As a contribution to the knowledge on inorganic arsenic concentration in peripheral nerves, a study was carried out in 20 nerve fragments (10 from N. ulnaris and 10 from N. tibialis) excised during necropsy from 20 corpses less than 24 hours after death and showing no apparent disease of the nervous system. The samples were ashed in an oven overnight at 550°C. The ashes were dissolved in a known volume of 2N-HC1. In this solution inorganic arsenic was determined by the Kingsley-Schaffert method. The results revealed no significant concentrations (vestiges) of inorganic arsenic in the peripheral nerves.

Foram determinadas as concentrações de água, sódio, potássio, cálcio, fósforo, magnésio, cobre, ferro, enxôfre e nitrogênio de espécimes de dura máter aparentemente normal retirados de 18 indivíduos recentemente falecidos em conseqüência de traumatismo crânio-encefálico. As concentrações médias, expressas em peso seco, foram as seguintes: água 79,55 g/100 g ± 2,52; sódio 1,63 mequiv/100 g ± 0,27; potássio 3,68 mequiv/100 g ± 0,66; cálcio 119,84 mg/100 g ± 107,40; fósforo 68,2 mg/100 g ± 34,5; magnésio 0,61 mequiv/100 g ± 0,37; cobre 249,8 mg/100 ± 109,4; ferro 0,82 mg/100 g ± 0,28; enxôfre 490,7 mg/100 g ± 22,5; nitrogênio 3,33 g/100 g ± 0,17.

The concentrations of water, sodium, potassium, calcium, phosphorus, magnesium, copper, iron, sulfur, and nitrogen were determined in samples of apparently normal dura mater removed from 18 subjects recently dead by craniocerebral trauma. The average concentrations expressed in dry weight were: water 79.55 g/100 g ± 2.52; sodium 1.63 mequiv/100 g ±0.27; potassium 3.68 mequiv/100 g ± 0.66; calcium 119.84 mg/100 g ± 107.40; phosphorus 68.2 mg/100 g ± 34.5; magnesium 0.61 mequiv/100 g ± 0.37; copper 249.8 /xg/100 g ± 109.4; iron 0.82 mg/100 g ± 0.28; sulfur 490.7 mg/100 g ± 22.5; nitrogen 3.33 g/100 g ± 0.17.

Foram estudados 42 casos de esquizofrenia. O magnesio foi dosado no sangue (26 casos) e no líquido cefalorraqueano (11 casos) e o enxofre foi dosado no sangue (22 casos). Após análise estatística dos resultados os autores chegaram às seguintes conclusões: 1) as variações dos níveis de magnesio do líquido cefalorraqueano e de enxofre do sangue não são significantes; 2) o nível de magnesio do sangue está significativamente mais baixo nos esquizofrênicos em relação aos normais.

Forty two cases of schizophrenic patients were studied. Magnesium was determined in the blood (26 cases) and in the cerebrospinal fluid (11 cases) and sulfur was determined in the blood (22 cases). By statistical treatment of the data obtained the author came to the following conclusions: 1) the variations in the levels of magnesium in the cerebrospinal fluid and of sulfur in the blood are not significative; 2) the levels of blood magnesium are significantly lower in schizophrenic patients in relation to normal values.

Foram estudados os balanços metabólicos do enxofre em dois pacientes com a forma juvenil da leucodistrofia metacromática. Foi verificado, em ambos os casos, um balanço positivo desse metaloide, aparentemente não influenciado pelo tipo de dieta (geral ou vegetal). Este resultado está de acordo com a atual concepção patogênica dessa moléstia, que consiste, essencialmente, em uma sulfatidose com diminuição da atividade das sulfatases.

The metabolic balances of sulfur in two cases of the late juvenile form of metachromatic leucodystrophy were studied. A positive balance of sulfur was found in both patients, apparently not influenced by the type of diet (either mixed or vegetarian). This finding is in accordance with the current views on the pathogenesis of the disease, namely a sulfatidosis with low sulfatase activity.

