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1.
Pediatr Neurosurg ; 57(5): 365-370, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35640559

RESUMEN

INTRODUCTION: Moyamoya syndrome associated with Williams syndrome is very rare but has been reported to have severe outcomes. Here, we reported a case of Williams syndrome with moyamoya syndrome that was confirmed by the presence of an RNF213 mutation. CASE PRESENTATION: A 6-year-old boy with Williams syndrome presented with right hemiparesis induced by hyperventilation. Magnetic resonance angiography and cerebral angiography showed severe stenosis of the bilateral internal carotid arteries and development of moyamoya vessels. Genetic analysis identified a heterozygous c.14576G>A (p.R4859K) mutation in RNF213. Moyamoya syndrome was diagnosed, and bilateral indirect revascularization surgery was conducted without complications and with a good postoperative course. In moyamoya syndrome associated with Williams syndrome, adequate perioperative management of both the moyamoya arteries and the cardiovascular abnormalities is important to prevent complications. CONCLUSION: This was the first report on a case in which moyamoya syndrome associated with Williams syndrome was confirmed by the presence of a heterozygous RNF213 mutation. Similar to the workup of moyamoya disease, confirmation of RNF213 mutation in Williams syndrome may be useful in predicting the development of moyamoya syndrome that can lead to severe complications.


Asunto(s)
Enfermedad de Moyamoya , Síndrome de Williams , Masculino , Humanos , Niño , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/genética , Predisposición Genética a la Enfermedad , Síndrome de Williams/complicaciones , Síndrome de Williams/diagnóstico por imagen , Síndrome de Williams/genética , Adenosina Trifosfatasas/genética , Ubiquitina-Proteína Ligasas/genética
2.
Epilepsy Behav ; 103(Pt A): 106535, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31645317

RESUMEN

OBJECTIVE: We aimed to clarify the association between magnetic resonance imaging (MRI)-lesion patterns, including cortices and white matters, and the development, occurrence, and intractableness of West syndrome in patients with tuberous sclerosis complex (TSC), using visual analysis. METHODS: We collected data for 44 patients with TSC who had undergone brain MRI and developmental evaluation after the ages of 2 and 3 years, respectively. Fluid-attenuated inversion recovery (FLAIR) and T1-weighted images were used to analyze the number of cyst-like tubers, the number of cyst-like subcortical lesions, and the presence of diffuse lesions involving the cortices and white matter. RESULTS: Developmental delays were observed in 28 patients. Nineteen patients had a history of West syndrome. Cyst-like tubers (range: 1-10), cyst-like subcortical lesions (range: 1-4), and diffuse lesions (range: 1-6 areas) were observed in 15, 9, and 14 patients, respectively. In the univariate analyses, all MRI findings were associated with development and/or history of West syndrome. However, in the multivariate analyses, only the diffuse lesion was associated with severe development (p = 0.003) and history of West syndrome (p = 0.012). In the subanalysis of patients with West syndrome, the diffuse lesions were also associated with pharmacological intractableness. Patients with diffuse lesions had a history of West syndrome with sensitivity of 68% and specificity of 96%. Patients with two or more areas of diffuse lesions had history of pharmacologically intractable West syndrome with sensitivity of 89% and specificity of 91%. CONCLUSIONS: Diffuse lesions may help to predict the poor neurological outcomes in patients with TSC.


Asunto(s)
Corteza Cerebral/diagnóstico por imagen , Imagen por Resonancia Magnética , Espasmos Infantiles/etiología , Esclerosis Tuberosa/complicaciones , Sustancia Blanca/diagnóstico por imagen , Adolescente , Corteza Cerebral/patología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Análisis Multivariante , Pronóstico , Estudios Retrospectivos , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/terapia , Esclerosis Tuberosa/diagnóstico por imagen , Esclerosis Tuberosa/patología , Sustancia Blanca/patología , Adulto Joven
3.
Clin Genet ; 92(2): 180-187, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28177126

