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1.
Clin Oral Investig ; 28(6): 305, 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38722356

RESUMO

OBJECTIVE: To evaluate the ability of the water glass treatment to penetrate zirconia and improve the bond strength of resin cement. MATERIAL AND METHODS: Water glass was applied to zirconia specimens, which were then sintered. The specimens were divided into water-glass-treated and untreated zirconia (control) groups. The surface properties of the water-glass-treated specimens were evaluated using surface roughness and electron probe micro-analyser (EPMA) analysis. A resin cement was used to evaluate the tensile bond strength, with2 and without a silane-containing primer. After 24 h in water storage at 37 °C and thermal cycling, the bond strengths were statistically evaluated with t-test, and the fracture surfaces were observed using SEM. RESULTS: The water glass treatment slightly increased the surface roughness of the zirconia specimens, and the EPMA analysis detected the water glass penetration to be 50 µm below the zirconia surface. The application of primer improved the tensile bond strength in all groups. After 24 h, the water-glass-treated zirconia exhibited a tensile strength of 24.8 ± 5.5 MPa, which was significantly higher than that of the control zirconia (17.6 ± 3.5 MPa) (p < 0.05). After thermal cycling, the water-glass-treated zirconia showed significantly higher tensile strength than the control zirconia. The fracture surface morphology was mainly an adhesive pattern, whereas resin cement residue was occasionally detected on the water-glass-treated zirconia surfaces. CONCLUSION: The water glass treatment resulted in the formation of a stable silica phase on the zirconia surface. This process enabled silane coupling to the zirconia and improved the adhesion of the resin cement.


Assuntos
Colagem Dentária , Vidro , Teste de Materiais , Cimentos de Resina , Silanos , Propriedades de Superfície , Resistência à Tração , Água , Zircônio , Zircônio/química , Cimentos de Resina/química , Silanos/química , Água/química , Colagem Dentária/métodos , Vidro/química , Microscopia Eletrônica de Varredura , Análise do Estresse Dentário
2.
J Stroke Cerebrovasc Dis ; 32(4): 107032, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36701852

RESUMO

BACKGROUND: High-dose intravenous immunoglobulin (IVIg) can be effective for patients with refractory autoimmune heparin-induced thrombocytopenia (HIT). We report two patients with autoimmune HIT (aHIT) successfully treated with early high-dose IVIg. CASE DESCRIPTION: Case 1 was a 48-year-old male who had persisting HIT with recurrent ischemic stroke after mitral valve replacement. Case 2 was a 71-year-old male who had flush heparin HIT with cerebral venous thrombosis after total hip arthroplasty. High-dose IVIg was administered 6 and 4 days after starting argatroban due to non-improved thrombocytopenia and persistently high D-dimer values, respectively. Both patients achieved favorable functional recovery at discharge as well as improvements of thrombocytopenia and hypercoagulation. CONCLUSIONS: Early high-dose IVIg may be effective for patients with aHIT and hypercoagulability.


Assuntos
Acidente Vascular Cerebral , Trombocitopenia , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Imunoglobulinas Intravenosas , Trombocitopenia/induzido quimicamente , Trombocitopenia/diagnóstico , Trombocitopenia/tratamento farmacológico , Heparina/uso terapêutico , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/tratamento farmacológico , Anticoagulantes , Ácidos Pipecólicos/uso terapêutico
3.
Muscle Nerve ; 62(6): 722-727, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32959396

RESUMO

BACKGROUND: This study aimed to elucidate the longitudinal changes in nerve ultrasound parameters of adult Charcot-Marie-Tooth disease type 1A (CMT1A) patients. METHODS: Fifteen adult patients with CMT1A prospectively underwent nerve ultrasound and clinical assessment (CMT neuropathy score [CMTNS]) at baseline and 5 y later. Nerve cross-sectional area (CSA) and echogenicity were measured in the median and sural nerves. Changes in ultrasound parameters and CMTNS and correlation between changes of ultrasound parameters and CMTNS were analyzed. RESULTS: Median and sural nerve CSAs did not change over 5 y, although CMTNS increased (P < .01). Nerve echogenicity in the sural nerve decreased over 5 y (P = .045). No correlations between changes in nerve ultrasound parameters and CMTNS were identified. CONCLUSIONS: No longitudinal changes in nerve size was detected in adult CMT1A. Exploring the factors that determine nerve size in childhood CMT1A may lead to the development of treatments.


