helminth infection, but a causal relationship is not established in many helminths, except perhaps with neurocysticercosis. The aim of this review is to reveal details of specific mechanisms of the general helminths' impact on the nervous system and the endocrine control level of physiological functions of the host organism. Finally, we discuss the current gaps in knowledge about the interaction between helminths, immunity, and human endocrine system. Key words: helminths, immunity, hormones, cytokines.
[Mh] Termos MeSH primário: Sistema Endócrino/imunologia
Epilepsia/imunologia
Interações Hospedeiro-Parasita/imunologia
Sistema Nervoso/imunologia
Neurocisticercose/imunologia
[Mh] Termos MeSH secundário: Animais
Citocinas/imunologia
Citocinas/metabolismo
Sistema Endócrino/metabolismo
Sistema Endócrino/parasitologia
Epilepsia/complicações
Epilepsia/metabolismo
Epilepsia/parasitologia
Helmintos/patogenicidade
Helmintos/fisiologia
Hormônios/imunologia
Hormônios/metabolismo
Seres Humanos
Imunidade Inata
Sistema Nervoso/metabolismo
Sistema Nervoso/parasitologia
Neurocisticercose/complicações
Neurocisticercose/metabolismo
Neurocisticercose/parasitologia
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Cytokines); 0 (Hormones)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180207
[St] Status:MEDLINE


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[PMID]:29304139
[Au] Autor:Janet S; Carrara VI; Simpson JA; Thin NWW; Say WW; Paw NTM; Chotivanich K; Turner C; Crawley J; McGready R
[Ad] Endereço:Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Old Road Campus, Oxford, United Kingdom.
[Ti] Título:Early neonatal mortality and neurological outcomes of neonatal resuscitation in a resource-limited setting on the Thailand-Myanmar border: A descriptive study.
[So] Source:PLoS One;13(1):e0190419, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Of the 4 million neonatal deaths worldwide yearly, 98% occur in low and middle-income countries. Effective resuscitation reduces mortality and morbidity but long-term outcomes in resource-limited settings are poorly described. This study reports on newborn neurological outcomes following resuscitation at birth in a resource-limited setting where intensive newborn care including intubation is unavailable. METHODS: Retrospective analysis of births records from 2008 to 2015 at Shoklo Malaria Research Unit (SMRU) on the Thailand-Myanmar border. FINDINGS: From 21,225 newbonrs delivered, 15,073 (71%) met the inclusion criteria (liveborn, singleton, ≥28 weeks' gestation, delivered in SMRU). Neonatal resuscitation was performed in 460 (3%; 422 basic, 38 advanced) cases. Overall early neonatal mortality was 6.6 deaths per 1000 live births (95% CI 5.40-8.06). Newborns receiving basic and advanced resuscitation presented an adjusted rate for death of 1.30 (95%CI 0.66-2.55; p = 0.442), and 6.32 (95%CI 3.01-13.26; p<0.001) respectively, compared to newborns given routine care. Main factors related to increased need for resuscitation were breech delivery, meconium, and fetal distress (p<0.001). Neurodevelopmental follow-up to one year was performed in 1,608 (10.5%) of the 15,073 newborns; median neurodevelopmental scores of non-resuscitated newborns and those receiving basic resuscitation were similar (64 (n = 1565) versus 63 (n = 41); p = 0.732), while advanced resuscitation scores were significantly lower (56 (n = 5); p = 0.017). INTERPRETATIONS: Newborns requiring basic resuscitation at birth have normal neuro-developmental outcomes at one year of age compared to low-risk newborns. Identification of risk factors (e.g., breech delivery) associated with increased need for neonatal resuscitation may facilitate allocation of staff to high-risk deliveries. This work endorses the use of basic resuscitation in low-resource settings, and supports on-going staff training to maintain bag-and-mask ventilation skills.
[Mh] Termos MeSH primário: Alocação de Recursos para a Atenção à Saúde
Mortalidade Infantil
Sistema Nervoso/fisiopatologia
Ressuscitação
[Mh] Termos MeSH secundário: Estudos de Coortes
Seres Humanos
Lactente
Recém-Nascido
Mianmar/epidemiologia
Estudos Retrospectivos
Tailândia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180106
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190419


