Ethylene glycol poisoning following ingestion of brake fluid / Envenenamiento con glicol de etileno tras la ingestión de líquido de frenos

A 32-year old male, with a history of depression and previous suicide attempts, was brought to hospital comatose after ingestion of brake fluid. He developed severe metabolic acidosis with an increased anion gap, hypotension, seizures and mild renal impairment. He required intensive care treatment for ventilatory and inotropic support. The clinical features, diagnosis and treatment of this unusual poison are discussed.

Un sujeto masculino de 32 años de edad, con una historia de depresión y previos intentos de suicidio, fue llevado en estado comatoso al hospital, luego de haber ingerido líquido de freno. El paciente desarrolló una acidosis metabólica severa con aumento del gap aniónico, hipertensión, convulsiones, e insuficiencia renal moderada. Requirió tratamiento mediante cuidados intensivos con apoyo ventilatorio e inotrópico. El trabajo analiza las características clínicas, el diagnóstico y el tratamiento de este envenenamiento inusual.

No evidence for mutations in exons 1, 8 and 18 of the patched gene in sporadic skin lesions of Brazilian patients

There is strong evidence that the patched (PTCH) gene is a gene for susceptibility to the nevoid basal cell carcinoma syndrome. PTCH has also been shown to mutate in both familial and sporadic basal cell carcinomas. However, mutations of the gene seem to be rare in squamous cell carcinomas. In order to characterize the role of the gene in the broader spectrum of sporadic skin malignant and pre-malignant lesions, we performed a polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis of genomic DNA extracted from 105 adult patients (46 females and 59 males). There were 66 patients with basal cell carcinomas, 30 with squamous cell carcinomas, 2 with malignant melanomas and 7 patients with precancerous lesions. Two tissue samples were collected from each patient, one from the central portion of the tumor and another from normal skin. Using primers that encompass the entire exon 1, exon 8 and exon 18, where most of the mutations have been detected, we were unable to demonstrate any band shift. Three samples suspected to present aberrant migrating bands were excised from the gel and sequenced directly. In addition, we sequenced 12 other cases, including tumors and corresponding normal samples. A wild-type sequence was found in all 15 cases. Although our results do not exclude the presence of clonal alterations of the PTCH gene in skin cancers or mutations in other exons that were not screened, the present data do not support the presence of frequent mutations reported for non-melanoma skin cancer of other populations

Lack of mutations of exon 2 of the MEN1 gene in endocrine and nonendocrine sporadic tumors

In addition to the mutations that underlie most cases of the multiple endocrine neoplasia type 1 (MEN1) syndrome, somatic mutations of the MEN1 gene have also been described in sporadic tumors like gastrinomas, insulinomas and bronchial carcinoid neoplasm. We examined exon 2 of this gene, where most of the mutations have been described, in 148 endocrine and nonendocrine sporadic tumors. DNA was obtained by phenol/chloroform extraction and ethanol precipitation from 92 formalin-fixed, paraffin-embedded samples, and from 40 fresh tumor tissue samples. We used 5 pairs of primers to encompass the complete coding sequence of exon 2 of the MEN1 gene that was screened by the polymerase chain reaction-single-stranded conformation polymorphism (PCR-SSCP) technique in 78 sporadic thyroid cancers: 28 follicular adenomas, 35 papillary carcinomas, 14 follicular carcinomas, and 1 anaplastic thyroid carcinoma. We also examined 46 adrenal lesions (3 hyperplasias, 3 adenomas and 35 adrenocortical carcinomas, 2 pheochromocytomas, 2 ganglioneuroblastomas, and 1 lymphoma) and 24 breast cancers (6 noninvasive, 16 infiltrating ductal, and 2 invasive lobular tumors). The PCR product of 5 tumors suspected to present band shifts by SSCP was cloned. Direct sense and antisense sequencing did not identify mutations. These results suggest that the MEN1 gene is not important in breast, thyroid or adrenal sporadic tumorigenesis. Because the frequency of mutations varies significantly among tumor subgroups and allelic deletions are frequently observed at 11q13 in thyroid and adrenal cancers, another tumor suppressor gene residing in this region is likely to be involved in the tumorigenesis of these neoplasms

