RESUMO
Two related girls had the onset of unilateral leg dystonia in the neonatal period and at 13 months, respectively. The dystonic signs subsided with motor development and resolved completely in one of the girls by the age of 5 years. There was no response to L-dopa. From 2-3 years of age segmental myoclonus with a shoulder girdle distribution appeared. Family investigation results were compatible with autosomal dominant myoclonic dystonia responsive to alcohol. The onset and resolution of dystonia have not been described previously. This disorder is genetically separate from torsion dystonia. No linkage has been found to the dopamine beta-hydroxylase gene locus. Genetically determined disorders of neurotransmission may add to our knowledge of the normal development of motor control and thus merit further study.
Assuntos
Desenvolvimento Infantil , Distonia/genética , Distonia/fisiopatologia , Perna (Membro) , Idade de Início , Feminino , Genes Dominantes , Humanos , Lactente , Mioclonia/genética , Mioclonia/fisiopatologia , OmbroRESUMO
In this paper the determination of bromine as represented in the literature is briefly reviewed with the matrix and background effects being considered. The results obtained in determining low contents of bromine in pharmaceutical substances of light matrix (Z less than or equal to 8) by the use of a wavelength dispersive X-ray fluorescence spectrometer VRA-20 have shown the sample thickness to influence the Br-Ka radiation. The calibration of a chloroorganic matrix is performed with a so-called substitute standard substance consisting of cellulose and ammonium chloride, which is advantageous, if standard material free of analyte is difficult to get or only small amounts of sample are available. Additional measurements have been carried out to determine chlorine also by the use of a vacuum-tight liquid cell. Detection limits of 3 ppm Br (10 ppm Cl) in a light matrix and of 60 ppm Br in a chloroorganic matrix can be obtained without analyte enrichment by the powder-compressing process. The present possibilities of measuring the F-Ka radiation in active pharmaceutic substances are discussed.
Assuntos
Bromo/análise , Cloro/análise , Flúor/análise , Preparações Farmacêuticas/síntese química , Celulose/análise , Excipientes/análise , Espectrometria por Raios X , Enxofre/análiseAssuntos
Serviços de Saúde da Criança , Deficiências do Desenvolvimento , Pessoas com Deficiência , Deficiência Intelectual , Pais/psicologia , Relações Profissional-Família , Adolescente , Criança , Serviços de Saúde da Criança/organização & administração , Serviços de Saúde da Criança/normas , Pré-Escolar , Comunicação , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/psicologia , Deficiências do Desenvolvimento/reabilitação , Pessoas com Deficiência/psicologia , Pessoas com Deficiência/reabilitação , Feminino , Humanos , Lactente , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/psicologia , Deficiência Intelectual/reabilitação , Masculino , Inquéritos e Questionários , Suécia/epidemiologiaAssuntos
Paralisia Cerebral/genética , Adolescente , Adulto , Ataxia/congênito , Paralisia Cerebral/epidemiologia , Paralisia Cerebral/etiologia , Criança , Pré-Escolar , Feminino , Genes Recessivos , Humanos , Deficiência Intelectual/etiologia , Masculino , Microcefalia/genética , Linhagem , Quadriplegia/genética , SuéciaRESUMO
The article reviews the collected knowledge concerning the non-progressive syndromes of ataxic cerebral palsy. Three syndromes are described: (1) simple ataxia (signs of dyssynergia); (2) ataxic diplegia (ataxia with added diplegic spasticity); and (3) dysequilibrium syndrome (defective postural control and equilibrium). The probable aetiological factors in each syndrome are discussed. In simple ataxia prenatal factors dominate; a high proportion of cases have an untraceable aetiology. Genetic factors play a large rôle, and birthweight is usually normal. With ataxic diplegia the aetiology is again most commonly prenatal, but the proportion of cases with an untraceable aetiology is low. Fetal deprivation of supply and perinatal factors, either isolated or in combination, are important. Low birthweight is frequently found. Genetic aetiological factors are the rule in the dysequilibrium syndrome. Possible preventive measures are discussed on the basis of the aetiological pattern. It is concluded that the possibilities of prevention are greatest in ataxic diplegia.
