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1.
Radiologia (Engl Ed) ; 64(3): 266-269, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35676058

RESUMO

Neurolymphomatosis (NL) is the infiltration of cranial nerves or nerves and roots from the peripheral nervous system by lymphoma, usually by B-cell non-Hodgkin's lymphoma. It is uncommon as initial presentation of the disease and can lead to extremely heterogeneous clinical manifestations. We report the case of a 72-year old male who presented with numbness of the right hand, progressive weakness in both lower limbs and weight loss. 18F-FDG PET/CT showed bilateral hypermetabolic adrenal masses, gastric ulcer, small hypermetabolic adenopathies, multiple focal bone marrow uptake and intense uptake in both sciatic nerves and right median nerve. A node and gastric biopsy confirmed diffuse large-B-cell lymphoma, activated B cell type, with posterior resolution of peripheral nerves uptake after beginning chemotherapy.


Assuntos
Linfoma Difuso de Grandes Células B , Neurolinfomatose , Idoso , Humanos , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/diagnóstico por imagem , Linfoma Difuso de Grandes Células B/patologia , Linfoma não Hodgkin , Masculino , Nervo Mediano/patologia , Neurolinfomatose/diagnóstico por imagem , Neurolinfomatose/etiologia , Neurolinfomatose/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tomografia por Emissão de Pósitrons , Neoplasias Gástricas
2.
Radiología (Madr., Ed. impr.) ; 64(3): 266-269, May-Jun 2022. ilus
Artigo em Espanhol | IBECS | ID: ibc-204584

RESUMO

La neurolinfomatosis es la infiltración de los nervios craneales o de los nervios y raíces del sistema nervioso periférico por un linfoma, generalmente un linfoma no Hodgkin de linfocitos B. Es poco frecuente como presentación inicial de la enfermedad y puede dar lugar a manifestaciones clínicas extremadamente heterogéneas. Informamos del caso de un hombre de 72 años que presentaba entumecimiento de la mano derecha, debilidad progresiva en ambas extremidades inferiores y pérdida de peso. La PET/TC con 18F-FDG mostró masas suprarrenales hipermetabólicas bilaterales, úlcera gástrica, pequeñas adenopatías hipermetabólicas, captación de médula ósea de focalización múltiple y captación intensa tanto en los nervios ciáticos como en el nervio mediano derecho. La biopsia gástrica y de los ganglios confirmó un linfoma difuso de linfocitos B grandes, del tipo de linfocitos B activados, con una resolución posterior de la captación de los nervios periféricos después de iniciar la quimioterapia.(AU)


Neurolymphomatosis (NL) is the infiltration of cranial nerves or nerves and roots from the peripheral nervous system by lymphoma, usually by B-cell non-Hodgkin's lymphoma. It is uncommon as initial presentation of the disease and can lead to extremely heterogeneous clinical manifestations. We report the case of a 72-year old male who presented with numbness of the right hand, progressive weakness in both lower limbs and weight loss. 18F-FDG PET/CT showed bilateral hypermetabolic adrenal masses, gastric ulcer, small hypermetabolic adenopathies, multiple focal bone marrow uptake and intense uptake in both sciatic nerves and right median nerve. A node and gastric biopsy confirmed diffuse large-B-cell lymphoma, activated B cell type, with posterior resolution of peripheral nerves uptake after beginning chemotherapy.(AU)


Assuntos
Humanos , Masculino , Idoso , Neurolinfomatose , Nervo Isquiático , Nervo Mediano , Nervos Cranianos , Linfócitos B , Linfoma de Células B , Hipestesia , Radiologia
3.
Radiologia (Engl Ed) ; 2020 Dec 24.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33358595

RESUMO

Neurolymphomatosis (NL) is the infiltration of cranial nerves or nerves and roots from the peripheral nervous system by lymphoma, usually by B-cell non-Hodgkin's lymphoma. It is uncommon as initial presentation of the disease and can lead to extremely heterogeneous clinical manifestations. We report the case of a 72-year old male who presented with numbness of the right hand, progressive weakness in both lower limbs and weight loss. 18F-FDG PET/CT showed bilateral hypermetabolic adrenal masses, gastric ulcer, small hypermetabolic adenopathies, multiple focal bone marrow uptake and intense uptake in both sciatic nerves and right median nerve. A node and gastric biopsy confirmed diffuse large-B-cell lymphoma, activated B cell type, with posterior resolution of peripheral nerves uptake after beginning chemotherapy.

