A síndrome de Cowden é caracterizada por pólipos de hamartoma, triquelomomas, risco aumentado em desenvolver neoplasias e está associada a mutações germinativas no gene PTEN. Procuramos por mutação germinativa no PTEN de uma paciente de 49 anos que apresentou triquilemomas com história pregressa de carcinoma de mama e realizou tireoidectomia devido a nódulo de tireoide. Investigamos também uma mutação somática em tecidos tumorais de mama e tireoide. O DNA foi extraído de leucócitos periféricos, de amostras de parafina de carcinoma de mama e exame citológico de nódulo de tireoide obtido de biópsia por agulha fina, cujo diagnóstico histopatológico foi de bócio adenomatoso. O PTEN foi amplificado e sequenciado. Identificou-se uma nova mutação em decorrência de uma inversão de T>A na posição 159 e A>T na posição 160, levando à substituição de valina para ácido aspártico na posição 53. A mutação p.Val53Asp também foi encontrada em estado homozigoto em amostras obtidas do adenocarcinoma de mama e da biópsia de nódulo tireoidiano, denotando perda de heterozigosidade. Portanto, demonstramos uma mutação germinativa no PTEN e também a perda somática do alelo selvagem PTEN no tumor de mama e da tireoide de uma paciente com síndrome de Cowden. Arq Bras Endocrinol Metab. 2012;56(8):592-6

Cowden syndrome is characterized by hamartomatous polyps, trichilemmomas, increased risk of developing neoplasms, and is associated with germline mutations in the PTEN gene. We searched for germline mutations in PTEN in a 49-year-old female patient who presented trichilemmoma with previous history of breast carcinoma, and thyroidectomy for a thyroid nodule. We also searched for somatic mutations in breast and thyroid tumoral tissues. DNA was extracted from peripheral leukocytes, paraffin samples of breast carcinoma, and cytological smears of thyroid nodule fine-needle aspiration biopsy, whose final histopathological diagnosis was adenomatous goiter. PTEN was amplified and sequenced. We identified a novel mutation, due to a T>A inversion at position 159 and A>T inversion at position 160, leading to valine-to-aspartic acid substitution at position 53. The p.Val53Asp was also found in homozygous state in samples obtained from adenocarcinoma breast and thyroid biopsy, denoting loss of heterozygosity. Here, we demonstrated a novel germline mutation in PTEN, as well as somatic loss of the wild-type PTEN allele in breast and thyroid tumors in a patient with Cowden syndrome. Arq Bras Endocrinol Metab. 2012;56(8):592-6

OBJECTIVE: Non-pituitary tumors have been reported in a subset of patients harboring germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. However, no detailed investigations of non-pituitary tumors of AIP-mutated patients have been reported so far. PATIENTS: We examined a MEN1- and p53-negative mother-daughter pair with acromegaly due to somatotropinoma. Subsequently, the mother developed a large virilizing adrenocortical carcinoma and a grade II B-cell non-Hodgkin's lymphoma. DESIGN: Mutational analysis was performed by automated sequencing. Loss-of-heterozygosity (LOH) analysis was carried out by sequencing and microsatellite analysis. AIP expression was assessed through quantitative PCR (qPCR) and immunohistochemistry. RESULTS: The functional inactivating mutation c.241C>T (R81X), which blocks the AIP protein from interacting with phosphodiesterase 4A (PDE4A), was identified in the heterozygous state in the leukocyte DNA of both patients. Analyzing the tumoral DNA revealed that the AIP wild-type allele was lost in the daughter's somatotropinoma and the mother's adrenocortical carcinoma. Both tumors displayed low AIP protein expression levels. Low AIP gene expression was confirmed by qPCR in the adrenocortical carcinoma. No evidence of LOH was observed in the DNA sample from the mother's B-cell lymphoma, and this tumor displayed normal AIP immunostaining. CONCLUSIONS: Our study presents the first molecular analysis of non-pituitary tumors in AIP-mutated patients. The finding of AIP inactivation in the adrenocortical tumor suggests that further investigation of the potential role of this recently identified tumor suppressor gene in non-pituitary tumors, mainly in those tumors in which the cAMP and the 11q13 locus are implicated, is likely to be worthwhile.

OBJETIVO: Caracterizar o usuário de medicamentos, especialmente aquele que se automedica. MATERIAL E MÉTODO: Foram entrevistadas 413 pessoas do Município de Santa Maria, Estado do Rio Grande do Sul, Brasil, sobre o consumo de medicamentos no último mês. RESULTADOS: Dos entrevistados, 69,9% utilizaram medicamentos e destes 76,1% o fizeram através de automedicação. Cefaléia (28,8%) foi a principal queixa motivadora de automedicação. O ácido acetilsalicílico foi a droga mais utilizada (25,4%). Dos fármacos utilizados na automedicação, 51,2% foram indicados por terceiros e 51,7% dessas indicações eram prescrições médicas emitidas em consultas anteriores. CONCLUSÃO: Idade, grau de escolaridade e acompanhamento médico periódico correlacionaram-se significativamente com automedicação.

OBJECTIVE: The characterization of drug users, especially as regards self-medication and the determination of its prevalence in the population studied. MATERIAL AND METHOD: About 413 people that had used drugs in the previous month were interviewed. RESULTS: From the interviewed, 69.9% used medicines and of those 76.1% were self medicated. Headache (28.8%) was the main complaint among the self-medicated group. Acetilsalicilic acid was the most frequently used medicine (25.4%). As regards the drugs utilized, 51.2% of the users had received a recommendation from a third party and 51.7% used old prescriptions, given in previous consultations. CONCLUSION: Age, schooling and absence of periodic medical consultation were significant statistical factors in self-medication.

OBJETIVO: Caracterizar o usuário de medicamentos, especialmente aquele que se automedica. MATERIAL E MÉTODO: Foram entrevistadas 413 pessoas do Município de Santa Maria, Estado do Rio Grande do Sul, Brasil, sobre o consumo de medicamentos no último mês. RESULTADOS: Dos entrevistados, 69,9% utilizaram medicamentos e destes 76,1% o fizeram através de automedicação. Cefaléia (28,8%) foi a principal queixa motivadora de automedicação. O ácido acetilsalicílico foi a droga mais utilizada (25,4%). Dos fármacos utilizados na automedicação, 51,2% foram indicados por terceiros e 51,7% dessas indicações eram prescrições médicas emitidas em consultas anteriores. CONCLUSÃO: Idade, grau de escolaridade e acompanhamento médico periódico correlacionaram-se significativamente com automedicação.

OBJECTIVE: The characterization of drug users, especially as regards self-medication and the determination of its prevalence in the population studied. MATERIAL AND METHOD: About 413 people that had used drugs in the previous month were interviewed. RESULTS: From the interviewed, 69.9% used medicines and of those 76.1% were self medicated. Headache (28.8%) was the main complaint among the self-medicated group. Acetilsalicilic acid was the most frequently used medicine (25.4%). As regards the drugs utilized, 51.2% of the users had received a recommendation from a third party and 51.7% used old prescriptions, given in previous consultations. CONCLUSION: Age, schooling and absence of periodic medical consultation were significant statistical factors in self-medication.