RESUMO
Polymorphisms in the CTLA-4 gene are known to be important in several autoimmune diseases, including multiple sclerosis (MS). Previous studies on the impact of CTLA-4 +49 A/G gene polymorphism have given contradictory results. We investigated the possible influence of this polymorphism on MS susceptibility and disease behaviour in Croatian and Slovenian populations. Genotyping was performed in 367 patients with MS and 480 control subjects using PCR-RFLP method. The G allele was present in 216 (58.9%) patients with MS vs. 282 (58.7%) healthy controls (P = 0.975, OR = 1.01, 95% CI = 0.76-1.32). No significant differences were observed in CTLA-4 +49 A or G allele distribution between patients and controls, indicating that this polymorphism does not influence susceptibility to MS in the surveyed populations. No correlation was observed between G allele carrier status and age at disease onset, disease course or severity.
Assuntos
Antígeno CTLA-4/genética , Predisposição Genética para Doença , Esclerose Múltipla/genética , Polimorfismo de Nucleotídeo Único , Adulto , Alelos , Croácia/epidemiologia , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Eslovênia/epidemiologiaRESUMO
We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.
Assuntos
Alopecia/genética , Arritmias Cardíacas/genética , Aberrações Cromossômicas , Diabetes Mellitus Tipo 1/genética , Genes Recessivos/genética , Perda Auditiva Neurossensorial/genética , Hipogonadismo/genética , Deficiência Intelectual/genética , Alopecia/diagnóstico , Arritmias Cardíacas/diagnóstico , Atrofia , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/genética , Encéfalo/patologia , Calcinose/diagnóstico , Calcinose/genética , Consanguinidade , Contratura/diagnóstico , Contratura/genética , Croácia , Diabetes Mellitus Tipo 1/diagnóstico , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Hipogonadismo/diagnóstico , Hipotireoidismo/diagnóstico , Hipotireoidismo/genética , Deficiência Intelectual/diagnóstico , Cariotipagem , Pessoa de Meia-Idade , Limitação da Mobilidade , Debilidade Muscular/diagnóstico , Debilidade Muscular/genética , Síndrome , Tomografia Computadorizada por Raios XRESUMO
The expression of perforin (P) in subpopulations of the PBL of multiple sclerosis (MS) patients in stable and active phase of disease was investigated, by simultaneous detection of P (intracellular molecule) and cell surface antigens. A significant increase of CD4+P+ (p < 0.02) and CD16+P+ (p < 0.001), and decrease of CD56+P+ (p < 0.05) cells in active MS was found. In active disease there is a highly significant increase (p < 0.001) of average fluorescence intensity (AFI) for P in CD4(dim+) cells, and these cells are larger in size and have higher granularity (p < 0.05) compared to CD4(bright+) p(dim+) cells. Surprisingly, there were no CD25+P+ cells in either group of MS patients. These results show that CD4+P+ cells are upregulated in active disease in cell number, in the level of P expression per cell, and in the level of cell activation (increase in cell size and granularity). It is suggested that CD4+P+ cytotoxic cells may play a role in the pathogenetic mechanisms of MS.
Assuntos
Células Sanguíneas/metabolismo , Linfócitos/metabolismo , Glicoproteínas de Membrana/sangue , Esclerose Múltipla/sangue , Esclerose Múltipla/fisiopatologia , Adulto , Antígenos CD/análise , Células Sanguíneas/imunologia , Membrana Celular/imunologia , Feminino , Humanos , Linfócitos/imunologia , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/imunologia , Perforina , Fenótipo , Proteínas Citotóxicas Formadoras de PorosRESUMO
A case of apperceptive visual agnosia, revealing difficulties only in the performance on a standard overlapping-figures test, has been studied. Unusually, the patient demonstrated difficulties only with two semantic categories of the overlapped figures (clothes and school accessories); preserving, however, the knowledge of the same figures when presented isolated. We propose that the underlying deficit is only of a pseudo-semantic nature and is actually due to certain similarities of the two overlapping combinations, creating difficulties still on the apperception level only.
