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1.
Dev Med Child Neurol ; 47(3): 177-84, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15739722

RESUMO

The purpose of this study was to investigate cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome. Thirty-three children (15 females, 18 males; age range 3 to 19y, median 7y 6mo) with 22q11 deletion were investigated for growth, development, neurology, cognition, motor function, and participation (measured as handicap**). Half of the children had never crawled, although they had shuffled, and commencement of walking was delayed (mean 18mo, SD 6mo). Hypotonia was found in 25 and poor balance in 24 of the 33 children; 17 out of 27 had definite motor problems, including two with spastic hemiplegia. Intelligence quotient (IQ) range was 50 to 100. Eleven patients had an IQ below 70, and 15 between 70 and 84. Verbal IQ was higher than Performance IQ. Level of handicap within the study group was considered moderate, and all but one child had extra support at school. We conclude that children with 22q11 deletion syndrome have multiple neurological, motor, and cognitive problems. Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 22/genética , Deficiências do Desenvolvimento/genética , Adolescente , Criança , Pré-Escolar , Transtornos Cromossômicos/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Avaliação da Deficiência , Educação Inclusiva , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Exame Neurológico , Testes Neuropsicológicos , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genética , Síndrome
2.
Eur J Pain ; 5(2): 199-207, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11465985

RESUMO

Systemic adenosine has been shown in earlier case reports and a small placebo-controlled study to reduce pathological sensory dysfunction such as tactile allodynia in neuropathic pain. To evaluate this further, the effects of systemic adenosine infusion (50 microg/kg/min for 60 min) on tactile sensory dysfunction and pain was evaluated in 26 patients suffering peripheral neuropathic pain characterized by dynamic tactile allodynia. A randomized, cross-over, double-blind, placebo-controlled technique was used in this multi-centre study. Psychophysical methods were used to evaluate sensory dysfunction and spontaneous pain. The area of dynamic tactile allodynia was significantly reduced by adenosine compared with placebo (p=0.043), but spontaneous pain and tactile pain threshold were not significantly improved compared with the effects of placebo treatment. As a secondary outcome, a higher incidence of positive subjective effects on the clinical pain condition, in a few cases with long duration (several months), following adenosine treatment was found when the global effect of respective treatment was assessed (p=0.028). The results demonstrate involvement of adenosine receptor-sensitive pain mechanisms in some aspects of the sensory dysfunction often found in neuropathic pain.


Assuntos
Adenosina/administração & dosagem , Analgésicos/administração & dosagem , Hiperalgesia/tratamento farmacológico , Neuralgia/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Placebos , Resultado do Tratamento
3.
Lakartidningen ; 96(44): 4789-93, 1999 Nov 03.
Artigo em Sueco | MEDLINE | ID: mdl-10584540

RESUMO

Patients with CATCH 22 or 22q11 deletion syndrome constitute a fast growing category in Sweden as it is still underdiagnosed. In a series of 54 patients the predominant features were found to be speech and language difficulties, cardiac malformations, susceptibility to infection, learning and behavioural problems, hypoparathyroidism, minor motor deficits, and characteristic facies. The severity of these problems varied individually, but as the patients had numerous symptoms and disabilities the overall degree of handicap was considerable. Thus, regular evaluation of the patient's condition and overall need of care is important.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Adolescente , Criança , Pré-Escolar , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Face/anormalidades , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/genética , Hibridização in Situ Fluorescente , Masculino , Síndrome
4.
Anesth Analg ; 89(1): 136-42, 1999 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10389791

RESUMO

UNLABELLED: Adenosine and adenosine analogs decrease pain-like behavior in animal models of both acute nociceptive and neuropathic pain via adenosine receptor activation at spinal and/or supraspinal levels. This open study is the first in a series of intrathecal (IT) adenosine administration studied for the evaluation of efficacy and side effects in 14 patients. All had chronic neuropathic pain with tactile hyperalgesia and/or allodynia primarily of traumatic origin. The effects of IT adenosine (500 microg [n = 9] or 1000 microg [n = 5]) were evaluated. Approximate areas of tactile pain were mapped. Spontaneous and evoked pain (visual analog scale score 0-100) and tactile pain thresholds were assessed before and 60 min after injection. The injection caused transient pain (<60 min) in the lumbar region in five patients. There were no other side effects. Spontaneous and evoked pain was reduced (median score from 65 to 24 [P<0.01] and from 71 to 12 [P<0.01], respectively) in parallel with increased tactile pain thresholds in allodynic areas. Areas of tactile hyperalgesia/allodynia were reduced (median reduction 90%; P<0.001). Twelve patients experienced pain relief (median 24 h). We conclude that IT adenosine transiently causes lumbar pain in a subgroup of patients and may reduce various aspects of chronic neuropathic pain. IMPLICATIONS: This is the first series of patients with chronic neuropathic pain in which tolerability to spinal adenosine administration has been evaluated. A subset of patients reported transient low back pain as the only side effect. Spontaneous and evoked pain intensity decreased in most patients, an effect lasting for a median of 24 h.