RESUMEN

BACKGROUND: Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal microangiopathy with calcifications and cysts, but evidence suggests that they are genetically distinct. Mutations in CTS telomere maintenance complex component 1 (CTC1) and small nucleolar RNA, C/D box 118 (SNORD118) genes have been found to cause Coats plus and LCC, respectively. MATERIALS AND METHODS: Eight unrelated families with LCC were recruited. These patients typically showed major neuroradiological findings of LCC with no signs of extra-neurological manifestations such as retinal abnormality, gastrointestinal bleeding, or hematological abnormalities. SNORD118 was examined by Sanger sequencing in these families. RESULTS: Seven out of eight probands carry compound heterozygous mutations, suggesting that SNORD118 mutations are the major cause of LCC. We identified a total of eight mutation, including four that were novel. Some of the variants identified in this study present heterozygously in public databases with an extremely rare frequency (<0.1%). CONCLUSION: Biallelic SNORD118 mutations were exclusively found in most unrelated families with LCC.


Asunto(s)
Calcinosis/genética , Quistes del Sistema Nervioso Central/genética , Predisposición Genética a la Enfermedad , Leucoencefalopatías/genética , ARN Nucleolar Pequeño/genética , Adulto , Alelos , Encéfalo/fisiopatología , Calcinosis/epidemiología , Calcinosis/fisiopatología , Quistes del Sistema Nervioso Central/epidemiología , Quistes del Sistema Nervioso Central/fisiopatología , Quistes/genética , Bases de Datos Factuales , Femenino , Heterocigoto , Humanos , Leucoencefalopatías/epidemiología , Leucoencefalopatías/fisiopatología , Masculino , Mutación , Proteínas de Unión a Telómeros/genética
5.
Int J Cancer ; 138(7): 1698-708, 2016 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-26576938

RESUMEN

Epithelial cell adhesion molecule (EpCAM) has been implicated in multiple cellular functions including cell adhesion. EpCAM has also recently been identified as a marker for cancer stem cells (CSCs). Here, we examined the roles of EpCAM in the development of bone metastasis of breast cancer by using well-characterized animal models. Morphological and real-time reverse transcriptase-polymerase chain reaction data showed that the EpCAM-negative and -positive (EpCAM(neg) and EpCAM(pos) ) cell populations isolated from breast cancer cell lines exhibited mesenchymal and epithelial phenotypes, respectively. Flow cytometric analysis revealed that EpCAM(pos) , but not EpCAM(neg) , cells possessed self-renewal and differentiation potentials. Tumorsphere formation in suspension cultures and tumorigenicity in the orthotopic mammary fat pad of mice were significantly greater in EpCAM(pos) cells than in EpCAM(neg) cells. The development of bone metastases induced by an intracardiac injection was markedly increased in mice inoculated with EpCAM(pos) cells. Furthermore, intracardiac inoculations of parental cells demonstrated that the EpCAM(pos) population in cancer cells that colonized in bone was significantly higher than that in parental cells. However, stable transduction of EpCAM into EpCAM(neg) cells failed to reproduce the phenotypes of EpCAM(pos) cells. These results suggest that the expression of EpCAM in breast cancer cells is associated with CSC-like phenotypes, which contribute to the promotion of bone metastases by enhancing tumorigenicity. Our results also support the possibility that the epithelial phenotypes of EpCAM-expressing cells confer advantageous properties for the development of bone metastases, at least after entering the circulation, while EpCAM is likely not solely responsible for the phenotypes of EpCAM(pos) cells.


Asunto(s)
Antígenos de Neoplasias/metabolismo , Neoplasias Óseas/secundario , Neoplasias de la Mama/patología , Moléculas de Adhesión Celular/metabolismo , Invasividad Neoplásica/patología , Células Madre Neoplásicas/patología , Animales , Línea Celular Tumoral , Separación Celular , Molécula de Adhesión Celular Epitelial , Femenino , Citometría de Flujo , Humanos , Immunoblotting , Inmunohistoquímica , Ratones , Ratones Endogámicos BALB C , Ratones Desnudos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transducción Genética
6.
Appl Microbiol Biotechnol ; 99(10): 4287-95, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25487892