São apresentados 31 casos de leucoencefalite esclerosante subaguda, cujo diagnóstico se baseou no quadro clínico, no acentuado aumento das globulinas y no líquido cefalorraqueano, nas características alterações do eletrencefalograma e no estudo anátomo-patológico. Foram encontrados corpúsculos de inclusão intracelular mediante o estudo necroscópico de 8 entre 13 casos e o exame histopatológico de 1 entre 7 biopsias cerebrais. A média etária foi de 11,7 anos, com os limites de 3 a 22 anos. O sexo masculino predominou nitidamente sobre o feminino (23:8). Os pacientes provenientes da zona rural constituíram a maioria dos casos (77,4%). A análise da distribuição geográfica não demonstrou predomínio regional definido. Não foi observada influência estacional sôbre o início da moléstia. Em 16 casos acompanhados até o óbito, a duração média foi de 7 meses, com uma faixa de 2 a 20 meses. No quadro clínico sobressaiu a presença eonstante de mioclonias ou perdas de tono, e de alterações psíquicas. O primeiro sintoma foi representado por distúrbios psíquicos em 55,6% dos pacientes, por mioclonias em 35,5%o e por convulsões do tipo grande mal em 33,3%. Rigidez e sinais piramidais foram muito freqüentes, sendo rara a síndrome cerebelar. Alterações oftalmoscópicas (edema ou palidez de papila, coroidite) foram verificadas em um terço dos casos. Em 2 casos o início da moléstia coincidiu com uma epizootia de galinhas. Os valores do cobre sangüíneo, determinados em 8 casos, situaram-se sempre acima da faixa normal, enquanto a ceruloplasmina permaneceu dentro dos limites normais. Os valores do enxofre sangüíneo revelaram-se elevados em 3 pacientes examinados. Os níveis da magnesemia mostraram-se variáveis em 6 pacientes estudados.

Thirty-one cases of SSLE are reported. The diagnosis was based on the clinical picture, the marked increase of gammaglobulins in the cerebrospinal fluid, the typical electroencephalographic pattern, and the pathological examination. Intracellular inclusion bodies were found at the postmortem examination of 8 among 13 cases and in 1 of 7 cerebral biopsies. The mean age was 11.7 years, with the limits of 3 and 22 years. Males prevailed markedly over females (23:8). Patients from rural regions were the bulk of the series (77.4%). No definite regional predominance was demonstrated by the analysis of the geographic distribution. A seasonal influence was not evidenced. In 16 patients followed up to death, the average duration of the disease was 7 months, with a range from 2 to 20 months. In the clinical picture the constancy of myoclonus or losses of tonus, and psychiatric disorders was evidenced. The first symptom was the psychiatric alteration in 55.6% of the cases, myoclonus in 35.5% and grand mal seizures in 33.3%. Rigidity and pyramidal signs were very frequent, while the cerebellar syndrome was rare. Ophtalmoscopic alterations (edematous or pale disk, choroidits) were found in a third of the cases. In two cases an epizootic of household chicken was coincident with the onset of the disease. The blood copper concentrations determined in 8 cases were always above the normal range, while ceruloplasmin remained within the normal limits. The blood sulfur levels were high in 3 patients studied. The blood magnesium levels were variable in 6 patients studied.

Foi determinada a atividade cobre-oxidase (ceruloplasmina), pelo método de Houchin, no sôro de 65 indivíduos normais, de raça branca, com idades entre 20 e 45 anos. Foi obtido o seguinte valor médio neste grupo: 33,4 ± ± 3,1 mg/100 ml. Todavia, nos homens (n = 40) a média foi de 32,6 ± 3,1 mg/100 ml, enquanto nas mulheres (n = 25) foi de 34,6 ± 2,8 mg/100 ml; a diferença entre êstes subgrupos é significante. O sôro dialisado em 10 indivíduos normais perdeu 62,8 ± 0,8% da atividade cobre-oxidase. Não encontramos atividade cobre-oxidase na urina de 20 indivíduos normais nem no esperma de 2 outros indivíduos normais.

Copper-oxidase activity (ceruloplasmin) was determined, according to Houchin's method, in the blood serum of 65 normal white subjects, aged 20 to 45. The average concentration in this group was 33.4 ± 3.1 mgm./100 ml. In men (n = 40), however, the mean was 32.6 ± 3.1 mgm./100 ml, while in women (n = 25) it was 34.6 ± 2.8 mgm./100 ml; the difference between these means is significant. The dialysed blood serum of 10 normal subjects lost 62.8 ± 0.8 per cent of the copper-oxidase activity. No copper-oxidase activity was found neither in the urine of 20 normal subjects nor in the sperm of other 2 normal subjects.