Assuntos
Ataxia/etiologia , Paralisia Cerebral/etiologia , Asfixia Neonatal/complicações , Ataxia/genética , Ataxia/prevenção & controle , Traumatismos do Nascimento/complicações , Cerebelo/anormalidades , Cerebelo/lesões , Paralisia Cerebral/genética , Paralisia Cerebral/prevenção & controle , Doenças Transmissíveis/complicações , Hipotireoidismo Congênito , Feminino , Doenças Fetais/complicações , Humanos , Hidrocefalia/complicações , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Equilíbrio Postural , Gravidez , Complicações na Gravidez , SíndromeRESUMO
Benign paroxysmal torticollis is a condition characterized by attacks of head-tilting often accompanied by lateral curvature of the trunc. The first onset of these attacks usually occurs during the first months of life and they recur with a remarkable periodicity for 6--12 months after which time they gradually subside in intensity and frequency. As a rule the attacks have ceased completely before the age of 2 years but in some cases they continue in a modified form as attacks of ataxia. The aetiology is unknown and there is no evidence of bilateral peripheral vestibular disturbances as has been suggested in earlier reports. The ataxia seen in some cases rather suggests a dysfunction of the cerebellum or of the vestibulo-cerebellar connections. Four own patients with this syndrome are presented and discussed.
Assuntos
Torcicolo , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Exame Neurológico , Periodicidade , Torcicolo/diagnóstico , Torcicolo/etiologia , Testes de Função VestibularRESUMO
A previously undescribed form of complicated hereditary spastic paraplegia with epileptic myoclonus in four affected offspring of consanguineous parents is reported. The disorder was inherited as an autosomal recessive trait. Age at onset varied from the prenatal period to 10 years. The main findings when examined between 26 and 42 years of age were spastic paraplegia, epileptic myoclonus, distal muscle atrophy, mental retardation or dullness, ataxia, hearing loss and a progressive course. The difference in phenotypic expression was striking. One woman had progressive epileptic myoclonus, ataxia and only slight distal wasting and could have been misdiagnosed as a case of Unverricht-Lundborg's disease. Thorough biochemical investigations revealed no cause of the disorder.
Assuntos
Epilepsias Mioclônicas/genética , Paraplegia Espástica Hereditária/genética , Adulto , Consanguinidade , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Marcha , Humanos , Masculino , Exame Neurológico , Paraplegia Espástica Hereditária/diagnósticoRESUMO
BACKGROUND: The early detection of effects caused by radiotherapy on bone mineralisation has influence on clinical treatment. Usually the follow-up is done by conventional X-rays, presenting a loss of calcification of at least 30%. Quantitative CT-measurements are much more sensitive. PATIENTS AND METHODS: In a prospective study we evaluated the CT-scans of 14 patients with multiple vertebral metastases of mamma carcinoma. Our patients underwent SEQCT (one 10 mm slice in each affected vertebral body, 80 kV, 250 mAs) before and immediately after radiation therapy (total dose 30 Gy to 36 Gy) followed by further examinations 6 weeks and 3 months later. RESULTS: While there is no significant change in increased BMD (bone mineral density) of osteosclerotic and decreased BMD of osteolytic metastases just after therapy, the following examinations present an increase of BMD in osteolytic metastases 6 weeks after therapy more distinct 3 months after. Osteosclerotic metastases show a decline in bone density. In mixed metastases is no significant change while normal bone lying in the irradiation field demineralizes. Additive chemotherapy is very important especially for mineralisation of lytic metastases. Referring to mixed metastasis in one vertebral body we suggest a separate evaluation of the left and right side. CONCLUSION: Mineralizing effects of radiation therapy depend on the characteristics of the metastases. Supported by QCT histopathological change can be documented and exactly demonstrated to the clinician.
Assuntos
Densidade Óssea/efeitos da radiação , Neoplasias da Mama/radioterapia , Carcinoma/radioterapia , Vértebras Lombares , Neoplasias da Coluna Vertebral/radioterapia , Neoplasias da Coluna Vertebral/secundário , Vértebras Torácicas , Adulto , Idoso , Neoplasias da Mama/diagnóstico por imagem , Carcinoma/diagnóstico por imagem , Quimioterapia Adjuvante , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Pessoa de Meia-Idade , Osteólise/diagnóstico por imagem , Osteólise/etiologia , Osteólise/radioterapia , Dosagem Radioterapêutica , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Fatores de Tempo , Tomografia Computadorizada por Raios XRESUMO
The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural and motor ability were considered to have improved in 4 of the 5 boys but not in the 4 adults with fragile X syndrome.