RESUMEN

Cellobiose 2-epimerase (CE) catalyzes the reversible epimerization of cellobiose to 4-O-ß-D-glucopyranosyl-D-mannose. By using a PCR-based metagenomic approach, 71 ce-like gene fragments were obtained from wide-ranging environmental samples such as sheep rumen, soils, sugar beet extracts, and anaerobic sewage sludge. The frequency of isolation of the fragments similar to known sequences varied depending on the nature of the samples used. The ce-like genes appeared to be widely distributed in environmental bacteria belonging to the phyla Bacteroidetes, Chloroflexi, Dictyoglomi, Firmicutes, Proteobacteria, Spirochaetes, and Verrucomicrobia. The phylogenetic analysis suggested that the cluster of CE and CE-like proteins was functionally and evolutionarily separated from that of N-acetyl-D-glucosamine 2-epimerase (AGE) and AGE-like proteins. Two ce-like genes containing full-length ORFs, designated md1 and md2, were obtained by PCR and expressed in Escherichia coli. The recombinant mD1 and mD2 exhibited low K m values and high catalytic efficiencies (k cat/K m) for mannobiose compared with cellobiose, suggesting that they should be named mannobiose 2-epimerase, which is involved in a new mannan catabolic pathway we proposed.


Asunto(s)
Bacterias/enzimología , Proteínas Bacterianas/genética , Celobiosa/metabolismo , Metagenómica , Racemasas y Epimerasas/genética , Rumen/microbiología , Secuencia de Aminoácidos , Animales , Bacterias/clasificación , Bacterias/genética , Bacterias/aislamiento & purificación , Proteínas Bacterianas/química , Proteínas Bacterianas/metabolismo , Cinética , Datos de Secuencia Molecular , Filogenia , Reacción en Cadena de la Polimerasa , Racemasas y Epimerasas/química , Racemasas y Epimerasas/metabolismo , Alineación de Secuencia , Ovinos , Microbiología del Suelo , Especificidad por Sustrato
7.
Arch Microbiol ; 196(1): 17-23, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24217874

RESUMEN

We have proposed a new mannan catabolic pathway in Bacteroides fragilis NCTC 9343 that involves a putative mannanase ManA in glycoside hydrolase family 26 (BF0771), a mannobiose and/or sugar transporter (BF0773), mannobiose 2-epimerase (BF0774), and mannosylglucose phosphorylase (BF0772). If this hypothesis is correct, ManA has to generate mannobiose from mannans as the major end product. In this study, the BF0771 gene from the B. fragilis genome was cloned and expressed in Escherichia coli cells. The expressed protein was found to produce mannobiose exclusively from mannans and initially from manno-oligosaccharides. Production of 4-O-ß-D-glucopyranosyl-D-mannose or 4-O-ß-D-mannopyranosyl-D-glucose from mannans was not detectable. The results indicate that this enzyme is a novel mannobiose-forming exo-mannanase, consistent with the new microbial mannan catabolic pathway we proposed.


Asunto(s)
Bacteroides fragilis/enzimología , Mananos/metabolismo , Manosidasas/genética , Manosidasas/metabolismo , Bacteroides fragilis/genética , Bacteroides fragilis/metabolismo , Activación Enzimática , Estabilidad de Enzimas , Escherichia coli/genética , Concentración de Iones de Hidrógeno , Mananos/biosíntesis , Manosidasas/aislamiento & purificación , Oligosacáridos/metabolismo , Proteínas Recombinantes/genética , Temperatura
8.
Proc Natl Acad Sci U S A ; 108(19): 7997-8002, 2011 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-21518884

RESUMEN

It is well known that prokaryotic life can withstand extremes of temperature, pH, pressure, and radiation. Little is known about the proliferation of prokaryotic life under conditions of hyperacceleration attributable to extreme gravity, however. We found that living organisms can be surprisingly proliferative during hyperacceleration. In tests reported here, a variety of microorganisms, including Gram-negative Escherichia coli, Paracoccus denitrificans, and Shewanella amazonensis; Gram-positive Lactobacillus delbrueckii; and eukaryotic Saccharomyces cerevisiae, were cultured while being subjected to hyperaccelerative conditions. We observed and quantified robust cellular growth in these cultures across a wide range of hyperacceleration values. Most notably, the organisms P. denitrificans and E. coli were able to proliferate even at 403,627 × g. Analysis shows that the small size of prokaryotic cells is essential for their proliferation under conditions of hyperacceleration. Our results indicate that microorganisms cannot only survive during hyperacceleration but can display such robust proliferative behavior that the habitability of extraterrestrial environments must not be limited by gravity.