Assuntos
Doença de Charcot-Marie-Tooth/diagnóstico por imagem , Nervo Mediano/diagnóstico por imagem , Nervo Sural/diagnóstico por imagem , Adulto , Idoso , Estudos de Casos e Controles , Doença de Charcot-Marie-Tooth/fisiopatologia , Progressão da Doença , Feminino , Humanos , Estudos Longitudinais , Masculino , Nervo Mediano/patologia , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Tamanho do Órgão , Estudos Prospectivos , Nervo Sural/patologia , Nervo Sural/fisiopatologia , Ultrassonografia
4.
Plant Biotechnol J ; 17(3): 594-607, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30133138

RESUMO

Caffeic acid O-methyltransferase (COMT), the lignin biosynthesis gene modified in many brown-midrib high-digestibility mutants of maize and sorghum, was targeted for downregulation in the small grain temperate cereal, barley (Hordeum vulgare), to improve straw properties. Phylogenetic and expression analyses identified the barley COMT orthologue(s) expressed in stems, defining a larger gene family than in brachypodium or rice with three COMT genes expressed in lignifying tissues. RNAi significantly reduced stem COMT protein and enzyme activity, and modestly reduced stem lignin content while dramatically changing lignin structure. Lignin syringyl-to-guaiacyl ratio was reduced by ~50%, the 5-hydroxyguaiacyl (5-OH-G) unit incorporated into lignin at 10--15-fold higher levels than normal, and the amount of p-coumaric acid ester-linked to cell walls was reduced by ~50%. No brown-midrib phenotype was observed in any RNAi line despite significant COMT suppression and altered lignin. The novel COMT gene family structure in barley highlights the dynamic nature of grass genomes. Redundancy in barley COMTs may explain the absence of brown-midrib mutants in barley and wheat. The barley COMT RNAi lines nevertheless have the potential to be exploited for bioenergy applications and as animal feed.


Assuntos
Hordeum/metabolismo , Lignina/metabolismo , Metiltransferases/metabolismo , Interferência de RNA , Regulação da Expressão Gênica de Plantas/genética , Genes de Plantas/genética , Hordeum/enzimologia , Hordeum/genética , Filogenia , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo
5.
BMC Genomics ; 19(1): 261, 2018 04 17.
Artigo em Inglês | MEDLINE | ID: mdl-29665776

RESUMO

Upon publication of the original article [1], the authors had flagged that Fig. 1 had been published twice, as both Fig. 1 and Additional file 3.

6.
Physiol Plant ; 163(2): 170-182, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29266248

RESUMO

We previously succeeded in enhancing wood formation of wood in transgenic poplar plants by overexpressing secondary wall NAM/ATAF/CUC (NAC) domain protein 1 from Oryza sativa (OsSWN1), a transcription factor 'master regulator' of secondary cell wall formation in rice, under control of the fiber preferential NST3/SND1 promoter from Arabidopsis. Transgenic plants had an increased cell wall thickness and cell wall density of individual cells in the secondary xylem of stems as well as an increased wood density. OsSWN1 triggers the induction of polysaccharide and lignin biosynthetic gene expressions, however, resulting in no significant impact on the lignin content in the transgenic plants. In contrast, wet and dry chemical analyses of lignin revealed changes in S/G ratio and in the composition of lignin interunit linkages in transgenic lines. The results from gene expression analysis suggest that the structural changes in lignin were due to an unbalanced induction of lignin biosynthetic genes in transgenic lines. Our present data indicate that the overexpression of the chimeric transcription factor causes accelerated deposition of secondary cell wall components including lignin and polysaccharides through an acquired mechanism.