4.
Eur J Pain ; 22(2): 311-318, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28975684

RESUMO

BACKGROUND: Neuropathic pain is one of the most important challenges in public health. The search for novel treatments is important for an adequate relief without adverse effects. In this sense salvinorin A (SA), the main diterpene of the medicinal plant Salvia divinorum is an important antinociceptive compound, which acts as a potent agonist of kappa opioid receptor (KOR) and cannabinoid CB1 receptors. METHODS: We evaluated nociceptive responses in a neuropathic pain model induced by the sciatic nerve ligature (SNL) in the right hind paw, after the microinjection of SA, Salvinorin B (SB), KOR and CB1 antagonists directly in the insular cortex (IC) in male wistar rats. RESULTS: We found a potent antinociceptive effect with the administration of SA. Moreover, this effect was blocked by the administration of a KOR antagonist as well as the administration of a CB1 antagonist. CONCLUSION: Salvinorin A has a potent antinociceptive effect when is administered centrally in the IC by the interaction with KOR and CB1 receptors. SIGNIFICANCE: We show evidence on the effectiveness of the administration of salvinorin A in the IC in a rodent model of neuropathic pain. These results support the use of novel compounds like SA as a therapeutic alternative for neuropathic pain relief.


Assuntos
Córtex Cerebral/efeitos dos fármacos , Diterpenos Clerodânicos/farmacologia , Neuralgia/tratamento farmacológico , Nociceptividade/efeitos dos fármacos , Animais , Diterpenos Clerodânicos/uso terapêutico , Masculino , Antagonistas de Entorpecentes/farmacologia , Ratos , Ratos Wistar , Receptor CB1 de Canabinoide/agonistas , Receptor CB1 de Canabinoide/antagonistas & inibidores , Receptores Opioides kappa/agonistas
5.
Neurosci Biobehav Rev ; 55: 498-509, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26067902

RESUMO

The N170 component is the most important electrophysiological index of face processing. Early studies concluded that it was insensitive to facial expression, thus supporting dual theories postulating separate mechanisms for identity and expression encoding. However, recent evidence contradicts this assumption. We conducted a meta-analysis to resolve inconsistencies and to derive theoretical implications. A systematic revision of 128 studies analyzing N170 in response to neutral and emotional expressions yielded 57 meta-analyzable experiments (involving 1645 healthy adults). First, the N170 was found to be sensitive to facial expressions, supporting proposals arguing for integrated rather than segregated mechanisms in the processing of identity and expression. Second, this sensitivity is heterogeneous, with anger, fear and happy faces eliciting the largest N170 amplitudes. Third, we explored some modulatory factors, including the focus of attention - N170 amplitude was found to be also sensitive to unattended expressions - or the reference electrode -common reference reinforcing the effects- . In sum, N170 is a valuable tool to study the neural processing of facial expressions in order to develop current theories.


Assuntos
Encéfalo/fisiologia , Potenciais Evocados Visuais , Expressão Facial , Reconhecimento Facial/fisiologia , Adolescente , Adulto , Emoções/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
6.
Neuroscience ; 247: 309-18, 2013 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-23742846

RESUMO

Theiler's murine encephalomyelitis virus (TMEV) induces demyelination in susceptible strains of mice through a CD4(+) Th1 T cell-mediated immunopathological process. TMEV infection produces a syndrome in mice that resembles multiple sclerosis. In this work, we focused on the increased expression of the genes encoding voltage-gated Ca(2+) channel subunits in SJL/J mouse astrocytes infected in culture with a BeAn strain of TMEV. Affymetrix DNA murine genome U74v2 DNA microarray hybridized with cRNA from mock- and TMEV-infected astrocytes revealed the upregulation of four sequences encoding Ca(2+)-binding and Ca(2+) channel subunit proteins. The DNA hybridization results were further validated using conventional RT-PCR and quantitative RT-PCR, demonstrating the increased expression of mRNA encoding channel subunit proteins. Western blotting also showed the increased synthesis of L- and N-type channel subunit specific proteins after infection. The reduced expression and the functional upregulation of functional voltage-gated Ca(2+) channels in mock- and TMEV-infected cells, respectively, was demonstrated using voltage clamp experiments. TMEV infection in mouse astrocytes induced a Ca(2+) current with a density proportional to the amount of viral particles used for infection. The use of Ca(2+) channel blockers, nimodipine and ω-conotoxin-GVIA, showed that both functional L- and N-type Ca(2+) channels were upregulated in infected astrocytes. The upregulation of Ca(2+) channels in astrocytes after TMEV infection provides insight into the molecular processes and potential role of astrocyte Ca(2+) dysregulation in the pathophysiology of encephalomyelitis and is important for the development of novel therapeutic strategies leading to prevention of neurodegeneration.