Asunto(s)
Bacterias/crecimiento & desarrollo , Medio Ambiente Extraterrestre , Hongos/crecimiento & desarrollo , Hipergravedad , Aceleración , Bacterias/citología , Escherichia coli/crecimiento & desarrollo , Exobiología , Hongos/citología , Bacterias Gramnegativas/crecimiento & desarrollo , Bacterias Grampositivas/crecimiento & desarrollo , Presión Hidrostática , Paracoccus denitrificans/crecimiento & desarrollo , Saccharomyces cerevisiae/crecimiento & desarrollo , Estrés Mecánico
9.
Nihon Rinsho ; 72(5): 845-52, 2014 May.
Artículo en Japonés | MEDLINE | ID: mdl-24912285

RESUMEN

Recently, the treatment strategy for pediatric epilepsy has been dramatically changed in Japan, because of the approval of new-generation antiepileptic drugs. Since 2006, a total of 6 new antiepileptic drugs, including gabapentin (GBP; adults/pediatric patients: 2006/2011 [year of approval]), topiramate (TPM; 2007/2013), lamotrigine (LTG; 2008/2008), levetiracetam (LEV; 2010/2013), stiripentol (STP; 2012/2012), and rufinamide (RUF; 2013/2013), have been introduced. Thus far, valproate (VPA) and carbamazepine (CBZ) have been first indicated for "generalized" epilepsy and "focal" epilepsy syndromes/types, respectively, in Japan. However, the approval of these new drugs could allow us to choose more effective and less toxic ones at an early stage of treatment. In this chapter, we describe the latest domestic and foreign guidelines for the treatment of pediatric epilepsy.


Asunto(s)
Anticonvulsivantes , Epilepsia/tratamiento farmacológico , Adolescente , Aminas , Anticonvulsivantes/administración & dosificación , Carbamazepina , Niño , Preescolar , Ácidos Ciclohexanocarboxílicos , Dioxolanos , Aprobación de Drogas , Sustitución de Medicamentos , Fructosa/análogos & derivados , Gabapentina , Humanos , Lactante , Lamotrigina , Levetiracetam , Educación del Paciente como Asunto , Piracetam/análogos & derivados , Guías de Práctica Clínica como Asunto , Topiramato , Triazinas , Triazoles , Ácido Valproico , Ácido gamma-Aminobutírico
10.
PNAS Nexus ; 3(7): pgae264, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39045016

RESUMEN

Collective motion provides a spectacular example of self-organization in Nature. Visual information plays a crucial role among various types of information in determining interactions. Recently, experiments have revealed that organisms such as fish and insects selectively utilize a portion, rather than the entirety, of visual information. Here, focusing on fish, we propose an agent-based model where the direction of attention is guided by visual stimuli received from the images of nearby fish. Our model reproduces a branching phenomenon where a fish selectively follows a specific individual as the distance between two or three nearby fish increases. Furthermore, our model replicates various patterns of collective motion in a group of agents, such as vortex, polarized school, swarm, and turning. We also discuss the topological nature of the visual interaction, as well as the positional distribution of nearby fish and the map of pairwise and three-body interactions induced by them. Through a comprehensive comparison with existing experimental results, we clarify the roles of visual interactions and issues to be resolved by other forms of interactions.

