INTRODUCTION:The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions.OBJECTIVES:To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome.METHODS:Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities.RESULTS:Of 14 patients (8m – 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n = 2).CONCLUSION:The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.
Pulmonary alveolar microlithiasis (PAM) is a genetic lung disorder that is characterized by the accumulation of calcium phosphate deposits in the alveolar spaces of the lung. PAM is discovered incidentally on radiographs performed for other purposes, and the typical disease course is characterized by slowly progressive respiratory failure over decades. Treatment remains supportive. A 62-year-old woman presented in the emergency department with dyspnoea and fatigue. On physical examination she had crackles on pulmonary auscultation and digital clubbing. A CT scan of the chest showed multiple high-density areas throughout the lung parenchyma, suggesting the presence of alveolar microlithiasis. This CT finding is the typical radiological presentation of PAM, while the hallmark presentation is clinical–radiological dissociation.
Os problemas éticos, enfrentados pelos profissionais do nível primário, são complexos, porque surgem de situações únicas pela variedade de dimensões do cuidado. O acompanhamento de pacientes resistentes ao tratamento, difíceis de cuidar é uma dessas situações que necessita de um manejo diferenciado. Para discutir esta questão, será analisado um caso de difícil acompanhamento, relatado por uma equipe da atenção primária. O caso emergiu numa pesquisa qualitativa sobre problemas éticos realizada num município da região metropolitana de Porto Alegre. A coleta de dados foi por meio de discussões focais sobre problemas éticos, e seus cursos de solução. Para superar as dificuldades da relação terapêutica entre usuários e profissionais, os resultados apontaram para a necessidade de ampliar a compreensão das necessidades em saúde, de reconhecer o contexto relacional da aplicação dos procedimentos clínicos e a importância da experiência subjetiva do adoecimento.
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