Assuntos
Astrócitos/metabolismo , Astrócitos/virologia , Canais de Cálcio/biossíntese , Poliomielite/metabolismo , Theilovirus/patogenicidade , Regulação para Cima/fisiologia , Animais , Linhagem Celular , Células Cultivadas , Cricetinae , Camundongos , Poliomielite/fisiopatologia , Poliomielite/veterinária
7.
Langmuir ; 26(13): 11050-9, 2010 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-20380451

RESUMO

Many biologically relevant monolayers show coexistence of discrete domains of a long-range ordered condensed phase dispersed in a continuous, disordered, liquid-expanded phase. In this work, we determined the viscous and elastic components of the compressibility modulus and the shear viscosity of monolayers exhibiting phase coexistence with the aim at elucidating the contribution of each phase to the observed monolayer mechanical properties. To this purpose, mixed monolayers with different proportions of distearoylphosphatidylcholine (DSPC) and dimyristoylphosphatidylcholine (DMPC) were prepared and their rheological properties were analyzed. The relationship between the phase diagram of the mixture at 10 mN m(-1) and the rheological properties was studied. We found that the monolayer shear viscosity is highly dependent on the presence of domains and on the domain density. In turn, the monolayer compressibility is only influenced by the presence of domains for high domain densities. For monolayers that look homogeneous on the micrometer scale (DSPC amount lower that 23 mol %), all the analyzed rheological properties remain similar to those observed for pure DMPC monolayers, indicating that in this proportion range the DSPC molecules contribute as DMPC to the surface rheology in spite of having hydrocarbon chains four carbons longer.


Assuntos
Dimiristoilfosfatidilcolina/química , Fosfatidilcolinas/química , Água/química , Ar , Microscopia de Fluorescência , Microscopia de Contraste de Fase , Eletricidade Estática
8.
Rev. méd. Chile ; 135(5): 620-630, mayo 2007. graf, tab
Artigo em Espanhol | LILACS | ID: lil-456679

RESUMO

Background: Severe sepsis (SS) is the leading cause of death in the Intensive Care Units (ICU). Aim: To study the prevalence of SS in Chilean ICUs. Material and methods: An observational, cross-sectional study using a predesigned written survey was done in all ICUs of Chile on April 21st, 2004. General hospital and ICU data and the number of hospitalized patients in the hospital and in the ICU at the survey day, were recorded. Patients were followed for 28 days. Results: Ninety four percent of ICUs participated in the survey. The ICU occupation index was 66 percent. Mean age of patients was 57.7+18 years and 59 percent were male, APACHE II score was 15+7.5 and SOFA score was 6+4. SS was the admission diagnosis of 94 of the 283 patients (33 percent) and 38 patients presented SS after admission. On the survey day, 112 patients fulfilled SS criteria (40 percent). APACHE II and SOFA scores were significantly higher in SS patients than in non SS patients. Global case-fatality ratio at 28 days was 15.9 percent (45/283). Case-fatality ratio in patients with or without SS at the moment of the survey was 26.7 percent (30/112) and 8.7 percent (17/171), respectively p <0.05. Thirteen percent of patients who developed SS after admission, died. Case-fatality ratios for patients with SS from Santiago and the other cities were similar, but APACHE II score was significantly higher in patients from Santiago. In SS patients, the independent predictors of mortality were SS as cause of hospital admission, APACHE II and SOFA scores. Ninety nine percent of SS patients had a known sepsis focus (48 percent respiratory and 30 percent abdominal). Eighty five patients that presented SS after admission, had a respiratory focus. Conclusions: SS is highly prevalent in Chilean ICUs and represents the leading diagnosis at admission. SS as cause of hospitalization, APA CHE II and SOFA scores were independent predictors of mortality.