11.
Neurobiol Dis ; 49: 29-40, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22986304

RESUMEN

Dravet syndrome is an intractable epileptic encephalopathy characterized by early onset epileptic seizures followed by cognitive decline, hyperactivity, autistic behaviors and ataxia. Most Dravet syndrome patients possess heterozygous mutations of SCN1A gene encoding voltage-gated sodium channel αI subunit (Nav1.1). We have previously reported that mice heterozygous for a nonsense mutation in Scn1a developed early onset epileptic seizures. However, the learning ability and sociability of the mice remained to be investigated. In the present study, we subjected heterozygous Scn1a mice to a comprehensive behavioral test battery. We found that while heterozygous Scn1a mice had lowered spontaneous motor activity in home cage, they were hyperactive in novel environments. Moreover, the mice had low sociability and poor spatial learning ability that correspond to the autistic behaviors and cognitive decline seen in Dravet syndrome patients. These results suggest that Nav1.1 haploinsufficiency intrinsically contributes to not only epileptic seizures but also lowered sociability and learning impairment in heterozygous Scn1a mutant mice, as it should also be the case in patients with Dravet syndrome.


Asunto(s)
Epilepsias Mioclónicas/psicología , Discapacidades para el Aprendizaje/fisiopatología , Canal de Sodio Activado por Voltaje NAV1.1/deficiencia , Conducta Social , Animales , Encéfalo/fisiopatología , Modelos Animales de Enfermedad , Electrodos Implantados , Electroencefalografía , Aseo Animal/fisiología , Haploinsuficiencia , Masculino , Aprendizaje por Laberinto/fisiología , Ratones de la Cepa 129 , Ratones Endogámicos C57BL , Ratones Transgénicos , Actividad Motora/fisiología , Canal de Sodio Activado por Voltaje NAV1.1/genética , Aprendizaje Inverso/fisiología , Prueba de Desempeño de Rotación con Aceleración Constante , Olfato/fisiología
12.
Cell Metab ; 6(5): 406-13, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17983586

RESUMEN

Enterocytes assemble dietary lipids into chylomicron particles that are taken up by intestinal lacteal vessels and peripheral tissues. Although chylomicrons are known to assemble in part within membrane secretory pathways, the modifications required for efficient vascular uptake are unknown. Here we report that the transcription factor pleomorphic adenoma gene-like 2 (PlagL2) is essential for this aspect of dietary lipid metabolism. PlagL2(-/-) mice die from postnatal wasting owing to failure of fat absorption. Lipids modified in the absence of PlagL2 exit from enterocytes but fail to enter interstitial lacteal vessels. Dysregulation of enterocyte genes closely linked to intracellular membrane transport identified candidate regulators of critical steps in chylomicron assembly. PlagL2 thus regulates important aspects of dietary lipid absorption, and the PlagL2(-/-) animal model has implications for the amelioration of obesity and the metabolic syndrome.


Asunto(s)
Quilomicrones/metabolismo , Proteínas de Unión al ADN/fisiología , Proteínas de Unión al ARN/fisiología , Factores de Transcripción/fisiología , Animales , Transporte Biológico , Northern Blotting , Quilomicrones/farmacocinética , Proteínas de Unión al ADN/genética , Grasas de la Dieta/metabolismo , Grasas de la Dieta/farmacocinética , Enterocitos/metabolismo , Inmunohistoquímica , Mucosa Intestinal/metabolismo , Intestino Delgado/metabolismo , Metabolismo de los Lípidos , Ratones , Ratones Noqueados , Análisis de Secuencia por Matrices de Oligonucleótidos , Proteínas de Unión al ARN/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Factores de Transcripción/genética
13.
Histochem Cell Biol ; 137(6): 733-42, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22327831