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[PMID]:29023486
[Au] Autor:Zhang X; Sun L; Yuan J; Sun Y; Gao Y; Zhang L; Li S; Dai H; Hamel JF; Liu C; Yu Y; Liu S; Lin W; Guo K; Jin S; Xu P; Storey KB; Huan P; Zhang T; Zhou Y; Zhang J; Lin C; Li X; Xing L; Huo D; Sun M; Wang L; Mercier A; Li F; Yang H; Xiang J
[Ad] Endereço:Key Laboratory of Experimental Marine Biology & Marine Ecology and Environmental Sciences, Institute of Oceanology, Chinese Academy of Sciences, Qingdao, China.
[Ti] Título:The sea cucumber genome provides insights into morphological evolution and visceral regeneration.
[So] Source:PLoS Biol;15(10):e2003790, 2017 Oct.
[Is] ISSN:1545-7885
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Apart from sharing common ancestry with chordates, sea cucumbers exhibit a unique morphology and exceptional regenerative capacity. Here we present the complete genome sequence of an economically important sea cucumber, A. japonicus, generated using Illumina and PacBio platforms, to achieve an assembly of approximately 805 Mb (contig N50 of 190 Kb and scaffold N50 of 486 Kb), with 30,350 protein-coding genes and high continuity. We used this resource to explore key genetic mechanisms behind the unique biological characters of sea cucumbers. Phylogenetic and comparative genomic analyses revealed the presence of marker genes associated with notochord and gill slits, suggesting that these chordate features were present in ancestral echinoderms. The unique shape and weak mineralization of the sea cucumber adult body were also preliminarily explained by the contraction of biomineralization genes. Genome, transcriptome, and proteome analyses of organ regrowth after induced evisceration provided insight into the molecular underpinnings of visceral regeneration, including a specific tandem-duplicated prostatic secretory protein of 94 amino acids (PSP94)-like gene family and a significantly expanded fibrinogen-related protein (FREP) gene family. This high-quality genome resource will provide a useful framework for future research into biological processes and evolution in deuterostomes, including remarkable regenerative abilities that could have medical applications. Moreover, the multiomics data will be of prime value for commercial sea cucumber breeding programs.
[Mh] Termos MeSH primário: Evolução Biológica
Genoma
Regeneração/genética
Pepinos-do-Mar/anatomia & histologia
Pepinos-do-Mar/genética
Vísceras/fisiologia
[Mh] Termos MeSH secundário: Animais
Osso e Ossos/anatomia & histologia
Calcificação Fisiológica/genética
Sequência Conservada/genética
Genes Homeobox
Família Multigênica
Sistema Nervoso/metabolismo
Filogenia
Pepinos-do-Mar/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171022
[Lr] Data última revisão:
171022
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171013
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pbio.2003790


  5 / 17704 MEDLINE  
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[PMID]:28869351
[Au] Autor:Temereva EN
[Ad] Endereço:Department of Invertebrate Zoology, Biological Faculty, Moscow State University, Moscow, Russia.
[Ti] Título:Ground plan of the larval nervous system in phoronids: Evidence from larvae of viviparous phoronid.
[So] Source:Evol Dev;19(4-5):171-189, 2017 Jul.
[Is] ISSN:1525-142X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Nervous system organization differs greatly in larvae and adults of many species, but has nevertheless been traditionally used for phylogenetic studies. In phoronids, the organization of the larval nervous system depends on the type of development. With the goal of understanding the ground plan of the nervous system in phoronid larvae, the development and organization of the larval nervous system were studied in a viviparous phoronid species. The ground plan of the phoronid larval nervous system includes an apical organ, a continuous nerve tract under the preoral and postoral ciliated bands, and two lateral nerves extending between the apical organ and the nerve tract. A bilobed larva with such an organization of the nervous system is suggested to be the primary larva of the taxonomic group Brachiozoa, which includes the phyla Brachiopoda and Phoronida. The ground plan of the nervous system of phoronid larvae is similar to that of the early larvae of annelids and of some deuterostomians. The protostome- and deuterostome-like features, which are characteristic of many organ systems in phoronids, were probably inherited by phoronids from the last common bilaterian ancestor. The information provided here on the ground plan of the larval nervous system should be useful for future analyses of phoronid phylogeny and evolution.
[Mh] Termos MeSH primário: Invertebrados/ultraestrutura
[Mh] Termos MeSH secundário: Animais
Invertebrados/classificação
Invertebrados/crescimento & desenvolvimento
Invertebrados/fisiologia
Larva/fisiologia
Larva/ultraestrutura
Sistema Nervoso/crescimento & desenvolvimento
Sistema Nervoso/ultraestrutura
Filogenia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170905
[St] Status:MEDLINE
[do] DOI:10.1111/ede.12231