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Unidades de Terapia Intensiva , Sepse/epidemiologia , Chile/epidemiologia , Métodos Epidemiológicos , Insuficiência de Múltiplos Órgãos/epidemiologia , Sepse/microbiologia , Sepse/mortalidade
9.
Rev. méd. Chile ; 135(4): 496-500, abr. 2007. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-456661

RESUMO

Acute pulmonary edema caused by thiazides is uncommon and of difficult diagnosis. It is considered an idiosyncratic reaction and the physiopathology or cardiac function changes are not well known. We report a 60 year-old female with a thiazide induced acute pulmonary edema who was followed with serial measurements of type B n-terminal natriuretic peptide fraction as marker for cardiac dysfunction. There was a significant elevation of the peptide, not associated to evidences of ventricular dysfunction. Its normalization paralleled the resolution of the clinical picture.


Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Anti-Hipertensivos/efeitos adversos , Hidroclorotiazida/efeitos adversos , Edema Pulmonar/induzido quimicamente , Doença Aguda , Biomarcadores/sangue , Peptídeo Natriurético Encefálico/sangue , Edema Pulmonar/sangue
10.
Interv Neuroradiol ; 12(3): 251-6, 2006 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-20569579

RESUMO

SUMMARY: The literature on the incidence of "mirror image" bilateral giant intracavernous aneurysms, their symptoms and their association with other entities is reviewed, with a brief comment on their evolution and treatment. A case of "mirror image" bilateral giant intracavernous aneurysms in a 76-year-old man who presented a sudden diplopia with pupillary sparing is reported. A CT scan showed parasellar images and dolichomega circle of Willis arteries that enhanced with endovenous contrast. MRI and angiography disclose bilateral aneurysms in detail, associated with an anomalous origin of the left common carotid artery and bilateral renal artery stenosis.

11.
Nat Prod Res ; 20(1): 9-12, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16286301

RESUMO

The distribution of gamma-linolenic acid (GLA) was studied in the seed oil of six Cape Verdian Boraginaceae. The GLA ranges from trace levels in the three Heliotropum surveyed to 22.2% on saponifiable oil in Echium stenosiphon. All Echium species had GLA percentages in their seed oil around 20%. Echium seeds yield saponifiable oil from 15.8% (E. stenosiphon) to 17.3% (E. hypertropicum).


Assuntos
Boraginaceae/química , Ácido gama-Linolênico/isolamento & purificação , Boraginaceae/embriologia , Cromatografia Gasosa , Óleos de Plantas/química , Sementes/química , Especificidade da Espécie , Ácido gama-Linolênico/análise
12.
Rev Neurol ; 41(11): 667-75, 2005.
Artigo em Espanhol | MEDLINE | ID: mdl-16317636

RESUMO

AIM: Acid sensing ion channels (ASIC) members of the ENaC degenerine channel family, have been shown to participate in various sensorial pathways including nociception, also they have been shown to participate in synaptic transmission, learning and memory processes and in the physiopathology of the ischemic stroke. DEVELOPMENT: The proton concentration in the organism is strictly regulated by distinct buffer systems. Drastic changes of pH are generated only by pathological conditions as is the ischemia; however, some physiological processes may produce local changes in the extracellular pH. Recently, a new family of proton receptors known as ASIC has been cloned. These are ionic channels inactivated at physiological pH (7.4) and activated with a pH fall (increase in H+ concentration). ASICs are permeable to sodium ions and in a lesser degree to calcium ions, activation of these channels leads to an increase in cell excitability. The ASICs are distributed widely in the central and peripheral nervous system, and in specialized epithelia. In the past few years they have become a focus of interest due to its role in nociception, taste perception, long term potentation and the physiopathology of ischemic stroke. CONCLUSIONS: In this review we address the most relevant molecular, physiological and pharmacological aspects of the ASICs, its participation in some pathological process, and the perspectives of basic and clinic investigation in this arising research field.