Assuntos
Parede Celular/metabolismo , Lignina/metabolismo , Oryza/genética , Populus/metabolismo , Fatores de Transcrição/metabolismo , Arabidopsis/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Caules de Planta/genética , Caules de Planta/metabolismo , Plantas Geneticamente Modificadas , Populus/genética , Regiões Promotoras Genéticas/genética , Fatores de Transcrição/genética , Madeira/genética , Madeira/metabolismo , Xilema/genética , Xilema/metabolismo
7.
BMC Genomics ; 18(1): 539, 2017 07 18.
Artigo em Inglês | MEDLINE | ID: mdl-28720072

RESUMO

BACKGROUND: Knowledge of plant secondary cell wall (SCW) regulation and deposition is mainly based on the Arabidopsis model of a 'typical' lignocellulosic SCW. However, SCWs in other plants can vary from this. The SCW of mature cotton seed fibres is highly cellulosic and lacks lignification whereas xylem SCWs are lignocellulosic. We used cotton as a model to study different SCWs and the expression of the genes involved in their formation via RNA deep sequencing and chemical analysis of stem and seed fibre. RESULTS: Transcriptome comparisons from cotton xylem and pith as well as from a developmental series of seed fibres revealed tissue-specific and developmentally regulated expression of several NAC transcription factors some of which are likely to be important as top tier regulators of SCW formation in xylem and/or seed fibre. A so far undescribed hierarchy was identified between the top tier NAC transcription factors SND1-like and NST1/2 in cotton. Key SCW MYB transcription factors, homologs of Arabidopsis MYB46/83, were practically absent in cotton stem xylem. Lack of expression of other lignin-specific MYBs in seed fibre relative to xylem could account for the lack of lignin deposition in seed fibre. Expression of a MYB103 homolog correlated with temporal expression of SCW CesAs and cellulose synthesis in seed fibres. FLAs were highly expressed and may be important structural components of seed fibre SCWs. Finally, we made the unexpected observation that cell walls in the pith of cotton stems contained lignin and had a higher S:G ratio than in xylem, despite that tissue's lacking many of the gene transcripts normally associated with lignin biosynthesis. CONCLUSIONS: Our study in cotton confirmed some features of the currently accepted gene regulatory cascade for 'typical' plant SCWs, but also revealed substantial differences, especially with key downstream NACs and MYBs. The lignocellulosic SCW of cotton xylem appears to be achieved differently from that in Arabidopsis. Pith cell walls in cotton stems are compositionally very different from that reported for other plant species, including Arabidopsis. The current definition of a 'typical' primary or secondary cell wall might not be applicable to all cell types in all plant species.


Assuntos
Parede Celular/metabolismo , Perfilação da Expressão Gênica , Gossypium/citologia , Gossypium/genética , Celulose/biossíntese , Gossypium/metabolismo , Especificidade de Órgãos , Caules de Planta/crescimento & desenvolvimento , Caules de Planta/metabolismo , Propanóis/metabolismo , Fatores de Transcrição/metabolismo , Transcrição Gênica
9.
Plant Cell Rep ; 35(3): 513-26, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26601823

RESUMO

KEY MESSAGE: A candidate gene for phenylcoumaran benzylic ether reductase in Arabidopsis thaliana encodes a peptide with predicted functional activity and plays a crucial role in secondary metabolism. Phenylcoumaran benzylic ether reductase (PCBER) is thought to be an enzyme crucial in the biosynthesis of 8-5'-linked neolignans. Genes of the enzyme have been isolated and characterized in several plant species. In this study, we cloned cDNA and the 5'-untranslated region of one PCBER candidate gene (At4g39230, designated AtPCBER1) from Arabidopsis thaliana. At the amino acid level, AtPCBER1 shows high sequence identity (64-71 %) with PCBERs identified from other plant species. Expression analyses of AtPCBER1 by reverse transcriptase-polymerase chain reaction and histochemical analysis of transgenic plants harboring the 5'-untranslated region of AtPCBER1 linked with gus coding sequence indicate that expression is induced by wounding and is expressed in most tissues, including flower, stem, leaf, and root. Catalytic analysis of recombinant AtPCBER1 with neolignan and lignans in the presence of NADPH suggests that the protein can reduce not only the 8-5'-linked neolignan, dehydrodiconiferyl alcohol, but also 8-8' linked lignans, pinoresinol, and lariciresinol, with lower activities. To investigate further, we performed metabolomic analyses of transgenic plants in which the target gene was up- or down-regulated. Our results indicate no significant effects of AtPCBER1 gene regulation on plant growth and development; however, levels of some secondary metabolites, including lignans, flavonoids, and glucosinolates, differ between wild-type and transgenic plants. Taken together, our findings indicate that AtPCBER1 encodes a polypeptide with PCBER activity and has a critical role in the biosynthesis of secondary metabolites in A. thaliana.