Após reverem os marcos fundamentais da história da moléstia de Wilson, os autores relatam 3 casos desta afecção. Dois pacientes faleceram, tendo o exame necroscópico confirmado o diagnóstico clínico-laboratorial. Entre as particularidades do quadro neurológico, sobressaía, em um caso, a existência de espasticidade em flexão e de sinais cerebelares. O anel corneano de Kayser-Fleischer apresentou-se sempre completo e bilateral. Entre os caracteres inconstantes do proteinograma do líquido cefalor-raqueano são salientadas a ausência de pré-albumina e os baixos níveis de globulinas 1 e 2. Provàvelmente pela primeira vez, foi observada redução dos valôres de fósforo e magnésio no sôro sangüíneo. O estudo das funções hepática e renal foi realizado por meio dos testes convencionais, tendo-se verificado que o comprometimento do fígado era discreto, em nítida desproporção com o grau de lesão histológica do órgão (cirrose pós-necrótica). Em relação aos rins, foi comprovada hiperaminacidúria em dois casos, associada a discreta diminuição da excreção tubular, em um deles. A análise genética pôde ser mais aprofundada em um dos casos, incluindo a pesquisa, nos seus familiares, do anel de Kayser-Fleischer, a determinação dos valôres de cobre no sangue e urina, e da ceruloplasminemia, além do estudo citogenético do paciente. O anel corneano foi comprovado em uma irmã assintomática, ocorrendo nela e em outros parentes nítidas alterações do metabolismo do cobre. O estudo do conteúdo de cobre nos tecidos confirmou os dados da literatura quanto ao acúmulo desse metal no pancreas, rins, supra-renais, fígado, substâncias branca e cinzenta do cérebro, tálamo, córtex cerebelar e núcleo lentículo-caudado, assim como níveis normais nas unhas e baixos nos cabelos. Verificação provàvelmente inédita foi o achado de acúmulo de cobre na substância negra e núcleo rubro, assim como nas glândulas submandibulares e no cerume. No líquido cefalorraqueano os valôres do cobre total se encontravam dentro dos limites normais e muito próximos dos do cobre de reação direta. Na bile, de acordo com as referências da literatura, observamos concentração de cobre normal na bile total e na fração B, e valôres diminuídos nas biles A e C. Em todos os casos verificou-se diminuição da concentração de cobre e ceruloplasmina no sangue e elevação dos valores na urina e saliva. O cobre de reação direta do soro, determinado em um caso, mostrou-se em nível relativamente alto. O estudo dos balanços metabólicos demonstrou positividade para o cobre nos períodos de contrôle, e discreta negatividade do balanço do fósforo. Após o emprego do BAL, e particularmente da D-penicilamina, o balanço do cobre se negativou e o do fósforo tornou-se mais acentuadamente negativo. Dieta hipocúprica, resinas permutadoras de cations ou sulfeto de potássio foram associados aos agentes complexantes. A melhora clínica, embora nítida no caso 3 após o uso de D-penicilamina e estrógenos, não correspondeu ao excelente resultado bioquímico.

After a review of the fundamental steps in the history of hepatolenticular degeneration, the authors report 3 cases of the disease. Two patients died, the post-mortem examination having confirmed the clinical and laboratorial diagnosis. Among the neurologic particularities the presence, in one case, of flexion spasticity and cerebellar signs, besides the usual picture of Wilson's disease, is stressed. The Kayser-Fleischer corneal ring was always complete and bilateral. Among the unsteady features of the proteinogram of the cerebrospinal fluid, absence of pre-albumin, and lowering of 1 and 2 globulins were more frequently found. Low blood phosphorus and magnesium contents were found in our cases, seemingly for the first time in the literature. Special attention was dedicated to the study of liver and kidney functions through the proper functional tests. The impairment of liver function was mild, in a striking disagreement with the degree of the histologic picture of post-necrotic cirrhosis. Regarding the kidney, in two cases increased urinary excretion of aminoacids was found, associated with a slightly lowered tubular excretion in one of them. The genetic study could be more detailed in one of the cases, and included the search for Kayser-Fleischer corneal ring, the determination of copper in blood and urine, and of blood ceruloplasmin in the relatives, besides the cytogenetic study of the patient. Kayser-Fleischer ring was found in an otherwise asymptomatic sister, and disorders of copper metabolism were evidenced in her and some other relatives. The study of copper contents in the tissues confirmed the data of the literature regarding the overload in pancreas, kidneys, adrenal glands, liver, white and gray matter of the brain, thalamus, cerebellar cortex, and in the lenticular and caudate nuclei, as well as normal levels in the nails and low contents in the hairs. Presumably for the first time, an increase of copper concentration in the substantia nigra and red nucleus, as well as in the submaxillary gland and cerumen, was found. In the cerebrospinal fluid the total copper content was very close to the direct reacting copper level, and fell into the normal range. In bile our data agree with the references in the literature, the copper content being normal in total bile and in B-fraction, and low in A and C-bile. Low blood copper and ceruloplasmin contents and increased copper concentration in urine and saliva were found in the three cases. Blood direct reacting copper was determined only in one case and showed a moderate increase. The study of the metabolic balance showed a positive result for copper in the control periods, and a slight negative result for phosphorus. After the use of BAL, and especially of D-penicillamine, the copper balance became negative and the phosphorus balance turned out markedly negative. Low copper diet, cation exchanging resins or potassium sulphide were associated with the metal binding agents in different therapeutic schemes. The clinical improvement, although noticeable in case 3 after the use of D-penicillamine and estrogens, did not agree with the gratifying biochemical results.