Assuntos
Adenosina/uso terapêutico , Dor/tratamento farmacológico , Adenosina/administração & dosagem , Adenosina/efeitos adversos , Adulto , Doença Crônica , Feminino , Humanos , Injeções Espinhais , Masculino , Pessoa de Meia-Idade
6.
Anesth Analg ; 81(4): 713-7, 1995 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-7573999

RESUMO

In seven patients with peripheral neuropathic pain, the effect of systemic adenosine infusion on pain symptoms was evaluated in a double-blind, placebo controlled, cross-over study. The study infusions, adenosine (50 micrograms.kg-1.min-1) or placebo, were given intravenously (IV) during 45-60 min at two separate occasions. Before and during infusions, bedside examination of sensibility and quantitative sensory testing (QST), i.e., assessments of perception thresholds for touch, touch-evoked pain, cold, warmth, painful heat, and cold, were performed. In the neuropathic area, sensation magnitude was rated by a visual analog scale (100 mm VAS) using a pin and at perception threshold for touch-evoked pain using von Frey filaments. Adenosine infusion reduced spontaneous pain (P < 0.05), and caused an increase of the touch-evoked pain threshold from 10.8 +/- 5.3 to 22.2 +/- 6.9 g (P < 0.05), whereas placebo had no effect. Pain intensity at perception threshold for touch-evoked pain was, however, unaltered. Pinprick-evoked pain in the neuropathic areas was reduced from 53 +/- 11 to 29 +/- 10 mm (P < 0.05). No other sensory modality was consistently changed during adenosine infusion. In conclusion, the present study demonstrates that adenosine infusion alleviates spontaneous neuropathic pain, tactile allodynia, and pinprick hyperalgesia in patients with peripheral neuropathic disorders, probably by a central mechanism of action.


Assuntos
Adenosina/administração & dosagem , Analgésicos/administração & dosagem , Neuralgia/tratamento farmacológico , Adulto , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Infusões Intravenosas , Pessoa de Meia-Idade , Neuralgia/etiologia , Neuralgia/fisiopatologia , Medição da Dor , Limiar da Dor/efeitos dos fármacos , Limiar Sensorial/efeitos dos fármacos
7.
Neurosci Lett ; 192(2): 93-6, 1995 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-7675329

RESUMO

The effect of unilateral, experimentally induced, mononeuropathy on concentrations of neuropeptide Y (NPY), neurokinin A (NKA), substance P (SP), calcitonin gene-related peptide CGRP) and galanin- (GAL-) like immunoreactivities (-LI) was studied in Wistar Kyoto (WKY) and spontaneously hypertensive (SHR) rat brains. Two weeks following ligation of the sciatic nerve, significantly higher concentrations of NPY-LI were found in the hippocampus, striatum and occipital cortex of both rat strains. CGRP-LI and GAL-LI were increased in the hippocampus of WKY rats. NKA-LI and SP-LI were decreased to different degrees in the pituitary of the WKY and SHR rats, indicating that the changes of the tachykinins, CGRP and GAL were selectively associated with the basal level of sympathetic tone. The increased concentrations of NPY-LI in the brain, not influenced by sympathetic tone, may be part of a general defense reaction in response to trauma.


Assuntos
Encéfalo/metabolismo , Neuropeptídeos/metabolismo , Nervo Isquiático , Animais , Peptídeo Relacionado com Gene de Calcitonina/metabolismo , Masculino , Neuropeptídeo Y/metabolismo , Concentração Osmolar , Doenças do Sistema Nervoso Periférico/metabolismo , Ratos , Ratos Endogâmicos SHR , Ratos Endogâmicos WKY , Taquicininas/metabolismo , Distribuição Tecidual
8.
Neuroreport ; 6(5): 753-6, 1995 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-7605941

RESUMO

The effect of adenosine on tactile allodynia (secondary hyperalgesia) was studied in 6 healthy volunteers, using a double-blind, placebo controlled, cross-over design. Tactile allodynia was induced by topical application of mustard oil on the skin of the volar aspect of the forearm. Adenosine (50 micrograms kg-1 min-1) or saline was given intravenously for 20 min before the mustard oil application and continued for another 50 min. The tactile allodynic areas for brush and von Frey filament stimulation were both significantly reduced by approximately 50% during adenosine infusion, compared with placebo. The threshold for eliciting allodynia with von Frey filaments was not influenced by adenosine. The study shows that adenosine can reduce the area of mustard oil induced tactile allodynia.