Assuntos
Proteínas de Arabidopsis/genética , Arabidopsis/genética , Regulação Enzimológica da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Oxirredutases/genética , Arabidopsis/enzimologia , Proteínas de Arabidopsis/classificação , Proteínas de Arabidopsis/metabolismo , Biocatálise , Flavonoides/metabolismo , Furanos/metabolismo , Perfilação da Expressão Gênica/métodos , Glucosinolatos/metabolismo , Lignanas/metabolismo , Metabolômica/métodos , Oxirredutases/classificação , Oxirredutases/metabolismo , Fenóis/metabolismo , Filogenia , Plantas Geneticamente Modificadas , Análise de Componente Principal , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Espectrometria de Massas em Tandem
10.
Plant Biotechnol J ; 13(6): 821-32, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25580543

RESUMO

Bacteria-derived enzymes that can modify specific lignin substructures are potential targets to engineer plants for better biomass processability. The Gram-negative bacterium Sphingobium sp. SYK-6 possesses a Cα-dehydrogenase (LigD) enzyme that has been shown to oxidize the α-hydroxy functionalities in ß-O-4-linked dimers into α-keto analogues that are more chemically labile. Here, we show that recombinant LigD can oxidize an even wider range of ß-O-4-linked dimers and oligomers, including the genuine dilignols, guaiacylglycerol-ß-coniferyl alcohol ether and syringylglycerol-ß-sinapyl alcohol ether. We explored the possibility of using LigD for biosynthetically engineering lignin by expressing the codon-optimized ligD gene in Arabidopsis thaliana. The ligD cDNA, with or without a signal peptide for apoplast targeting, has been successfully expressed, and LigD activity could be detected in the extracts of the transgenic plants. UPLC-MS/MS-based metabolite profiling indicated that levels of oxidized guaiacyl (G) ß-O-4-coupled dilignols and analogues were significantly elevated in the LigD transgenic plants regardless of the signal peptide attachment to LigD. In parallel, 2D NMR analysis revealed a 2.1- to 2.8-fold increased level of G-type α-keto-ß-O-4 linkages in cellulolytic enzyme lignins isolated from the stem cell walls of the LigD transgenic plants, indicating that the transformation was capable of altering lignin structure in the desired manner.


Assuntos
Arabidopsis/metabolismo , Lignina/metabolismo , Oxirredutases/metabolismo , Sphingomonadaceae/enzimologia , Arabidopsis/enzimologia , Parede Celular/enzimologia , Parede Celular/metabolismo , Dimerização , Fenóis/metabolismo
11.
J Neurol Neurosurg Psychiatry ; 86(4): 378-84, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25091364

RESUMO

OBJECTIVE: To elucidate the ultrasound (US) features of peripheral nerves including nerve roots in patients with different types of Charcot-Marie-Tooth disease (CMT), and the association between US findings, clinical features and parameters of nerve conduction studies (NCS) in CMT1A. METHODS: US of median, sural and great auricular nerves and the C6 nerve root was performed in patients with CMT1A (n=20), MPZ-associated CMT (n=3), NEFL-associated CMT (n=4), EGR2-associated CMT (n=1), ARHGEF10-associated CMT (n=1) and in controls (n=30). In patients with CMT1A, we analysed the correlations between US findings and the following parameters: age, CMT Neuropathy Score (CMTNS) and NCS indices of the median nerve. RESULTS: Cross-sectional areas (CSAs) of all the nerves were significantly increased in patients with CMT1A compared with that in controls. In MPZ-associated CMT, increased CSAs were found in the median nerve at wrist and in the great auricular nerve, whereas it was not increased in patients with NEFL-associated CMT. In patients with CMT1A, there was a positive correlation between CMTNS and the CSAs in the median nerves or great auricular nerves. In median nerves in patients with CMT1A, we found a negative correlation between the nerve conduction velocity and the CSA. CONCLUSIONS: Nerve US may aid in differentiating among the subtypes of CMT in combination with NCS. In CMT1A, the median nerve CSA correlates with the disease severity and peripheral nerve function.