  6 / 17704 MEDLINE  
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[PMID]:28864221
[Au] Autor:Rosado-Olivieri EA; Ramos-Ortiz GA; Hernández-Pasos J; Díaz-Balzac CA; Vázquez-Rosa E; Valentín-Tirado G; Vega IE; García-Arrarás JE
[Ad] Endereço:Department of Biology, University of Puerto Rico-Río Piedras Campus, San Juan PR 00931, Puerto Rico. Electronic address: erosadoolivieri@g.harvard.edu.
[Ti] Título:A START-domain-containing protein is a novel marker of nervous system components of the sea cucumber Holothuria glaberrima.
[So] Source:Comp Biochem Physiol B Biochem Mol Biol;214:57-65, 2017 Dec.
[Is] ISSN:1879-1107
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:One of the main challenges faced by investigators studying the nervous system of members of the phylum Echinodermata is the lack of markers to identify nerve cells and plexi. Previous studies have utilized an antibody, RN1, that labels most of the nervous system structures of the sea cucumber Holothuria glaberrima and other echinoderms. However, the antigen recognized by RN1 remained unknown. In the present work, the antigen has been characterized by immunoprecipitation, tandem mass spectrometry, and cDNA cloning. The RN1 antigen contains a START lipid-binding domain found in Steroidogenic Acute Regulatory (StAR) proteins and other lipid-binding proteins. Phylogenetic tree assembly showed that the START domain is highly conserved among echinoderms. We have named this antigen HgSTARD10 for its high sequence similarity to the vertebrate orthologs. Gene and protein expression analyses revealed an abundance of HgSTARD10 in most H. glaberrima tissues including radial nerve, intestine, muscle, esophagus, mesentery, hemal system, gonads and respiratory tree. Molecular cloning of HgSTARD10, consequent protein expression and polyclonal antibody production revealed the STARD10 ortholog as the antigen recognized by the RN1 antibody. Further characterization into this START domain-containing protein will provide important insights for the biochemistry, physiology and evolution of deuterostomes.
[Mh] Termos MeSH primário: Holothuria/genética
Proteínas do Tecido Nervoso/genética
Sistema Nervoso/metabolismo
Neurônios/metabolismo
Fosfoproteínas/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Anticorpos/química
Sítios de Ligação
Biomarcadores/metabolismo
Clonagem Molecular
Escherichia coli/genética
Escherichia coli/metabolismo
Expressão Gênica
Holothuria/classificação
Holothuria/metabolismo
Proteínas do Tecido Nervoso/metabolismo
Sistema Nervoso/citologia
Neurônios/citologia
Especificidade de Órgãos
Fosfoproteínas/metabolismo
Filogenia
Ligação Proteica
Domínios e Motivos de Interação entre Proteínas
Proteínas Recombinantes/genética
Proteínas Recombinantes/metabolismo
Alinhamento de Sequência
Homologia de Sequência de Aminoácidos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies); 0 (Biomarkers); 0 (Nerve Tissue Proteins); 0 (Phosphoproteins); 0 (Recombinant Proteins); 0 (steroidogenic acute regulatory protein)
[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:170903
[St] Status:MEDLINE