RESUMEN

The cells of the subodontoblastic cell-rich layer in dental pulp are speculated to contain odontoblast progenitor cells because of their positional relationship with odontoblasts as well as their high alkaline phosphatase (ALP) activity. However, it has yet to be determined whether these cells have the ability to differentiate into odontoblastic cells. In the present study, we firstly found that the majority of cells in the subodontoblastic layer expressed Thy-1, a cell-surface marker of stem and progenitor cells. Then, we evaluated the capacity of Thy-1 high- and low-expressing (Thy-1(high) and Thy-1(low)) cells separated from rat dental pulp cells by use of a fluorescence-activated cell sorter to differentiate into hard tissue-forming cells in vitro and in vivo. Following stimulation with bone morphogenetic protein-2, Thy-1(high) cells in vitro showed accelerated induction of ALP activity and formation of alizarin red-positive mineralized matrix compared with Thy-1(low) cells. Furthermore, subcutaneous implantation of Thy-1(high) cells efficiently induced the formation of bone-like matrix. These results collectively suggest that Thy-1-positive dental pulp cells localized in the subodontoblastic layer had the ability to differentiate into hard tissue-forming cells, and thus these cells may serve as a source of odontoblastic cells.


Asunto(s)
Diferenciación Celular , Odontoblastos/metabolismo , Antígenos Thy-1/metabolismo , Fosfatasa Alcalina/genética , Fosfatasa Alcalina/metabolismo , Animales , Proteína Morfogenética Ósea 2/metabolismo , Proliferación Celular , Células Cultivadas , Pulpa Dental/citología , Pulpa Dental/fisiología , Odontoblastos/citología , Ratas , Ratas Endogámicas Lew , Ratas Transgénicas
14.
J Ind Microbiol Biotechnol ; 39(1): 55-62, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21681484

RESUMEN

A heat-labile phenolic acid decarboxylase from Candida guilliermondii (an anamorph of Pichia guilliermondii) was purified to homogeneity by simple successive column chromatography within 3 days. The molecular mass was 20 kDa by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and 36 kDa by gel-filtration chromatography, suggesting that the purified enzyme is a homodimer. The optimal pH and temperature were approximately 6.0 and 25°C. Characteristically, more than 50% of the optimal activity was observed at 0°C, suggesting that this enzyme is cold-adapted. The enzyme converted p-coumaric acid, ferulic acid, and caffeic acid to corresponding products with high specific activities of approximately 600, 530, and 46 U/mg, respectively. The activity was stimulated by Mg(2+) ions, whereas it was completely inhibited by Fe(2+), Ni(2+), Cu(2+), Hg(2+), 4-chloromericuribenzoate, N-bromosuccinimide, and diethyl pyrocarbonate. The enzyme was inducible and expressed inside the cells moderately by ferulic acid and p-coumaric acid and significantly by non-metabolizable 6-hydroxy-2-naphthoic acid.


Asunto(s)
Candida/enzimología , Carboxiliasas/metabolismo , Ácidos Cafeicos/metabolismo , Carboxiliasas/química , Carboxiliasas/aislamiento & purificación , Cromatografía en Gel , Ácidos Cumáricos/metabolismo , Electroforesis en Gel de Poliacrilamida , Metales/farmacología , Peso Molecular , Naftalenos/metabolismo , Propionatos , Especificidad por Sustrato
15.
Clin Case Rep ; 10(12): e6736, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36540877

RESUMEN

Serum prostate-specific antigen (PSA) levels play an important role in the screening and diagnosis of prostate cancer (PCa). The recommended PSA cut-off in PCa screening is 4 ng/ml. We report two cases of localized PCa with low PSA levels that were incidentally found by computed tomography (CT) performed for another disease.

16.
J Clin Neurosci ; 103: 100-106, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35868225

RESUMEN

The objective of the present retrospective study was analysis of clinical, radiological, and electrophysiological characteristics of the non-lesional late-onset epilepsy (NLLOE) in the elderly Japanese patients, and comparison of the seizure outcomes in this population with regard to presence of comorbid dementia. The study cohort comprised 89 consecutive patients with NLLOE aged ≥ 65 years. In 49 cases (55%), NLLOE manifested with a single type of seizure. Focal impaired awareness seizures (FIAS) were encountered most often (in 69 patients; 78%). Ten patients (11%) had a history of the status epilepticus. Comorbid dementia was diagnosed in 31 patients (35%). Localized or diffuse white matter hyperintensity was the most common imaging finding (66 cases). Epileptiform discharges in the temporal area represented the most frequent abnormality on interictal EEG (24 cases). Seizure-free status for ≥ 12 months was attained in 46 out of 64 patients (72%), who were followed for ≥ 12 months (range, 12 - 110 months), and 42 of them received monotherapy, mainly with levetiracetam (21 patients), carbamazepine (10 patients), or lacosamide (8 patients). In comparison to their counterparts, the rate of seizure-free status for ≥ 12 months was significantly lower in patients with comorbid dementia (81% vs. 52%; P = 0.0205). In conclusion, the NLLOE among Japanese patients aged ≥ 65 years has variable presenting characteristics, and comorbid dementia is diagnosed in one-third of cases. Seizure-free status for ≥ 12 months may be attained in more than two-thirds of treated patients, but comorbid dementia is associated with significantly worse response to antiseizure therapy.