Assuntos
Adenosina/farmacologia , Hiperalgesia/tratamento farmacológico , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Hiperalgesia/induzido quimicamente , Infusões Intravenosas , Masculino , Mostardeira , Extratos Vegetais , Óleos de Plantas , Plantas Medicinais , Tato
9.
Biol Psychiatry ; 33(10): 734-43, 1993 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-8353169

RESUMO

The cerebrospinal fluid (CSF) of 47 children and adolescents with autism was analyzed for the contents of two astroglial proteins, the glial fibrillary acidic protein (GFA) and S 100. The results were contrasted with those obtained in similarly aged cases with other neuropsychiatric disorders (n = 25) and in normal children (n = 10). S-100 did not discriminate the groups from each other. However, GFA in autism and autistic-like conditions was at a level almost three times that in the normal group. The results could implicate gliosis and unspecific brain damage in autism. An alternative model would be increased synapse turnover regardless of underlying cause.


Assuntos
Transtorno Autístico/líquido cefalorraquidiano , Dano Encefálico Crônico/líquido cefalorraquidiano , Proteína Glial Fibrilar Ácida/líquido cefalorraquidiano , Transtornos Neurocognitivos/líquido cefalorraquidiano , Adolescente , Transtorno Autístico/diagnóstico , Transtorno Autístico/psicologia , Doenças dos Gânglios da Base/líquido cefalorraquidiano , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/psicologia , Dano Encefálico Crônico/diagnóstico , Dano Encefálico Crônico/psicologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Transtornos do Desenvolvimento da Linguagem/líquido cefalorraquidiano , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/psicologia , Masculino , Transtornos Neurocognitivos/diagnóstico , Transtornos Neurocognitivos/psicologia , Fosfopiruvato Hidratase/líquido cefalorraquidiano , Valores de Referência , Síndrome de Rett/líquido cefalorraquidiano , Síndrome de Rett/diagnóstico , Síndrome de Rett/psicologia , Proteínas S100/líquido cefalorraquidiano
10.
J Neurosci Methods ; 44(2-3): 113-9, 1992 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-1474847

RESUMO

In the present study we describe a sensitive ELISA for determination of glial fibrillary acidic protein (GFAP). To validate the method combined determinations of GFAP and S-100 protein were performed in cerebrospinal fluid (CSF) of normal children and children with autism. The GFAP ELISA is of sandwich type and uses the biotin-avidin system. Sensitivity was 16 pg/ml. Between-day precision was 0.079 (coeff. of variance). S-100 protein concentrations were measured using a commercially available ELISA kit. Normal CSF from children and young adults were analysed. The CSF levels of GFAP in normal children were low (16-163 pg/ml). Both GFAP and S-100 protein concentrations correlated with age (P < 0.01 and P < 0.05, respectively), but the GFAP increment was more pronounced, probably reflecting the age-dependent expansion of the fibrillary astrocytes in the central nervous system (CNS). GFAP levels in children with infantile autism were higher than those in normal children of the same age range. S-100 protein concentrations were similar in both groups. High levels of GFAP in combination with normal S-100 protein concentrations in CSF indicates reactive astrogliosis in the CNS. In conclusion, the sensitive ELISA described makes it possible to measure low levels of GFAP present in the CSF of children. Combined assays of GFAP and S-100 protein can be used to discriminate between acute and chronic brain disorders in children.


Assuntos
Proteína Glial Fibrilar Ácida/líquido cefalorraquidiano , Adolescente , Adulto , Envelhecimento/metabolismo , Transtorno Autístico/líquido cefalorraquidiano , Criança , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Lactente , Masculino , Proteínas S100/líquido cefalorraquidiano
11.
Metabolism ; 40(3): 315-22, 1991 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-2000045

RESUMO

Healthy male volunteers (n = 12) were given a normocaloric hyponitrogenous diet for a conditioning period of 7 days. Thereafter they were blindly randomized to receive daily injections of methionyl recombinant human growth hormone (met-hGH) 0.06 IU/kg or saline during a second week of hyponitrogenous nutrition. The met-hGH group showed a lower urinary urea excretion and a lower serum concentration of urea as compared with the control group. In skeletal muscle, the polyribosome concentration, indicative of muscle protein synthesis, as well as the concentrations of glutamine, alanine, aspartate, serine, and threonine, decreased in the control group, whereas no such changes were seen in the met-hGH-treated group. Since provision of met-hGH prevented protein catabolism in muscle and improved whole body nitrogen economy, investigations of the possible beneficial effects of met-hGH to prevent skeletal muscle vast after surgical trauma are advocated.


Assuntos
Dieta , Hormônio do Crescimento/farmacologia , Proteínas Musculares/metabolismo , Nitrogênio/metabolismo , Aminoácidos/sangue , Aminoácidos/metabolismo , Sangue/metabolismo , Hormônio do Crescimento/análogos & derivados , Hormônio do Crescimento Humano , Humanos , Masculino , Músculos/metabolismo , Nitrogênio/administração & dosagem , Proteínas Recombinantes , Ribossomos/metabolismo , Urina/química
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