Assuntos
Doença de Charcot-Marie-Tooth/diagnóstico por imagem , Nervos Periféricos/diagnóstico por imagem , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Anatomia Transversal , Doença de Charcot-Marie-Tooth/genética , Criança , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa , Ultrassonografia , Adulto Jovem
12.
Muscle Nerve ; 49(5): 745-8, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24037920

RESUMO

INTRODUCTION: In this study we aimed to clarify whether muscle ultrasound (US) of the forearm can be used to differentiate between patients with sporadic inclusion body myositis (s-IBM) and those with s-IBM-mimicking diseases. METHODS: We compared the echo intensity (EI) of the flexor digitorum profundus (FDP) muscle and the flexor carpi ulnaris (FCU) muscles in patients with s-IBM (n = 6), polymyositis/dermatomyositis (PM/DM; n = 6), and amyotrophic lateral sclerosis (ALS; n = 6). RESULTS: We identified EI abnormalities in 100% of patients with s-IBM, 33% of those with PM/DM, and 33% of those with ALS. An "FDP-FCU echogenicity contrast," a US pattern involving a higher EI in the FDP than in the FCU, was observed in all patients with s-IBM, but in none of those with PM/DM or ALS. CONCLUSIONS: FDP-FCU echogenicity contrast in muscle US is a sensitive diagnostic indicator of s-IBM.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico por imagem , Dermatomiosite/diagnóstico por imagem , Antebraço/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Miosite de Corpos de Inclusão/diagnóstico por imagem , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Ultrassonografia
13.
Brain ; 136(Pt 8): 2563-78, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23884813

RESUMO

Lymphoma causes various neurological manifestations that might affect any part of the nervous system and occur at any stage of the disease. The peripheral nervous system is one of the major constituents of the neurological involvement of lymphoma. In this study we characterized the clinical, electrophysiological and histopathological features of 32 patients with neuropathy associated with non-Hodgkin's lymphoma that were unrelated to complications resulting from treatment for lymphoma. Nine patients had pathologically-proven neurolymphomatosis with direct invasion of lymphoma cells into the peripheral nervous system. These patients showed lymphomatous cell invasion that was more prominent in the proximal portions of the nerve trunk and that induced demyelination without macrophage invasion and subsequent axonal degeneration in the portion distal from the demyelination site. Six other patients were also considered to have neurolymphomatosis because these patients showed positive signals along the peripheral nerve on fluorodeoxyglucose positron emission tomography imaging. Spontaneous pain can significantly disrupt daily activities, as frequently reported in patients diagnosed with neurolymphomatosis. In contrast, five patients were considered to have paraneoplastic neuropathy because primary peripheral nerve lesions were observed without the invasion of lymphomatous cells, with three patients showing features compatible with chronic inflammatory demyelinating polyneuropathy, one patient showing sensory ganglionopathy, and one patient showing vasculitic neuropathy. Of the other 12 patients, 10 presented with multiple mononeuropathies. These patients showed clinical and electrophysiological features similar to those of neurolymphomatosis rather than paraneoplastic neuropathy. Electrophysiological findings suggestive of demyelination were frequently observed, even in patients with neurolymphomatosis. Eleven of the 32 patients, including five patients with neurolymphomatosis, fulfilled the European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic criteria of definite chronic inflammatory demyelinating polyneuropathy. Some of these patients, even those with neurolymphomatosis, responded initially to immunomodulatory treatments, including the administration of intravenous immunoglobulin and steroids. Patients with lymphoma exhibit various neuropathic patterns, but neurolymphomatosis is the major cause of neuropathy. Misdiagnoses of neurolymphomatosis as chronic inflammatory demyelinating polyneuropathy are frequent due to a presence of a demyelinating pattern and the initial response to immunomodulatory treatments. The possibility of the concomitance of lymphoma should be considered in various types of neuropathy, even if the diagnostic criteria of chronic inflammatory demyelinating polyneuropathy are met, particularly in patients complaining of pain.


