Teste Repositóri
2014-01-01
Resultados de pesquisa
Foram encontrados 2.696 registos.
Os autores procederam ao estudo retrospectivo de 681 obesos, consultados num período de dois anos.
Vinte por cento eram crianças e, dos adultos, 87% eram do sexo feminino.
Vinte e quatro por cento dos adultos eram obesos desde a infância e 1/3 das mulheres relacionava o início da obesidade com a gravidez.
Foi encontrada uma elevada prevalência de Obesidade e Diabetes Mellitus nos antecedentes familiares.
Sessenta e dois por cento dos adultos incluía-se no grupo de médio risco e, em 300 doentes, havia complicações manifestas da obesidade.
Na avaliação final foi significativa a redução do grupo de alto risco.
OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients.
DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions.
STUDY SAMPLE:
A cohort of 264 Portuguese NSSHL patients.
RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. ...
17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life.
STUDY OBJECTIVE: The main aim of this study is to evaluate the impact of adolescent pregnancy in the future contraceptive choices. A secondary aim is to verify whether these choices differ from those made after an abortion.
DESIGN: Retrospective study.
SETTING:Adolescent Unit of a tertiary care center.
PARTICIPANTS:212 pregnant teenagers.
INTERVENTIONS: Medical records review.
MAIN OUTCOME MEASURES:Intended pregnancy rate and contraceptive methods used before and after pregnancy. For contraceptive choices after pregnancy we considered: Group 1 - teenagers who continued their pregnancy to delivery (n = 106) and Group 2 - the same number of adolescents who chose to terminate their pregnancy.
RESULTS: The intended pregnancy rate was 14.2%. Prior to a pregnancy continued to delivery, the most widely used contraceptive method was the ...
Allergic rhinitis is one of the most common clinical conditions in children; however, data regarding the safety of antihistamines in children with seasonal allergic rhinitis are limiting. To evaluate the safety and efficacy of fexofenadine in children with seasonal allergic rhinitis, data were pooled from three, double-blind, randomized, placebo-controlled, parallel-group, 2-week trials in children (6-11 year) with seasonal allergic rhinitis. All studies assessed fexofenadine HCl 30 mg b.i.d.; two studies included fexofenadine HCl at 15 and 60 mg b.i.d. Patients (and investigators) reported any adverse events during the trial. Physical examinations, including measurements of vital signs and laboratory tests, were performed. Efficacy assessments (total symptom score and individual symptom scores) were evaluated. Exposure to fexofenadine...
This year is the 10th anniversary of the European Academy of Allergy and Clinical Immunology (EAACI) Junior Members and Affiliates (JMAs). The aim of this review is to highlight the work and activities of EAACI JMAs. To this end, we have summarized all the initiatives taken by JMAs during the last 10 yr. EAACI JMAs are currently a group of over 2380 clinicians and scientists under the age of 35 yr, who support the continuous education of the Academy's younger members. For the past decade, JMAs enjoy a steadily increasing number of benefits such as free online access to the Academy's journals, the possibility to apply for Fellowships and the Mentorship Program, travel grants to attend scientific meetings, and many more. In addition, JMAs have been involved in task forces, cooperation schemes with other scientific bodies, organization of...
BACKGROUND: Abnormalities in serum phosphorus, calcium and parathyroid hormone (PTH) have been associated with poor survival in haemodialysis patients. This COSMOS (Current management Of Secondary hyperparathyroidism: a Multicentre Observational Study) analysis assesses the association of high and low serum phosphorus, calcium and PTH with a relative risk of mortality. Furthermore, the impact of changes in these parameters on the relative risk of mortality throughout the 3-year follow-up has been investigated.
METHODS:COSMOS is a 3-year, multicentre, open-cohort, prospective study carried out in 6797 adult chronic haemodialysis patients randomly selected from 20 European countries.
RESULTS:Using Cox proportional hazard regression models and penalized splines analysis, it was found that both high and low serum phosphorus, calcium and ...
