ABSTRACT
OBJETIVOS: Descrever um caso de Discondrosteose de Léri-Weill, uma displasia óssea hereditária rara, frequentemente associada a uma haploinsuficiência do gene SHOX (short stature homeobox-containing). DESCRIÇÃO DO CASO: Criança de três anos, sexo feminino, enviada à consulta de pediatria por suspeita de hipertensão arterial. Antecedentes pessoais e familiares irrelevantes. Ao exame físico apresentava aspeto dismórfico, com encurtamento dos membros superiores e inferiores, mãos e pés pequenos e pescoço curto. A hipertensão arterial não foi confirmada. O estudo genético para excluir cromossomopatia revelou mutações no gene SHOX compatíveis com Discondrosteose de Léri-Wei. CONCLUSÕES: O exame físico é fundamental na prática clínica, permitindo identificar alterações importantes que nem sempre são o motivo da consulta. Na Discondrosteose de Léri-Weill o pronto diagnóstico e a orientação adequada são fundamentais, sobretudo pelas implicações terapêuticas desse distúrbio, que apresenta evolução favorável se tratado com hormônio do crescimento.
AIMS: To report a case of Léri-Weill dyschondrosteosis, a rare hereditary bone dysplasia often associated with a haploinsufficiency of the SHOX (short stature homeobox-containing) gene. CASE DESCRIPTION: A three-year-old female had sought medical care for hypertension. Irrelevant personal and family background. The physical examination showed dysmorphic aspect with shortening of arms and legs, small hands and feet, and short neck. Hypertension was not confirmed. Genetic study for chromosomal deletion syndromes revealed mutations in the SHOX gene compatible with Léri-Weill dyschondrosteosis. CONCLUSIONS: Physical examination is essential in clinical practice, allowing the identification of majorchanges that are not always the reason for the medical appointment. Early diagnosis and proper guidance are essential in Léri-Weill dyschondrosteosis, especially because of its therapeutic implications. The outcome is favorable if the disorder is treated with growth hormone therapy.
Subject(s)
Female , Child, Preschool , Genetic Diseases, Inborn , Physical Examination , Failure to ThriveABSTRACT
INTRODUCTION: The Standard Precautions are measures to prevent healthcare workers' exposure to infectious agents, like HIV, HBV and HCV, through the routine use of techniques and appropriate barriers that reduce the exposure probability. These measures intend to prevent contact with blood and other fluids, potentially infected, contributing to the reduction of nosocomial infection. OBJECTIVES: To evaluate the knowledge, attitudes and adherence to the standard precautions for infection control among the healthcare workers of the Hospital Geral de Santo António, through the application of a questionnaire. To identify the gaps of each professional group and clinical departments, in order to better define the needs to planning future education. RESULTS: Of the total of 172 questionnaires, 7% did not know about the standard precautions, the majority from medical staff. Importantly 21% affirm recapping needles. Globally, a low level knowledge about the ways HIV, HBV and HCV is transmitted was verified, mostly regarding the possibility of transmission from dishes and other material necessary to give food to the patients. About 95% considered it important to wash the hands in several different situations but 21% are unaware of alternative alcoholic solutions. CONCLUSIONS: There is a precarious knowledge of these measures, enhancing the risk of nosocomial infection and pointing to the need of specific education for all different health professionals.