Estudo do comportamento das concentrações de cloro, sódio, potássio e fósforo inorgânico no LCR de 33 pacientes na vigência de crises convulsivas e de 17 pacientes epilépticos na interfase de crises convulsivas. Os resultados obtidos foram estudados em comparação aos valôres normais anteriormente relatados. Não foram encontradas modificações quanto às taxas de íons estudados no LCR dos pacientes epilépticos examinados no período intercrítico. Foram verificadas alterações das taxas de íons estudados no LCR entre os pacientes estudados na vigência de crise convulsiva. As alterações encontradas se caracterizavam por aumento das taxas de potássio e de fósforo inorgânico. Os aumentos encontrados foram estatisticamente significantes. A taxa de sódio no LCR dos pacientes cuja crise convulsiva não se associava a outras manifestações de doença se apresentava, em média, aumentada. Diminuição das taxas médias de sódio e de cloro foi constatada entre os pacientes cuja crise convulsiva ocorreu durante reidratação. Os resultados foram discutidos em relação a dados da literatura quanto às modificações do metabolismo iônico envolvidas nos fenômenos de despo- larização de membrana, que ocorrem na crise convulsiva. Os aumentos verificados para as concentrações de potássio e de fósforo inorgânico no LCR durante a crise convulsiva confirmam os dados quanto à passagem dêsses ions do espaço intracelular para o extracelular nessas condições, já registrados através de estudos feitos no sangue e em amostras de cérebro de epilépticos.

The concentrations of Cl, Na, K and inorganic P were determined in CSF samples of 50 patients with epilepsy. In 33 patients the sample studied was collected at the occasion of a convulsive seizure (group I). In 17 patients it was collected in the intermediate period between seizures (group II). The patients of group I were children. They were grouped according to conditions associated to the convulsive seizure. In 9, there were no other manifestation of disease (sub-group Ia). In 12, the seizure was associated to hyperthermy (sub-group lb) and in 12 it occurred during rehydration therapy (sub-group Ic). The results were compared statistically to those obtained for a series of 25 non epileptic patients taken as control (group III). The results obtained for the latter fall in the normal range and were reported previously. Results obtained for the patients of the group II did not differ from those found in the control group. The concentrations of K and inorganic P were found to be increased in group I. Their mean differ significantly of those found for control group. There occurred a positive correlation between the concentrations of K and P in group I. The value of the correlation was significant. The findings regarding to the concentration of Na show shiftings that were not uniform. Their mean value was elevated in the sub-group Ia, normal in the sub-group Ib and low in the sub-group Ic. The mean value of the Cl concentration was low in the sub-group Ic. It was normal in the other two sub-groups. Data concerning to the changes in the concentrations of K and inorganic P in the CSF during convulsive seizures were discussed. Bioelectric changes of the cellular membrane during seizures are reported in the literature. They induce the passage of these components through the cellular membrane to the extracellular space thus resulting the elevation of their concentration in this space. The results presented make it possible to evaluate the extension of such changes in the fluid of the extravascular space. The latter is represented in the case by the CSF. The exchange of intracellular K and inorganic P to the extracellular space is accompanied by exchange of Na in the opposite direction. The Na concentration is referred to elevated in the intracellular space in these circumstances. The results reported suggest that Na is not provided by CSF only, for this exchange. Other compartments of the extracellular space and/or of the intracellular space may be more directly involved. This is suggested because the concentrations of Na in the CSF did not show uniform changes in the three sub-groups of patients with seizures that were considered. General changes in the extracellular fluid composition might explain the differences in the concentration of Na which were reported. The concentrations of Na and Cl found in the CSF of patients with convulsion during rehydration therapy are elucidative in this way. They were found to be low, suggesting an excess in the water uptake.

Foi estudado o comportamento das taxas de cloro, sódio, potássio e fósforo no LCR de 25 pacientes. Os valores encontrados se mostraram em média compatíveis aos registrados na literatura para caracterizar as concentrações normais desses componentes inorgânicos do LCR. Não foram verificadas variações significativas das taxas em relação ao sexo, à idade e à raça. Foi verificado que havia dependência entre as taxas de cloro e as de sódio, potássio e fósforo. Essa dependência era representada por correlação positiva entre cloro e sódio e entre cloro e potássio e negativa entre cloro e fósforo. Os valores dessas correlações eram significativos.

The content of Cl, Na, K and inorganic P was studied in the CSF of 25 patients. The CSF samples were normal in respect to pressure, aspect, color, cytology and protein content. The results of reactions for globulins and of the complement fixation tests for syphilis and cysticercosis were negative in all of them. CSF samples were obtained from patients with chronic neurologic conditions. They had no evidences of metabolic disturbances and were not accompanied by acute episodes such as convulsions. The concentrations of the inorganic components studied are reported in table two and their estimatives in table three. No influences of the sex, the age and the color of the patients upon the concentration were found. It was verified a positive correlation between Cl concentration and the concentration of Na and K. A negative correlation was found between the concentration of Cl and inorganic P. The values of such correlations are significant.