  7 / 17704 MEDLINE  
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[PMID]:28858760
[Au] Autor:Chiu YM; Claus Henn B; Hsu HL; Pendo MP; Coull BA; Austin C; Cagna G; Fedrighi C; Placidi D; Smith DR; Wright RO; Lucchini RG; Arora M
[Ad] Endereço:Department of Environmental Medicine and Public Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: mathilda.chiu@mssm.edu.
[Ti] Título:Sex differences in sensitivity to prenatal and early childhood manganese exposure on neuromotor function in adolescents.
[So] Source:Environ Res;159:458-465, 2017 11.
[Is] ISSN:1096-0953
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: While studies have suggested that exposure to manganese (Mn) may be associated with neurodevelopment in school-age children, there is limited information on prenatal and postnatal Mn exposures and tremor or motor function in children. METHODS: We measured Mn levels in dentine of shed teeth, representing prenatal, early postnatal, and cumulative childhood exposure windows, from 195 children (predominantly right-handed, 92%) in Italy. Pursuit Aiming, Luria Nebraska Motor Battery, as well as Tremor and Sway system from Computerized Adaptive Testing System (CATSYS) were administered at 11-14 years old. We examined the relationships of tooth Mn (ln-transformed) with motor function using multivariable linear regressions and generalized additive models, adjusting for age, sex, and socioeconomic status index. Effect modification by sex was also examined. RESULTS: We found that higher prenatal Mn was associated with better body stability in boys in a number of sway tests (including mean sway, transversal sway, sagittal sway, sway area, and sway intensity), while Mn was associated with poorer performance in girls on all of these metrics (all p for Mn × sex interaction < 0.05). Higher prenatal Mn was also modestly associated with better hand/finger and eye-hand coordination in boys compared to girls in sex-stratified analyses, although interaction models did not reach statistical significance. For tremor, on the other hand, higher early postnatal Mn was associated with increased right-hand center frequency in girls (p for interaction < 0.01), but increased Mn level at the later postnatal period was associated with increased center frequency in boys (p for interaction = 0.01). CONCLUSIONS: This study, which used a direct measure of prenatal and childhood Mn exposure, suggested sex-specific critical windows of early life Mn exposure in relation to neuromotor function in adolescents. The sex-specific associations might be strongest with measures of whole body stability, for which the critical exposure window was during the prenatal period.
[Mh] Termos MeSH primário: Desenvolvimento Infantil/efeitos dos fármacos
Exposição Ambiental
Poluentes Ambientais/toxicidade
Manganês/toxicidade
Sistema Nervoso/efeitos dos fármacos
Efeitos Tardios da Exposição Pré-Natal/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Biomarcadores/química
Criança
Feminino
Seres Humanos
Itália/epidemiologia
Masculino
Sistema Nervoso/crescimento & desenvolvimento
Gravidez
Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente
Fatores Sexuais
Dente/química
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Biomarkers); 0 (Environmental Pollutants); 42Z2K6ZL8P (Manganese)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171120
[Lr] Data última revisão:
171120
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE


  8 / 17704 MEDLINE  
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[PMID]:28827386
[Au] Autor:Suvas S
[Ad] Endereço:Department of Ophthalmology/Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201; ssuvas@med.wayne.edu.
[Ti] Título:Role of Substance P Neuropeptide in Inflammation, Wound Healing, and Tissue Homeostasis.
[So] Source:J Immunol;199(5):1543-1552, 2017 Sep 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Substance P (SP) is an undecapeptide present in the CNS and the peripheral nervous system. SP released from the peripheral nerves exerts its biological and immunological activity via high-affinity neurokinin 1 receptor (NK1R). SP is also produced by immune cells and acts as an autocrine or paracrine fashion to regulate the function of immune cells. In addition to its proinflammatory role, SP and its metabolites in combination with insulin-like growth factor-1 are shown to promote the corneal epithelial wound healing. Recently, we showed an altered ocular surface homeostasis in unmanipulated NK1R mice, suggesting the role of SP-NK1R signaling in ocular surface homeostasis under steady-state. This review summarizes the immunobiology of SP and its effect on immune cells and immunity to microbial infection. In addition, the effect of SP in inflammation, wound healing, and corneal epithelial homeostasis in the eye is discussed.
[Mh] Termos MeSH primário: Inflamação/imunologia
Sistema Nervoso
Neuroimunomodulação
Neurotransmissores/imunologia
Substância P/imunologia
[Mh] Termos MeSH secundário: Animais
Córnea/metabolismo
Córnea/patologia
Homeostase
Seres Humanos
Fator de Crescimento Insulin-Like I/análogos & derivados
Fator de Crescimento Insulin-Like I/metabolismo
Camundongos
Receptores da Neurocinina-1/genética
Receptores da Neurocinina-1/metabolismo
Transdução de Sinais
Cicatrização
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Neurotransmitter Agents); 0 (Receptors, Neurokinin-1); 0 (insulin-like growth factor-1 D peptide); 33507-63-0 (Substance P); 67763-96-6 (Insulin-Like Growth Factor I)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171028
[Lr] Data última revisão:
171028
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170823
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1601751