Assuntos
Agnosia/fisiopatologia , Semântica , Percepção Visual/fisiologia , Feminino , Humanos , Testes de Inteligência , Pessoa de Meia-Idade , Testes NeuropsicológicosRESUMO
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder. The mutations of Cu/Zn superoxide dismutase gene (SOD1) are responsible for familial ALS. We investigated a large family of Istro-Rumanian origin characterized by an autosomal dominant ALS occurring in 18 cases (three of which are still alive) throughout six generations. METHODS: Clinical data were available for nine patients from the 2nd generation onward, among which one contained the neuropathological details. The mean age at onset of the disease (+/-SD) was 57.3+/-8.9 years (range 49-72), while the duration of the disease spanned over a length of time equal to 4.9+/-1.96 years (range 1.5-7). The analysis of the coding region of SOD1 was done by PCR and direct sequencing. The SOD1 activity was measured by using the red and mononuclear cells belonging to three of the patients. RESULTS: The leu144phe mutation of SOD1 was identified in four patients while a normal sequence was found in five healthy related subjects. The molecular defect was responsible for a decrease in SOD1 activity. Most of patients in this family presented clinical manifestations of ALS (in particular, the lower limb onset variant) not as severe as typical ALS caused by other SOD1 mutations. However, one patient suffering from hyperthyroidism for 17 years, showed an early onset and a rapidly progressing ALS coupled with dementia. CONCLUSIONS: We described a large family with a relatively not severe phenotype of ALS (due to a leu144phe SOD1 mutation) that was compromised in one patient by a concomitant hyperthyroidism.
Assuntos
Substituição de Aminoácidos , Esclerose Lateral Amiotrófica/enzimologia , Esclerose Lateral Amiotrófica/genética , Mutação , Superóxido Dismutase/genética , Idade de Início , Idoso , Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/epidemiologia , Comorbidade , Croácia/epidemiologia , Análise Mutacional de DNA , Progressão da Doença , Ativação Enzimática/genética , Família , Feminino , Genes Dominantes , Testes Genéticos , Humanos , Hipertireoidismo/diagnóstico , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Linhagem , Fenótipo , Romênia/etnologia , Superóxido Dismutase-1RESUMO
Contralateral neglect is a frequent clinical syndrome which can be provoked by lesions in several brain areas (primarily inferior parietal and frontal) and includes symptoms of motor and perceptual negligence of both real and imaginative contralateral hemi-space. Attentional and representative theories attempting to explain neglect are presently the most popular. This paper analyzes two cases of neglect patients. Paying attention especially to their reading defects, a possible role of the persons with contralateral neglect is proposed in the development of script. Other neurobiological and cultural-anthropological questions arising from the analysis of these cases are also discussed.
Assuntos
Agnosia , Lateralidade Funcional , Idoso , Antropologia Cultural , Infarto Cerebral/complicações , Feminino , Hemiplegia/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Leitura , SíndromeRESUMO
The aim of the study was to examine frequencies of HLA-A, -B, -DR antigens and haplotypes in population of Rijeka and to compare them with general Croatian and European populations. The subjects were 117 unrelated healthy blood donors. The antigens with the highest frequencies were: A2 (27.2%), A9 (16.3%), B5 (14.8%), B12 (11.8%), B18 (11.8%), DR5 (21.6%) and DR6 (13.8%). Comparison of HLA antigens frequencies has shown statistically significant difference in 1 antigen with Croatian population and in 8 antigens with European population. The HLA haplotypes with high frequencies included HLA-A2, B5 (6.84%), HLA-A2, B12 (6.84%), HLA-A2, B18 (6.84%), HLA-B12, DR2 (9.78%) and HLA-B18, DR5 (6.84%). The antigen B5 showed strongest association with DR5 (6.41%; LD = 1.30) as in general Croatian and in some European populations. The results have shown great diversity of HLA haplotypes in Rijeka population which can be the result of admixture with neighborhood immigrating populations during the history.
Assuntos
Genética Populacional , Antígenos HLA/genética , Polimorfismo Genético , Croácia , Europa (Continente) , Feminino , Frequência do Gene , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-DR/genética , Haplótipos , Humanos , MasculinoRESUMO
In a group of 292 patients, clinically definite cases of multiple sclerosis, 91 of them were administered Tetracosactrin (Synacthen Depot) during the initial or exacerbation attack of the disease. Two female patients developed typical anaphylaxis during the drug use: the first patient after the twenty-second injection and the second one after the sixth injection. Negativity of the cutaneous test to zinc oxide in these two female patients, increased IgE immunoglobulin concentration and positive RAST to the drug suggested to the feature of immediate allergy conditioned by reagins.