Assuntos
Ácido Fólico/uso terapêutico , Síndrome do Cromossomo X Frágil/tratamento farmacológico , Aberrações dos Cromossomos Sexuais/tratamento farmacológico , Adolescente , Comportamento/efeitos dos fármacos , Criança , Pré-Escolar , Fragilidade Cromossômica , Síndrome do Cromossomo X Frágil/psicologia , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de TempoRESUMO
Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.
Assuntos
Consumo de Bebidas Alcoólicas/genética , Distonia/genética , Genes Dominantes/genética , Variação Genética/genética , Mioclonia/genética , Fenótipo , Adolescente , Adulto , Idoso , Alcoolismo/genética , Criança , Pré-Escolar , Distonia/tratamento farmacológico , Etanol/administração & dosagem , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mioclonia/tratamento farmacológico , Exame Neurológico , LinhagemRESUMO
We have shown that it is possible to screen for penicillinase-producing Neisseria gonorrhoeae directly from primary culture plates. Experiments involving the cocultivation of four genera of beta-lactamase-positive (beta-lac(+)) bacteria and a beta-lactamase-negative (beta-lac(-)) N. gonorrhoeae on modified Thayer-Martin medium indicated that suppressed or inhibited beta-lac(+) bacteria did not give false-positive results when isolated beta-lac(-) colonies of gonococci were tested. Colonies were assayed for beta-lac production by an adaptation of a microacidometric method in which bacteria could be tested before or after the addition of oxidase reagent.
Assuntos
Neisseria gonorrhoeae/isolamento & purificação , Penicilinase/biossíntese , Técnicas Bacteriológicas , Neisseria gonorrhoeae/enzimologiaRESUMO
The case reports of two Swedish girls with initially pseudostationary clinical pictures, one simulating ataxic and the other dyskinetic cerebral palsy, are presented. It was eventually revealed that they had a slowly progressive encephalopathy with pronounced gross motor disability and signs of severe dyskinesia, but only mild intellectual delay. Electron microscopy of skin biopsies showed a picture identical to that in Salla disease. They had a moderately increased 5-10 fold urinary free sialic acid excretion, increased sialidase activity in lymphocytes but normal activity in cultured fibroblasts. These two Swedish cases represent variants of Salla disease, a group of conditions with probable genetic heterogeneity.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Neuraminidase/metabolismo , Transtornos Psicomotores/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/enzimologia , Feminino , Finlândia , Seguimentos , Humanos , Lactente , Lisossomos/enzimologia , Lisossomos/ultraestrutura , Masculino , Microscopia Eletrônica , Pele/enzimologia , Pele/inervação , Pele/ultraestrutura , Suécia/etnologiaRESUMO
A gene (DYT1) for susceptibility to early-onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32-q34 in a 6-7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < -2.00 from a two-point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.
Assuntos
Cromossomos Humanos Par 9 , Distonia Muscular Deformante/genética , Epilepsias Mioclônicas/genética , Álcoois/uso terapêutico , Epilepsias Mioclônicas/tratamento farmacológico , Feminino , Ligação Genética , Humanos , Masculino , LinhagemRESUMO
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.
Assuntos
Cromossomos Humanos Par 7/genética , Distonia/genética , Ligação Genética/genética , Mioclonia/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 11/genética , Éxons/genética , Feminino , Marcadores Genéticos/genética , Humanos , Escore Lod , Masculino , Linhagem , Receptores de Dopamina D2/genética , Recombinação Genética/genética , SoftwareRESUMO
A novel Val154-->Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal transduction assays of the DRD2 mutant and wild-type receptors revealed identical agonist and antagonist affinities and functional responses. These studies suggest that M-D is genetically heterogeneous. The molecular mechanisms through which the Val-->Ile mutation may contribute to M-D remain to be determined.