Assuntos
Proteínas de Membrana , Proteínas do Tecido Nervoso , Prótons , Canais de Sódio , Canais Iônicos Sensíveis a Ácido , Animais , Permeabilidade da Membrana Celular , Proteínas de Membrana/química , Proteínas de Membrana/classificação , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Modelos Moleculares , Proteínas do Tecido Nervoso/química , Proteínas do Tecido Nervoso/classificação , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Filogenia , Canais de Sódio/química , Canais de Sódio/classificação , Canais de Sódio/genética , Canais de Sódio/metabolismo
13.
Rev. neurol. (Ed. impr.) ; 41(11): 667-675, 1 dic., 2005. ilus
Artigo em Es | IBECS | ID: ibc-042670

RESUMO

Objetivo. Realizar una revisión sobre los canales iónicos ASIC (acid sensing ion channels), los cuales se han investigado arduamente desde su clonación; se ha podido demostrar su participación en diversas modalidades sensoriales incluida la nocicepción, así como en la transmisión sináptica, procesos de memoria y aprendizaje y en la fisiopatología del daño por isquemia cerebral. Desarrollo. La concentración de protones en el organismo está regulada de manera muy estricta por distintos sistemas amortiguadores. Cambios drásticos de pH se generan únicamente bajo condiciones patológicas como la isquemia; sin embargo, algunos procesos fisiológicos producen cambios locales de pH extracelular. Recientemente, se ha clonado una nueva familia de receptores de protones conocida como ASIC. Éstos son canales iónicos que se encuentran inactivos al pH fisiológico (7,4) y se activan cuando el pH desciende, son permeables al ión de sodio y en menor medida al de calcio, y al activarse incrementan la excitabilidad de la célula que los expresa. Se encuentran distribuidos ampliamente en el sistema nervioso central y periférico, así como en epitelios especializados. En los últimos años su estudio se ha intensificado debido a su papel en la nocicepción, en la percepción gustativa, en la potenciación de larga duración y en la fisiopatología de la isquemia cerebral. Conclusiones. En esta revisión se discuten los aspectos moleculares, fisiológicos y farmacología de los ASIC, su participación en algunos procesos patológicos y las perspectivas de investigación básica y clínica en este incipiente campo de investigación (AU)


Aim. Acid sensing ion channels (ASIC) members of the ENaC de generine channel family, have been shown to participate in various sensorial pathways including nociception, also they have been shown to participate in synaptic transmission, learning and memory processes and in the physiopathology of the ischemic stroke. Development. The proton concentration in the organism is strictly regulated by distinct buffer systems. Drastic changes of pH are generated only by pathological conditions as is the ischemia; however, some physiological processes may produce local changes in the extracellular pH. Recently, a new family of proton receptors known as ASIC has been cloned. These are ionic channels in activated at physiological pH (7.4) and activated with a pH fall (increase in H+ concentration). ASICs are permeable to sodium ions and in a lesser degree to calcium ions, activation of these channels leads to an increase in cell excitability. The Asics are distributed widely in the central and peripheral nervous system, and in specialized epithelia. In the past few years they have become a focus of interest due to its role in nociception, taste perception, long term potentiation and the physiopathology of ischemic stroke. Conclusions. In this review we address the most relevant molecular, physiological and pharmacological aspects of the ASICs, its participation in some pathological process, and the perspectives of basic and clinic investigation in this arising research field (AU)


Assuntos
Animais , Proteínas de Membrana/química , Proteínas de Membrana/classificação , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Proteínas do Tecido Nervoso/química , Proteínas do Tecido Nervoso/classificação , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Prótons , Canais de Sódio/química , Canais de Sódio/classificação , Canais de Sódio/genética , Canais de Sódio/metabolismo , Permeabilidade da Membrana Celular , Modelos Moleculares , Filogenia
14.
Rev. méd. Chile ; 133(7): 761-766, jul. 2005. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-429134