Assuntos
Anafilaxia/induzido quimicamente , Cosintropina/efeitos adversos , Hipersensibilidade a Drogas , Esclerose Múltipla/tratamento farmacológico , Adulto , Cosintropina/uso terapêutico , Preparações de Ação Retardada , Feminino , HumanosRESUMO
Multiple sclerosis, original primary demyelination in the central nervous system, is a disease of as yet unknown cause. Epidemiologic research may contribute to the clarification of this problem. Migration studies have proven that susceptibility to multiple sclerosis is associated with ethnic origin and environment, and that the critical age for the disease development is till 15 years. In Croatia, emigrating inhabitants of Gorski Kotar, a region with high exposure to this disease, carry the risk of multiple sclerosis development, provided that have emigrated after adolescence.
Assuntos
Emigração e Imigração , Esclerose Múltipla/etnologia , Croácia/epidemiologia , Europa (Continente)/epidemiologia , Humanos , Esclerose Múltipla/epidemiologiaRESUMO
An idea of the experimental and the clinical immunology of epilepsy has been presented in this paper. Experimental investigations suggest that the causality of epilepsy to molecular-immunological level has not been identified. Clinical observations testify the disordered immunologic homeostasis by primary effect of cerebral damage or, more frequently, by secondary expression of long-term anticonvulsant therapy. The behaviour of humoral immunology in chronic epileptic patients indicates the hiperimmune condition of organism; more evident effect of monotherapy by anticonvulsants on the level (rather lowered) of some immunoglobulins; the presence of anti-tissue antibodies in the absence of known autoimmune diseases. Cell immunity shows the tendency of suppression regardless of the form of epilepsy and its treatment.
Assuntos
Epilepsia/imunologia , Autoanticorpos/análise , Humanos , Imunoglobulinas/análiseRESUMO
An injury might derange the protective function of the blood-brain barrier, and thus it represents one of the possible pathogenetic factors in the demyelination of the neural axis. However, the effect of injury on the occurrence or deterioration of multiple sclerosis is still controversial. According to most authors, the importance of injury in individual cases of multiple sclerosis is undeniable, as well as the fact that injuries are factors of progression and deterioration of the disease, but never its cause. Consequently, injuries can cause only temporary disability, and not permanent. Nevertheless, the incidence of multiple sclerosis increases proportionally to the severity of injury. The length of the period from the occurrence of injury to possible demyelination is still not established. Studies and clinical reports point to the fact that in the evaluation of injury as a precipitating factor for the vulnerability of the blood-brain barrier, the severity of the injury is of greater importance than its site.
Assuntos
Esclerose Múltipla/etiologia , Ferimentos e Lesões/complicações , HumanosRESUMO
Almost all the neurological diseases can imitate multiple sclerosis. No strictly specific laboratory test has become as yet available for its diagnosis. Information obtained by clinical examination of the patient--dissemination of different symptoms at the same time and the same symptom in various periods--supplemented by neuroradiological, neurophysiological and biological supplementary tests allow making diagnosis of multiple sclerosis with about hundred percent certainty.
Assuntos
Esclerose Múltipla/diagnóstico , HumanosRESUMO
A patient, young fisherman, with a locked-in syndrome is reported, in whom intact consciousness, quadriplegia of spastic type, voluntary eye blinking, (de)sursumvergence and anarthria were observed. Thrombosis of the basilar artery and slightly disturbed bioelectrogenesis of the cerebral cortex were proved by clinical examination. The patient died after 41 days. At the autopsy thrombosis a. basilaris and ventrobasal pontine infarction were confirmed. Differential diagnosis of this and similar syndromes has been discussed.
Assuntos
Quadriplegia , Adulto , Infarto Cerebral/complicações , Infarto Cerebral/patologia , Eletroencefalografia , Humanos , Embolia e Trombose Intracraniana/complicações , Embolia e Trombose Intracraniana/patologia , Masculino , Quadriplegia/etiologia , Quadriplegia/fisiopatologiaRESUMO
OBJECTIVES: Angiotensin-converting enzyme (ACE) activity is increased in blood and cerebrospinal fluid of patients with multiple sclerosis (MS). In addition, in experimental autoimmune encephalomyelitis (EAE), an animal model of MS, the blockade of ACE suppresses the disease itself. To analyze the genetic association of the ACE gene with MS, we examined ACE gene insertion/deletion (I/D) polymorphism in MS patients. MATERIALS AND METHODS: A total of 313 MS patients from Slovenia and Croatia and 376 healthy controls were genotyped by polymerase chain reaction method. RESULTS: We found statistically significant differences in the distribution of ACE I/D allele frequencies (P < 0.01) and genotypes (P < 0.04) in male patients. ACE DD genotype was associated with MS in men at an odds ratio of 1.86 (95% CI 1.09-3.19, P = 0.02). CONCLUSIONS: DD genotype of ACE gene might contribute to a higher risk of developing MS in men.