  9 / 17704 MEDLINE  
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[PMID]:28796901
[Au] Autor:Dorninger F; Forss-Petter S; Berger J
[Ad] Endereço:Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Austria.
[Ti] Título:From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.
[So] Source:FEBS Lett;591(18):2761-2788, 2017 Sep.
[Is] ISSN:1873-3468
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The emerging diverse roles of ether (phospho)lipids in nervous system development and function in health and disease are currently attracting growing interest. Plasmalogens, a subgroup of ether lipids, are important membrane components involved in vesicle fusion and membrane raft composition. They store polyunsaturated fatty acids and may serve as antioxidants. Ether lipid metabolites act as precursors for the formation of glycosyl-phosphatidyl-inositol anchors; others, like platelet-activating factor, are implicated in signaling functions. Consolidating the available information, we attempt to provide molecular explanations for the dramatic neurological phenotype in ether lipid-deficient human patients and mice by linking individual functional properties of ether lipids with pathological features. Furthermore, recent publications have identified altered ether lipid levels in the context of many acquired neurological disorders including Alzheimer's disease (AD) and autism. Finally, current efforts to restore ether lipids in peroxisomal disorders as well as AD are critically reviewed.
[Mh] Termos MeSH primário: Sistema Nervoso/metabolismo
Doenças Neurodegenerativas/metabolismo
Transtornos Peroxissômicos/metabolismo
Peroxissomos/metabolismo
Fosfolipídeos/metabolismo
[Mh] Termos MeSH secundário: Animais
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Phospholipids)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170811
[St] Status:MEDLINE
[do] DOI:10.1002/1873-3468.12788


  10 / 17704 MEDLINE  
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[PMID]:28789479
[Au] Autor:Becker AB; Qian J; Gelman BB; Yang M; Bauer P; Koeppen AH
[Ad] Endereço:Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurol
[Ti] Título:Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia.
[So] Source:J Neuropathol Exp Neurol;76(8):665-675, 2017 Aug 01.
[Is] ISSN:1554-6578
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine-adenine-adenine (GAA) trinucleotide repeat expansion in one allele, and a deletion, point mutation, or insertion in the other. In 2 cases of compound heterozygous FA, the GAA expansion was inherited from the mother, and deletions from the father. Compound heterozygous FA patient 1, an 11-year-old boy (GAA, 896/c.11_12TCdel), had ataxia, chorea, cardiomyopathy, and diabetes mellitus. Compound heterozygous FA patient 2, a 28-year-old man (GAA, 744/exon 5 del), had ataxia, cardiomyopathy, and diabetes mellitus. Microscopy showed cardiomyocyte hypertrophy, iron-positive inclusions, and disrupted intercalated discs. The cardiac lesions were similar to those in age-matched homozygous FA patients with cardiomyopathy and diabetes mellitus (boy, 10, GAA 1016/1016; woman, 25, GAA 800/1100). The neuropathology was also similar and included hypoplasia of spinal cord and dorsal root ganglia, loss of large axons in dorsal roots, and atrophy of the dentate nucleus (DN). Frataxin levels in heart and DN of all 4 FA cases were at or below the detection limits of the enzyme-linked immunosorbent assay (≤10 ng/g wet weight) (normal DN: 126 ± 43 ng/g; normal heart: 266 ± 92 ng/g). The pathologic phenotype in homozygous and compound heterozygous FA is determined by residual frataxin levels rather than unique mutations.
[Mh] Termos MeSH primário: Ataxia de Friedreich/patologia
Miocárdio/patologia
Sistema Nervoso/patologia
[Mh] Termos MeSH secundário: Adulto
Criança
Ensaio de Imunoadsorção Enzimática
Ataxia de Friedreich/genética
Heterozigoto
Seres Humanos
Proteínas de Ligação ao Ferro/genética
Proteínas de Ligação ao Ferro/metabolismo
Masculino
Sistema Nervoso/metabolismo
Expansão das Repetições de Trinucleotídeos/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Iron-Binding Proteins); 0 (frataxin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170810
[St] Status:MEDLINE
[do] DOI:10.1093/jnen/nlx047



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