RESUMO

Background: Cardiac output can be measured non invasively by transesophageal Doppler. This is an alternative to measure it by thermodilution with a catheter in the pulmonary artery. Aim: To compare both methods of cardiac output measurement. Material and methods: Simultaneous measurement of cardiac output by transesophageal Doppler and thermodilution with a catheter in the pulmonary artery in four male critical patients, aged 60±12 years, hospitalized in a University Hospital. The Bland and Altman method to compare the concordance between two measurements, was used. Results: Forty measurements were performed. The results of both methods had a correlation coefficient of 0.98. According to the Bland and Altman method, the difference between both methods was -0.5 L with a precision of 0.52 L/min (95% confidence interval -1.51 to 0.52 L/min). Considering that a change between two sequential measurements is considered significant when the difference is more than 15%, both measurements agreed in 83% of cases, that there was a change in cardiac output. Conclusions:Transesophageal Doppler is a promising non invasive technique to measure cardiac output in critical care patients. It becomes a valid alternative to the thermodilution technique. This preliminary experience must be confirmed in a larger series.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Débito Cardíaco/fisiologia , Cateterismo de Swan-Ganz , Ecocardiografia Doppler/métodos , Ecocardiografia Transesofagiana/métodos , Termodiluição/métodos , Cuidados Críticos , Ecocardiografia Doppler/normas , Ecocardiografia Transesofagiana/normas , Estudos Prospectivos , Termodiluição/normas
15.
J Clin Periodontol ; 30(9): 761-72, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12956651

RESUMO

This review considers the considerable similarities between periodontal disease and rheumatoid arthritis (RA). While the etiology of these two diseases may differ, the underlying pathogenic mechanisms are remarkably similar and it is possible that individuals manifesting both periodontitis and RA may suffer from a unifying underlying systemic dysregulation of the inflammatory response. In light of these findings, the implications for the use of disease-modifying medications in the management of these two chronic inflammatory conditions is apparent. Further longitudinal studies and medication-based intervention studies are required to determine just how closely these two conditions are allied.


Assuntos
Artrite Reumatoide/etiologia , Periodontite/etiologia , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/imunologia , Progressão da Doença , Humanos , Periodontite/tratamento farmacológico , Periodontite/imunologia
16.
Clin Imaging ; 27(1): 23-6, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12504316

RESUMO

The femoral hypoplasia-unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum. The psychomotor development has been normal. We propose that the CNS defects observed in these patients are part of the spectrum of abnormalities in the FFS.


Assuntos
Anormalidades Múltiplas/diagnóstico , Face/anormalidades , Fêmur/anormalidades , Malformações do Sistema Nervoso/diagnóstico , Gravidez em Diabéticas , Anormalidades Múltiplas/genética , Pé Torto Equinovaro/diagnóstico , Face/embriologia , Feminino , Fêmur/embriologia , Seguimentos , Humanos , Lactente , Gravidez , Diagnóstico Pré-Natal , Medição de Risco , Síndrome , Tomografia Computadorizada por Raios X
17.
Eur J Hum Genet ; 10(11): 773-81, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12404112

RESUMO

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.


Assuntos
Coreia/genética , Mutação , Polimorfismo Genético , Proteínas/genética , Análise Mutacional de DNA , Éxons/genética , Humanos , Proteínas de Transporte Vesicular
18.
Rev. neurol. (Ed. impr.) ; 33(10): 973-979, 16 nov., 2001.
Artigo em Es | IBECS | ID: ibc-27279

RESUMO

Introducción. El tradicional modelo circumplejo sobre la estructura de la emoción postula que ésta se organiza en torno a dos dimensiones básicas: la valencia (positivo-negativo) y la activación (relajante-activador). Este modelo asume que la valencia activa un único sistema evaluativo, de lo que se derivan, en relación con la actividad cerebral, dos supuestos: 1. Un único conjunto de mecanismos y circuitos neurales se activaría en respuesta tanto a eventos positivos como a eventos negativos, y 2. La capacidad de respuesta a estímulos aversivos y apetitivos (latencia e intensidad con que las estructuras neurales implicadas pueden responder) sería potencialmente equilibrada. Desarrollo. Se describen los recientes debates en torno a ambos supuestos, dándose posteriormente a conocer los datos existentes hasta el momento. Tales datos indican que, en respuesta a estímulos aversivos (con frecuencia dañinos), se activan fundamentalmente sistemas neurales caracterizados por su capacidad para propiciar una respuesta urgente, tratándose además de una activación de corta latencia. Por el contrario, los estímulos apetitivos (que propician conductas de aproximación) activan preferentemente sistemas encargados de un procesamiento más intenso y preciso de la información, tratándose de una activación más lenta aunque más duradera. Conclusión. Los datos sugieren la existencia de mecanismos separados para la evaluación y preparación de respuesta en relación con la negatividad de la estimulación, por una parte, y en relación con la positividad, por otra (AU)