Asunto(s)
Demencia , Epilepsia , Anciano , Anticonvulsivantes , Electroencefalografía , Humanos , Japón , Estudios Retrospectivos , Convulsiones
17.
Epileptic Disord ; 24(1): 82-94, 2022 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-35118943

RESUMEN

OBJECTIVE: To examine the current medical and psychosocial status of patients with epilepsy, aiming to facilitate appropriate application of the Intractable/Rare Diseases Act of Japan. METHODS: By analysing the cross-sectional data of patients registered in the tertiary hospital-based Epilepsy Syndrome Registry of Japan, we investigated the proportion of patients who met the severity criteria as defined by the Act (seizure frequency of at least once a month, or presence of intellectual/neurological/psychiatric symptoms, or both) and whether there are candidate syndrome/diseases to be added to the existing list in the Act. RESULTS: In total, 2,209 patients were registered. After excluding self-limited/idiopathic epilepsies, 1,851 of 2,110 patients (87.7%) met the severity criteria. The patients were classified into eight main epilepsy syndromes (594 patients), 20 groups based on aetiology (1,078 patients), and three groups without known aetiology (427 patients). Most of the groups classified by syndrome or aetiology had high proportions of patients satisfying the severity criteria (>90%), but some groups had relatively low proportions (<80%) resulting from favourable outcome of surgical therapy. Several small groups with known syndrome/aetiology await detailed analysis based on a sufficiently large enough number of patients registered, some of whom may potentially be added to the list of the Act. SIGNIFICANCE: The registry provides data to examine the usefulness of the severity criteria and list of diseases that are operationally defined by the Act. Most epilepsy patients with various syndromes/diseases and aetiology groups are covered by the Act but some are not, and the list of designated syndromes/diseases should be complemented by further amendments, as suggested by future research.


Asunto(s)
Epilepsia , Convulsiones , Comorbilidad , Estudios Transversales , Epilepsia/epidemiología , Síndromes Epilépticos , Encuestas Epidemiológicas , Humanos , Japón/epidemiología , Sistema de Registros , Convulsiones/epidemiología , Centros de Atención Terciaria
18.
Biochem Biophys Res Commun ; 408(4): 701-6, 2011 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-21539815

RESUMEN

The consecutive genes BF0771-BF0774 in the genome of Bacteroides fragilis NCTC 9343 were found to constitute an operon. The functional analysis of BF0772 showed that the gene encoded a novel enzyme, mannosylglucose phosphorylase that catalyzes the reaction, 4-O-ß-d-mannopyranosyl-d-glucose+Pi→mannose-1-phosphate+glucose. Here we propose a new mannan catabolic pathway in the anaerobe, which involves 1,4-ß-mannanase (BF0771), a mannobiose and/or sugar transporter (BF0773), mannobiose 2-epimerase (BF0774), and mannosylglucose phosphorylase (BF0772), finally progressing to glycolysis. This pathway is distributed in microbes such as Bacteroides, Parabacteroides, Flavobacterium, and Cellvibrio.