Assuntos
Deleção de Genes , Esclerose Múltipla/genética , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Adulto , Estudos de Casos e Controles , Croácia , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , EslovêniaRESUMO
CASE REPORT: We report the case of a woman who introduced 20 mL of diquat concentrate intravaginally. Abdominal pain, vomiting, diarrhea, burning chest pains, and somnolence appeared within the first 24 hours. The vulva and vagina were corrosively inflamed. Acute renal failure appeared on the third day and was treated by 6 hemodialyses over 6 days. The patient was dysarthric with spastic tetraparesis for 3 months. The electroencephalogram, diffusely slow on day 3, was normal on day 28. The electromyoneurogram was normal at all times. Biopsy of a peripheral nerve performed on day 57 following intoxication showed no myelin or axonal alterations.
Assuntos
Desfolhantes Químicos/intoxicação , Diquat/intoxicação , Esquizofrenia Paranoide/complicações , Administração Intravaginal , Adulto , Desfolhantes Químicos/administração & dosagem , Diquat/administração & dosagem , Eletroencefalografia , Feminino , Humanos , Diálise Renal , Tentativa de Suicídio , Vagina/patologiaRESUMO
An analysis was made of the possible influence of nutritional factors on the etiology of multiple sclerosis in Gorski Kotar (Croatia), a high-risk zone for this disease. A total of 46 MS patients and 92 controls, native-born residents of the area studied, participated in a case-control study. The questionnaire comprised 51 questions concerning dietary habits. An odds ratio (OR) estimate was obtained for all the factors which were more frequently found in the patients than in the controls. Large differences were found in the daily consumption of different quantities of full fat unskimmed milk (OR 21.7; chi 2 42.34; LL 7.12), potatoes with lard and fresh or smoked meat (OR 20.7; chi 2 15.52; LL 2.72), and new potatoes (OR 20.7; chi 2 15.52; LL 2.72). The consumption of unpasteurized milk, animal fat, smoked meat and potatoes are nutritional risk factors which could have an influence on the severity of primary demyelinization in a high-risk area for multiple sclerosis.
Assuntos
Esclerose Múltipla/epidemiologia , Fenômenos Fisiológicos da Nutrição , Adulto , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Croácia/epidemiologia , Inquéritos sobre Dietas , Gorduras na Dieta/efeitos adversos , Comportamento Alimentar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/etiologia , Razão de Chances , Fatores de RiscoRESUMO
An epidemiological research of multiple sclerosis (MS) in Istria, Yugoslavia, was made in the period of 1980-1981. After examining all the sources of health care information, 125 potential MS patients were found in the investigated area. According to the diagnostic criteria by Schumacher et al., 47 affected were recognized and accepted as clinically definite MS patients. The MS prevalence rate in Istria on March 31st, 1981 amounted to 25.0/10(5) inhabitants (CI: 19.9-38.9). Such rates classify Istria in the middle between the medium and high risk zones for the disease in Europe and in the world. The onset age of MS in Istria was about 30 years, the female/male sex ratio was 2.13. The average duration of MS in Istria up to the prevalence day was 16.5 years. The average annual incidence rate was 1.5/10(5) inhabitants.
Assuntos
Esclerose Múltipla/epidemiologia , Adolescente , Adulto , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Iugoslávia/epidemiologiaRESUMO
Epidemiologic study of Huntington's disease (HD) in the Rijeka district represents the first research of its kind carried out in Yugoslavia. After a detailed investigation of all available sources of health information, ten families, with a total number of 24 HD patients, were found. The prevalence rate of HD on March 31, 1981, was 4.46/100,000 population. Most of the patients involved were members from the second or third familial generation. The age at recognition of disease was 41.6 years, with earlier onset among the males. Involuntary movements frequently appeared as the initial symptomatology (45.8%). Duration of the disease from initial symptomatology to death averaged at 10.6 years. Six of nine patients who died had committed suicide. It took physicians of primary care, neurologists, and psychiatrists 5.3 years (1-12 years) to make a definite diagnosis. Nine of the affected families from Rijeka district were autochthonic households. Six of these families immigrated from Saxony, Slovakia and Upper Carinthia during the reign of the Habsburg dynasty (1619-1780).