Teste Repositóri
2014-01-01
Resultados de pesquisa
Foram encontrados 1.778 registos.
Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.
The occurrence of cerebrovascular disease in patients with human immunodeficiency virus
(HIV) infection has been reported mainly in advanced stages of the disease and was
generally associated with nonbacterial thrombotic endocarditis, opportunistic infections, or tumors, although in recent series a large number of cryptogenic strokes were found, probably related to HIV vasculopathy. Recently a population-based study reported a strong association between acquired immunodeficiency syndrome (AIDS) and both ischemic stroke and intracerebral hemorrhage, with an incidence of 0.2% per year. However, with the advent of highly active retroviral therapy (HAART)-causing immune restoration in HAARTtreated
patients and avoiding early death and leading to a lengthening of the disease
free-survival, an older population was created, which is at hi...
Multidrug and extensively drug resistant Mycobacterium tuberculosis are a threat to tuberculosis control programs. Genotyping methods, such as spoligotyping and MIRU-VNTR typing (Mycobacterial Interspersed Repetitive Units), are useful in monitoring potentially epidemic strains and estimating strain phylogenetic lineages and/or genotypic families. M. tuberculosis Latin American Mediterranean (LAM) family is a major worldwide contributor to tuberculosis (TB). LAM specific molecular markers, Ag85C(103) single nucleotide polymorphism (SNP) and RD(Rio) long-sequence polymorphism (LSP), were used to characterize spoligotype signatures from 859 patient isolates from Portugal. LAM strains were found responsible for 57.7% of all tuberculosis cases. Strains with the RD(Rio) deletion (referred to as RD(Rio)) were estimated to represent 1/3 of al...
OBJECTIVE: To estimate the prevalence of, the risk factors associated with, and the outcome of tracheostomy in a heterogeneous population of mechanically ventilated patients.
DESIGN: Prospective, observational cohort study.
SETTING: A total of 361 intensive care units from 12 countries.
PATIENTS: A cohort of 5,081 patients mechanically ventilated for >12 hrs.
INTERVENTIONS: None.
MEASUREMENTS AND MAIN RESULTS: A total of 546 patients (10.7%) had a tracheostomy during their stay in the intensive care unit. Tracheostomy was performed at a median time of 12 days (interquartile range, 7-17) from the beginning of mechanical ventilation. Variables associated with the performance of tracheostomy were duration of mechanical ventilation, need for reintubation, and neurologic disease as the primary reason of mechanical ventilation. The inte...
Involuntary rhythmic leg movements in childhood is an uncommon condition, the generators of which remain unknown. We report on a male 3 years of age with distinct features providing important clues concerning the location of one of these generators. At the age of 7 months, the previously healthy young male started with low frequency, rhythmic, and continuous (both during wakefulness and sleep) flexion/extension movements of the lower limbs. Movements interfered significantly with gait acquisition, and, despite normal cognitive development, he was able to walk only at age 2 years, 4 months. The neurologic examination revealed the absence of automatic stepping in the neonatal period, but was otherwise normal. A polygraphic electroencephalogram/electromyogram (EEG/EMG) recording, at the age of 2 years, 9 months, revealed rhythmic and sync...
O volvo gástrico define-se por uma rotação anómala do estômago sobre os seus eixos. Embora seja uma causa rara de oclusão, pode ter apresentação clinica de forma aguda ou crónica, com períodos de obstrução intermitente, sendo importante o reconhecimento desta patologia, no sentido de evitar graves complicações médicas e cirúrgicas. Assim, perante um volvo gástrico é imperativo um diagnóstico clinico e imagiológico correcto e precoce.
Com o presente trabalho, pretendemos através da recolha de exames fluoroscópicos contrastados do estômago, rever e ilustrar a classificação do volvo gástrico em organoaxial, mesenteroaxial ou misto.
As últimas décadas têm sido marcadas por enormes avanços nos meios de diagnóstico gastrointestinal, quer por estudos endoscópicos, quer por modalidades de imagem “cross-section”. Este constante avanço tecnológico, obriga assim a uma redefinição que se vive actualmente, nas indicações para a realização dos exames fluoroscópicos para estudo do tubo digestivo.
Efectivamente, o presente trabalho tem como base uma a recolha e análise descritiva dos exames fluoroscópicos do tubo digestivo realizados no Serviço de Imagiologia do Hospital Fernando Fonseca durante o período de 2004 a 2010.
Através desta recolha de dados foi possível concluir que o nosso serviço acompanha o panorama internacional, demonstrando um global declínio no número de exames fluoroscópicos realizados, bem como uma redefinição das indicações para estes, reconhecendo actu...
BACKGROUND AND OBJECTIVES: The diagnosis of acute kidney injury (AKI) is usually based on changes in serum creatinine, which is a poor marker of early renal dysfunction. The discriminative and predictive abilities of serum and urinary cystatin C were examined for the prediction of AKI.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In this prospective cohort study, serum and urinary cystatin C were serially measured in a heterogeneous group of patients (n = 616) presenting to a tertiary care emergency department. The primary outcome was AKI, classified according to RIFLE and AKIN criteria. The secondary outcome was an adjudication based on clinical criteria to AKI, prerenal azotemia, chronic kidney disease (CKD), and normal kidney function.
RESULTS: Patients were adjudicated to have AKI in 21.1%, prerenal azotemia in 25.8%, CKD in 2....
1. PROPOSTA:
Em parceria, os Serviços de Urgência Ginecológica e Obstétrica, Internamento de Obstetrícia e Medicina Física e Reabilitação, pretendem o alargamento do Curso “Preparação Para o Nascimento”, actualmente destinado aos colaboradores da Instituição, com a Implementação no Hospital Professor Doutor Fernando Fonseca, EPE dos cursos abaixo mencionados, destinados à mulher/casal/família da área de influência do Hospital:
• Curso de Preparação para o Nascimento (CPN)
• Curso de Recuperação Pós-parto (CRP)
• Curso de Técnicas de Massagem Infantil (TMI)
2. JUSTIFICAÇÃO:
Em Portugal, tem-se verificado ao longo dos últimos anos uma diminuição da taxa de natalidade, facto que se reflecte no decréscimo do número de partos a nível nacional e, concomitantemente, no Hospital Professor Doutor Fernando Fonseca, EPE (HFF).
A par des...