Asunto(s)
Proteínas Bacterianas/metabolismo , Bacteroides fragilis/enzimología , Disacáridos/metabolismo , Genes Bacterianos , Glucosa/metabolismo , Mananos/metabolismo , Fosforilasas/metabolismo , Secuencia de Aminoácidos , Proteínas Bacterianas/genética , Bacteroides fragilis/genética , Catálisis , Datos de Secuencia Molecular , Fosforilasas/genética , Transcripción Genética
19.
Bioorg Med Chem ; 19(16): 4721-9, 2011 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-21795053

RESUMEN

Novel vitamin D(3) analogs with carboxylic acid were explored, focusing on a nonsecosteroidal analog, LG190178, with a bisphenyl skeleton. From X-ray analysis of these analogs with vitamin D receptor (VDR), the carboxyl groups had very unique hydrogen bonding interactions in VDR and mimicked 1α-hydroxy group and/or 3ß-hydroxy group of 1α,25-dihydroxyvitamin D(3). A highly potent analog, 6a, with good in vitro activity and pharmacokinetic profiles was identified from an SAR study. Compound 6a showed significant prevention of bone loss in a rat osteoporosis model by oral administration.


Asunto(s)
Conservadores de la Densidad Ósea/síntesis química , Colecalciferol/análogos & derivados , Osteoporosis/tratamiento farmacológico , Animales , Densidad Ósea/efectos de los fármacos , Conservadores de la Densidad Ósea/química , Conservadores de la Densidad Ósea/farmacología , Calcitriol/análogos & derivados , Calcitriol/química , Calcitriol/farmacología , Calcio/sangre , Línea Celular , Colecalciferol/farmacología , Colecalciferol/uso terapéutico , Evaluación Preclínica de Medicamentos , Femenino , Humanos , Ratones , Osteocalcina/análisis , Osteocalcina/fisiología , Osteoporosis/fisiopatología , Ratas , Ratas Sprague-Dawley , Receptores de Calcitriol/agonistas , Receptores de Calcitriol/efectos de los fármacos , Receptores de Calcitriol/genética , Esteroides/química , Relación Estructura-Actividad
20.
Dev Med Child Neurol ; 53(7): 658-63, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21501156

RESUMEN

AIM: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a metabolic encephalopathy that can be effectively treated with a ketogenic diet. The aim of this study was to consolidate the effectiveness of the modified Atkins diet (MAD) as an alternative treatment for GLUT1-DS. METHOD: Six Japanese males with GLUT1-DS were selected for treatment with the MAD. Their age at the time the MAD was instituted ranged from 7 to 16 years and the duration of treatment ranged from 1 to 42 months. All participants had early-onset epilepsy. Each participant's neuropsychological activity, seizure frequency, neurological status, and electroencephalographic (EEG) findings were compared before and after the introduction of the MAD. RESULTS: After initiation of the treatment, all individuals showed +2 to +3 urinary ketosis on a ketostick test check. Epileptic seizures and other paroxysmal events decreased markedly in all individuals. Interictal EEG showed improvement in the background activity and disappearance of epileptic discharges. Along with an increased vigilance level, improvement in motivation and cognitive function was also achieved. Non-paroxysmal permanent ataxia, spasticity, dysarthria, and dystonia were moderately improved in four individuals and slightly improved in the remaining two. Preprandial transient aggravation of neurological symptoms completely disappeared in all participants. There were no significant side effects. INTERPRETATION: For the treatment of GLUT1-DS, the MAD is less restrictive, more palatable, and easier to maintain than the conventional ketogenic diet, but its effectiveness was similar. Thus, MAD treatment is promising for individuals with GLUT1-DS and their families.


Asunto(s)
Encéfalo/fisiopatología , Cognición , Dieta Baja en Carbohidratos , Electroencefalografía , Epilepsia/fisiopatología , Adolescente , Errores Innatos del Metabolismo de los Carbohidratos/complicaciones , Errores Innatos del Metabolismo de los Carbohidratos/dietoterapia , Errores Innatos del Metabolismo de los Carbohidratos/fisiopatología , Niño , Dieta Baja en Carbohidratos/métodos , Epilepsia/genética , Humanos , Cetosis/orina , Masculino , Proteínas de Transporte de Monosacáridos/deficiencia , Pruebas Neuropsicológicas , Resultado del Tratamiento
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