RESUMO
The fortieth author's name was listed incorrectly. The correct presentation is A Keski-Rahkonen.
RESUMO
Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10-6), and rs7700147, an intergenic variant (P=2.93 × 10-5). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes.
Assuntos
Anorexia Nervosa/genética , Moléculas de Adesão Celular/genética , Exoma/genética , Família , Feminino , Proteínas Ligadas por GPI/genética , Predisposição Genética para Doença/genética , Variação Genética/genética , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Íntrons/genética , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , População Branca/genéticaRESUMO
Hydroxyurea is an antitumour agent used most commonly to treat myeloproliferative disorders. We present a clinical observation illustrating different cutaneous side effects susceptible to occur during a long-term treatment by hydroxyurea : leg ulceration, oral ulcer and spinocellular carcinoma. This clinical observation is completed by a review of the literature published on the cutaneous side effects of hydroxyurea treatment.
Assuntos
Antineoplásicos/efeitos adversos , Hidroxiureia/efeitos adversos , Úlcera da Perna/induzido quimicamente , Úlceras Orais/induzido quimicamente , Idoso , Antineoplásicos/uso terapêutico , Carcinoma/induzido quimicamente , Humanos , Hidroxiureia/uso terapêutico , Masculino , Transtornos Mieloproliferativos/tratamento farmacológico , Neoplasias Cutâneas/induzido quimicamenteRESUMO
The ionic regulation of the haemolymph of larvae of Aeshna cyanea (Müller) was studied by means of two types of experiments. In the first the change in internal ionic composition was followed as a function of the time spent in a given experimental medium. These experiments led to the conclusion that: 1. the haemolymph composition does not change when larvae are starved in tap water for 10 days; 2. the haemolymph ionic concentrations (Na and Cl) have initial marked increase when the animals are kept in hypertonic media of diluted sea water; after 80 hours however, both concentrations stay constant. In a second series of experiments the internal ionic concentration was compared to a series of different concentrations of external media. From this, the relation between the internal and external ionic concentration was elaborated : in hypotonic media the internal Na and Cl concentrations stay constant, in hypertonic media there is a parallelism between the increase of the external concentration and haemolymph concentration, the internal Na concentration being always slightly hypertonic, the Cl concentration markedly hypotonic. Finally, when larvae are placed in glass distilled water, the internal Na and Cl concentrations begin to decrease after 60 hours.