Assuntos
Neoplasias do Sistema Nervoso Central/patologia , Linfoma/patologia , Condução Nervosa/fisiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Sistema Nervoso Central/complicações , Neoplasias do Sistema Nervoso Central/fisiopatologia , Eletrodiagnóstico , Feminino , Humanos , Linfoma/complicações , Linfoma/fisiopatologia , Masculino , Pessoa de Meia-Idade , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/complicações , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/fisiopatologia , Estudos Retrospectivos
14.
Appl Microbiol Biotechnol ; 98(19): 8165-77, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25056291

RESUMO

Pinoresinol reductase and pinoresinol/lariciresinol reductase play important roles in an early step of lignan biosynthesis in plants. The activities of both enzymes have also been detected in bacteria. In this study, pinZ, which was first isolated as a gene for bacterial pinoresinol reductase, was constitutively expressed in Arabidopsis thaliana under the control of the cauliflower mosaic virus 35S promoter. Higher reductive activity toward pinoresinol was detected in the resultant transgenic plants but not in wild-type plant. Principal component analysis of data from untargeted metabolome analyses of stem, root, and leaf extracts of the wild-type and two independent transgenic lines indicate that pinZ expression caused dynamic metabolic changes in stems, but not in roots and leaves. The metabolome data also suggest that expression of pinZ influenced the metabolisms of lignan and glucosinolates but not so much of neolignans such as guaiacylglycerol-8-O-4'-feruloyl ethers. In-depth quantitative analysis by liquid chromatography-tandem mass spectrometry (LC-MS/MS) indicated that amounts of pinoresinol and its glucoside form were markedly reduced in the transgenic plant, whereas the amounts of glucoside form of secoisolariciresinol in transgenic roots, leaves, and stems increased. The detected levels of lariciresinol in the transgenic plant following ß-glucosidase treatment also tended to be higher than those in the wild-type plant. Our findings indicate that overexpression of pinZ induces change in lignan compositions and has a major effect not only on lignan biosynthesis but also on biosynthesis of other primary and secondary metabolites.


Assuntos
Arabidopsis/metabolismo , Proteínas de Bactérias/genética , Lignanas/biossíntese , Oxirredutases/genética , Plantas Geneticamente Modificadas/metabolismo , Sphingomonadaceae/enzimologia , Arabidopsis/genética , Proteínas de Bactérias/metabolismo , Engenharia Metabólica , Oxirredutases/metabolismo , Plantas Geneticamente Modificadas/genética , Sphingomonadaceae/genética
15.
Neuropathology ; 34(3): 309-13, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24397755

RESUMO

Multiple system atrophy (MSA) is an oligodendrogliopathy of presumably sporadic origin, characterized by prominent α-synuclein inclusions with neuronal multisystem degeneration, although a few Mendelian pedigrees have been reported. Here we report two familial cases of MSA of unknown genetic background. One patient was diagnosed as a possible MSA-C (cerebellar dysfuntion) case, and the other as clinically possible MSA-P (parkinsonism), which turned out to be definite MSA, based on a detailed autopsy. The neuropathology showed extensive deposition of α-synuclein in the glia as well as in the neurons located in the cerebral cortices and hippocampal systems, although neither multiplication of the SNCA gene or mutations in COQ2 gene were identified in the family concerned.


Assuntos
Atrofia de Múltiplos Sistemas/diagnóstico , Atrofia de Múltiplos Sistemas/genética , Idoso , Evolução Fatal , Humanos , Masculino , Linhagem
17.
Cureus ; 15(4): e37824, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37213971

RESUMO

Laminopathy is muscular dystrophy caused by an LMNA gene mutation. It is characterized by cardiac disease such as atrial fibrillation. We report a case of laminopathy in a 49-year-old woman who presented with cardiogenic stroke. She had experienced weakness in her limb-girdle muscles since childhood, atrial fibrillation, cardiomyopathy, and mild contracture of the ankle joints, and had a familial history of heart disease. Gene analysis identified a novel heterozygous variant, c. 1135C>A (p.Leu379Ile), in the LMNA gene. Laminopathy can be an underlying disease in ischemic stroke, especially in young to middle age.