Assuntos
Humanos , Vias Visuais , Atenção , Afeto , Tonsila do Cerebelo , Potenciais Evocados Visuais , Telencéfalo , Lateralidade Funcional
19.
Phytochemistry ; 58(1): 117-20, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11524120

RESUMO

Fourteen species of the genus Echium (Fam. Boraginaceae) collected in the Macaronesia were surveyed in a search for high levels of gamma-linolenic acid (GLA, 18:3omega6) in the seed oil. High amounts of this fatty acid were found in all of them, ranging from 18.85% (E. pitardii var. pitardii) to 27.42% (E. gentianoides) on total seed fatty acids. The GLA content related to total seed weight was also significant, ranging from 1.26% (E. handiense) to 8.22% (E. gentianoides). In addition, considerable amounts of stearidonic acid (SA, 18:4omega3) were detected, ranging from 3.78% (E. bonnetii var. bonnetii) to 8.81% (E. pininana) on total fatty acids. Besides all the perennial species, the four herbaceous Echium taxa endemic to the Macaronesia also showed high GLA percentages. This is in contrast to the low GLA level found in continental Echium species, all of them bearing an herbaceous habit. These results are in good agreement with the available genetic data and show the ability of GLA to discriminate between Macaronesian and continental Echium species. The analysis of five other Macaronesian species belonging to plant families rich in GLA are also reported.


Assuntos
Boraginaceae/classificação , Óleos de Plantas/química , Sementes/química , Ácido gama-Linolênico/análise , Ácidos Graxos/análise , Especificidade da Espécie , Terminologia como Assunto
20.
J Periodontol ; 72(6): 779-87, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11453241

RESUMO

BACKGROUND: Because of several similar features in the pathobiology of periodontitis and rheumatoid arthritis, in a previous study we proposed a possible relationship between the two diseases. Therefore, the aims of this study were to study a population of rheumatoid arthritis patients and determine the extent of their periodontal disease and correlate this with various indicators of rheumatoid arthritis. METHODS: Sixty-five consecutive patients attending a rheumatology clinic were examined for their levels of periodontitis and rheumatoid arthritis. A control group consisted of age- and gender-matched individuals without rheumatoid arthritis. Specific measures for periodontitis included probing depths, attachment loss, bleeding scores, plaque scores, and radiographic bone loss scores. Measures of rheumatoid arthritis included tender joint analysis, swollen joint analysis, pain index, physician's global assessment on a visual analogue scale, health assessment questionnaire, levels of C-reactive protein, and erythrocyte sedimentation rate. The relationship between periodontal bone loss and rheumatological findings as well as the relationship between bone loss in the rheumatoid arthritis and control groups were analyzed. RESULTS: No differences were noted for the plaque and bleeding indices between the control and rheumatoid arthritis groups. The rheumatoid arthritis group did, however, have more missing teeth than the control group and a higher percentage of these subjects had deeper pocketing. When the percentage of bone loss was compared with various indicators of rheumatoid arthritis disease activity, it was found that swollen joints, health assessment questionnaire scores, levels of C-reactive protein, and erythrocyte sedimentation rate were the principal parameters which could be associated with periodontal bone loss. CONCLUSIONS: The results of this study provide further evidence of a significant association between periodontitis and rheumatoid arthritis. This association may be a reflection of a common underlying disregulation of the inflammatory response in these individuals.


Assuntos
Artrite Reumatoide/fisiopatologia , Periodontite/fisiopatologia , Perda do Osso Alveolar/classificação , Perda do Osso Alveolar/diagnóstico por imagem , Perda do Osso Alveolar/fisiopatologia , Artrite Reumatoide/sangue , Artrite Reumatoide/classificação , Biologia , Sedimentação Sanguínea , Proteína C-Reativa/análise , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Estudos de Coortes , Placa Dentária/fisiopatologia , Índice de Placa Dentária , Feminino , Hemorragia Gengival/classificação , Hemorragia Gengival/fisiopatologia , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Medição da Dor , Perda da Inserção Periodontal/classificação , Perda da Inserção Periodontal/fisiopatologia , Índice Periodontal , Bolsa Periodontal/classificação , Bolsa Periodontal/fisiopatologia , Periodontite/classificação , Radiografia , Perda de Dente/classificação , Perda de Dente/fisiopatologia
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