Que Urgência?

Objectivo: Caracterizar a população que utiliza o serviço de urgência, as circunstâncias que determinam a procura de um médico e as razões porque recorrem a um serviço de urgência hospitalar. Material e métodos: Numa amostra aleatória de 1000 utentes recolhem-se os dados relativos à idade/sexo/residência/classe social/tipo de assistência médica/patologia e razões da ida ao Hospital. Registam-se depois o diagnóstico, exames complementares e, a necessidade de atendimento num serviço hospitalar é avaliada. Resultados: Esta série (n = 1000) foi constituída por 533 (53,3%) crianças do sexo masculino e 467 (46,7%) do sexo feminino, com idades compreendidas entre os três dias de vida e os 15 anos (média de 3,4 anos), 92,4% provenientes da área da grande Lisboa. A grande maioria (94,2%) recorre por iniciativa própria, 46,7% nas primeiras 24 horas de doença e 26,3% já tinham consultas prévias pela mesma doença. Das várias razões apontadas como causa de consulta há a salientar 26,5% de utilizadores habituais. A patologia respiratória foi predominante (39,6%). Apenas 24,6% das situações foram consideradas urgentes, embora nem todas necessitassem do nível de cuidados de um hospital central. Não se verificaram diferenças relativamente ao grupo etário e ao estrato sócio económico, entre o grupo referenciado e o que recorreu por iniciativa própria, sendo contudo significativa a diferença destes grupos quanto à percentagem de internamentos e ao número de urgências. Conclusão: Após análise dos resultados, propõem-se algumas soluções possíveis para o grande afluxo de crianças ao serviço de urgência, por motivos não urgentes

Aseptic Meningitis Associated with Intravenous Immunoglobulin

Aseptic meningitis can be an adverse drug reaction to intravenous immunoglobulin. We describe a previously healthy 4-yearold boy, admitted for idiopathic thrombocytopaenic purpura. He received two infusions of intravenous immunoglobulin. Four hours after the last administration the patient developed a meningeal syndrome. Analysis of cerebrospinal fluid revealed 500 cells/μl (predominantly neutrophils) and normal biochemistry. Bacteriological and virological tests were negative. After 48h he was asymptomatic. Given the absence of other aetiological factors and the temporal relationship between the administration of immunoglobulin and the development of symptoms, we believe the patient had an aseptic meningitis related to intravenous immunoglobulin. This therapy may cause headache, fever and vomiting; however, lumbar puncture is not usually performed, so this complication may be underdiagnosed

Theory of Stellar Oscillations

In recent years, astronomers have witnessed major progresses in the field of stellar physics. This was made possible thanks to the combination of a solid theoretical understanding of the phenomena of stellar pulsations and the availability of a tremendous amount of exquisite space-based asteroseismic data. In this context, this chapter reviews the basic theory of stellar pulsations, considering small, adiabatic perturbations to a static, spherically symmetric equilibrium. It starts with a brief discussion of the solar oscillation spectrum, followed by the setting of the theoretical problem, including the presentation of the equations of hydrodynamics, their perturbation, and a discussion of the functional form of the solutions. Emphasis is put on the physical properties of the different types of modes, in particular acoustic (p-) and gravity (g-) modes and their propagation cavities. The surface (f-) mode solutions are also discussed. While not attempting to be comprehensive, it is hoped that the summary presented in this chapter addresses the most important theoretical aspects that are required for a solid start in stellar pulsations research.Comment: Lecture presented at the IVth Azores International Advanced School in Space Sciences on "Asteroseismology and Exoplanets: Listening to the Stars and Searching for New Worlds" (arXiv:1709.00645), which took place in Horta, Azores Islands, Portugal in July 201

Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism

STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of GnRH, and can be associated with anosmia/hyposmia (Kallmann syndrome, KS) or with a normal sense of smell (normosmic CHH). Mutations in the anosmin-1 (ANOS1) gene are responsible for the X-linked recessive form of KS. STUDY DESIGN, SIZE, DURATION: This cross-sectional study included 42 unrelated men with CHH (20 with KS and 22 with normosmic CHH). PARTICIPANTS/MATERIALS, SETTING, METHODS: Patients were screened for mutations in the ANOS1 gene by DNA sequencing. Identified mutations were further investigated by RT-PCR analysis and multiplex ligation-dependent probe amplification (MLPA) analysis. MAIN RESULTS AND THE ROLE OF CHANCE: Hemizygous mutations were identified in three (7.1%) KS cases: a novel splice acceptor site mutation (c.542-1G>C), leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation (c.571C>T, p.Arg191*); and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis. LIMITATIONS, REASONS FOR CAUTION: Objective olfactory testing was not performed in all cases of self-reported normosmia and this may have underestimated the olfactory deficits. WIDER IMPLICATIONS OF THE FINDINGS: This study further expands the spectrum of known genetic defects associated with CHH and suggests that patients with self-reported normal olfactory function should not be excluded from ANOS1 genetic testing. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by the Portuguese Foundation for Science and Technology. The authors have no conflicts of interest.info:eu-repo/semantics/publishedVersio