18.
Clin Neurophysiol ; 146: 124-130, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36608530

RESUMO

OBJECTIVE: To elucidate the utility of the proximal to distal compound muscle action potential (CMAP) duration ratio to distinguish between demyelinating Charcot-Marie-Tooth disease (CMT) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) compared with nerve ultrasound. METHODS: Thirty-nine demyelinating CMT patients and 19 CIDP patients underwent nerve conduction studies (NCS) and nerve ultrasound. NCS parameters including CMAP duration ratio calculated by dividing the value at the proximal site by that at the distal site and nerve cross-sectional area (CSA) measured by ultrasound were compared between the two groups. The diagnostic sensitivity and specificity of each parameter were analysed. RESULTS: CMT patients showed a significantly lower CMAP duration ratio than CIDP patients (p < 0.05). The area under the curve (AUC) value of the CMAP duration ratio exceeded 0.95 when CMT was considered "positive", and a cut-off value of 1.13 resulted in high diagnostic sensitivity and specificity (84.6 and 100 % for median nerve, 97.4 and 85.7 % for ulnar nerve, respectively), whereas the AUC value of nerve CSA ranged from 0.70 to 0.81. CONCLUSIONS: The CMAP duration ratio could effectively distinguish between demyelinating CMT and CIDP. SIGNIFICANCE: Adding the CMAP duration ratio to a routine NCS may improve the accuracy of the diagnosis of demyelinating CMT.


Assuntos
Doença de Charcot-Marie-Tooth , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Humanos , Doença de Charcot-Marie-Tooth/diagnóstico por imagem , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico por imagem , Potenciais de Ação/fisiologia , Condução Nervosa/fisiologia , Músculos
19.
Rinsho Shinkeigaku ; 63(6): 350-358, 2023 Jun 28.
Artigo em Japonês | MEDLINE | ID: mdl-37197973

RESUMO

To clarify the natural courses, medical conditions, and problems in daily life and medical care of the patients with Charcot-Marie-Tooth disease (CMT) in Japan, we have developed a patient registration system (CMT Patient Registry (CMTPR)). We analyzed data of questionnaires from 303 patients (males: 162, females: 141, mean age: 45.9 years old) who registered for CMTPR. The age of onset was less than 15 years old in 45% and more than 60 years old in 5% of the patients. Genetic testing was performed in 65%, and about half of the patients with genetic testing had a duplication of the PMP22 gene. Seventy-six percent of the patients had regular visits to medical facilities. Five percent of patients had no history of hospital visits. Fifteen percent of all patients needed assistance with daily activities due to motor function impairment in the upper extremities, and 25% required assistance due to lower limb impairment. There were no significant differences in the need for assistance by gender or age. Of the 267 adult patients, 18% had difficulty working due to reasons related to the disease, although none of the junior patients reported any problem attending school. This was the first nationwide epidemiological study with healthcare and welfare information on patients with CMT in Japan. We hope the results of this study will lead to better welfare and medical care in CMT patients.


Assuntos
Doença de Charcot-Marie-Tooth , Adulto , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Adolescente , Doença de Charcot-Marie-Tooth/epidemiologia , Doença de Charcot-Marie-Tooth/genética , Japão/epidemiologia , Testes Genéticos , Sistema de Registros
20.
Nat Commun ; 14(1): 3959, 2023 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-37402814

RESUMO

Prophylactic vaccines for SARS-CoV-2 have lowered the incidence of severe COVID-19, but emergence of viral variants that are antigenically distinct from the vaccine strains are of concern and additional, broadly acting preventive approaches are desirable. Here, we report on a glycolipid termed 7DW8-5 that exploits the host innate immune system to enable rapid control of viral infections in vivo. This glycolipid binds to CD1d on antigen-presenting cells and thereby stimulates NKT cells to release a cascade of cytokines and chemokines. The intranasal administration of 7DW8-5 prior to virus exposure significantly blocked infection by three different authentic variants of SARS-CoV-2, as well as by respiratory syncytial virus and influenza virus, in mice or hamsters. We also found that this protective antiviral effect is both host-directed and mechanism-specific, requiring both the CD1d molecule and interferon-[Formula: see text]. A chemical compound like 7DW8-5 that is easy to administer and cheap to manufacture may be useful not only in slowing the spread of COVID-19 but also in responding to future pandemics long before vaccines or drugs are developed.


Assuntos
COVID-19 , Vacinas contra Influenza , Influenza Humana , Camundongos , Animais , Humanos , SARS-CoV-2 , COVID-19/prevenção & controle , Vacinas contra COVID-19
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