Serum cytokine levels in autoimmune and non-autoimmune hyperthyroid states

Although the role of interleukin-2 (IL-2) and interferon gamma (yIFN) is still poorly understood in hyperthyroid diseases, it is reasonable to assume that these cytokines may be present at higher levels in Graves' disease (GD) than in other primarily non-autoimmune thyroid diseases. In order to look for an easy method to distinguish GD from primarily non-autoimmune causes of hyperthyroidism, we compared 13 healthy individuals with 21 treated and untreated hyperthyroid GD patients and with 19 patients with hyperthyroidism due to other etiologies: 7 cases of multinodular goiter, 5 cases of excessive hormone replacement and 7 cases of amiodarone-associated hyperthyroidism. All patients presented low TSH levels and a dubious clinical thyroid state. We found a good correlation between TSH and serum IL-2 levels (r = 0.56; P

Comparaçäo entre duas estratégias para a detecçäo precoce do hipotireoidismo congênito / Comparison between two strategies for the precocious detection of congenital hypothyroidism

Objetivo. Comparar em recém-nascidos (RN) duas estratégias diferentes para o rastreamento do hipotiroidismo congênito (HC), a dosagem primária de TSH no sangue colhido do cordao umbilical (método 1) e a dosagem primária de T4 no sangue colhido por punçao de calcanhar no 2 dia de internaçao (método 2). Métodos. Os autores compararam as duas estratégias em 10.000 RN. Dosaram o TSH por método imunofluorimétrico sensível em papel de filtro e o T4 por radioimunoensaio em papel de filtro. A coleta de sangue do calcanhar foi realizada no 2 dia de vida. Resultados. Os dois programas diagnosticaram todos os casos de HC nos RN (4 casos, 1/2.500 RN). O índice de rechamada por coleta inadequada foi nulo no método 1 e de 8,5 por cento (850RN) no método 2. O índice de reconvocaçao para confirmaçao de resultados foi de 0,06 por cento (6RN) no método 1 e 2,25 por cento (225 RN) no método 2; quando este método incluía também a dosagem suplementar de TSH, o índice baixou para 1,63 por cento (163 RN). Conclusao. Os dados dos autores evidenciam a superioridade técnica da coleta de sangue a partir do cordao umbilical em relaçao à punçao de calcanhar, assim como da dosagem primária de TSH em relaçao à de T4, uma vez que apresentam índices muito menores de reconvocaçao.

Valor preditivo da dosagem das iodotironinas na avaliaçäo prognóstica de doentes graves / Predictiove value of the measurement of iodotironines on the prognosis of patients with severe nonthyroidal illness

Os valores das dosagens de T3 e de T4 diferenciaram os pacientes com boa e ma evoluçao durante a internaçao em unidade de terapia intensiva. Objetivo. Procurar indicadores para o prognóstico de doentes graves por meio do estudo seqüencial dos níveis séricos dos hormonios tiroidianos. Métodos. Os autores mediram as iodotironinas (T3, T4 e rT3) por ocasiao da entrada e da alta de 42 pacientes internados em unidade de terapia intensiva. Verificaram, também, os dados referentes à última coleta de outros 17 doentes, transferidos para a UTI após o início do quadro clínico. Resultados. Comparando pacientes que evoluíram bem com aqueles que foram a óbito, observaram, nos primeiros, níveis iniciais normais de T4 em 76 por cento dos casos, valores que se mantiveram estaveis ou se elevaram em 65 por cento dos pacientes durante a internaçao, de tal forma que níveis normais de T4 estavam presentes em 70 por cento dos casos por ocasiao de sua alta. Ao contrario, 56 por cento dos pacientes que evoluíram mal ja apresentavam T4 inicial baixo, que diminuiu ainda mais de 95 por cento dos pacientes durante a internaçao, notando-se valores baixos em 81 por cento dos casos por ocasiao da ultima amostra. Os valores de T3 e T4 em conjunto também diferenciaram os pacientes com boa e m evoluçao. Conclusao. Os autores sugerem que a observaçao dos níveis séricos das iodotironinas pode oferecer importante subsídio na avaliaçao prognóstica de doentes em estado grave.