RESUMO
Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals. The disease was mapped to chromosome 4p16 in nine Amish subpedigrees and single pedigrees from Mexico, Ecuador and Brazil. Weyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder with a similar but milder phenotype, has been mapped in a single pedigree to an area including the EvC critical region. We have identified a new gene (EVC), encoding a 992-amino-acid protein, that is mutated in individuals with EvC. We identified a splice-donor change in an Amish pedigree and six truncating mutations and a single amino acid deletion in seven pedigrees. The heterozygous carriers of these mutations did not manifest features of EvC. We found two heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis and another in a father and his daughter, who both have the heart defect characteristic of EvC and polydactyly, but not short stature. We suggest that EvC and Weyers acrodental dysostosis are allelic conditions.
Assuntos
Cromossomos Humanos Par 4/genética , Disostoses/genética , Síndrome de Ellis-Van Creveld/genética , Etnicidade/genética , Genes , Proteínas de Membrana/genética , Anormalidades Dentárias/genética , Processamento Alternativo , Sequência de Aminoácidos , Substituição de Aminoácidos , Sequência de Bases , Brasil/epidemiologia , Mapeamento Cromossômico , Nanismo/genética , Síndrome de Ellis-Van Creveld/etnologia , Etiquetas de Sequências Expressas , Feminino , Dedos/anormalidades , Genes Dominantes , Cardiopatias Congênitas/genética , Heterozigoto , Humanos , Incisivo/anormalidades , Zíper de Leucina/genética , Masculino , Proteínas de Membrana/fisiologia , Repetições de Microssatélites , Dados de Sequência Molecular , Linhagem , Pennsylvania/epidemiologia , Fenótipo , Mutação Puntual , Polimorfismo Conformacional de Fita Simples , Proteínas , Recombinação Genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , SíndromeRESUMO
Independent rankings of humor and aggressiveness were obtained for sets of cartoons drawn randomly from two different magazines. The correlation of median humor and median aggressiveness rankings ranged from .49 to .90 in six studies involving six different sets of cartoons and six different groups of subjects, including children and adults, high and low socioeconomic status (SES) individuals, and native- and foreign-born individuals. This correlation is consistent with Freudian, arousal, and superiority theories of humor. Another prediction of Freudian theory, that high-SES subjects should be more appreciative of aggressive humor than low-SES subjects, was not supported.
Assuntos
Agressão/psicologia , Senso de Humor e Humor como Assunto , Adolescente , Adulto , Nível de Alerta , Comparação Transcultural , Etnicidade/psicologia , Feminino , Teoria Freudiana , Humanos , Masculino , Pessoa de Meia-Idade , Teoria Psicológica , Porto Rico , Fatores Socioeconômicos , Estados Unidos/etnologiaRESUMO
Red cell cation transport has been studied in normotensive and essential hypertensive groups of white and black (West Indian) subjects. In vitro uptake of the potassium analogue 86Rb was measured during short-term incubation of erythrocytes in the presence and absence of ouabain. Sodium pump activity was significantly greater (p less than 0.0005) in white hypertensives than in white normotensives. No such difference was observed between black hypertensive and normotensives. 86Rb uptake was significantly lower in black than in white normotensive individuals; this racial differences was not due to a difference in sodium pump activity.
Assuntos
Eritrócitos/metabolismo , Hipertensão/sangue , Sódio/sangue , Adulto , Negro ou Afro-Americano , Idoso , Humanos , Pessoa de Meia-Idade , Ouabaína/farmacologia , Radioisótopos , Rubídio , Índias Ocidentais , População BrancaRESUMO
The capacity of a peptide isolated from hypophysis (HTH) to affect liver function is further supported by the results of pilot experiments on lipid and protein metabolism. Administration of purified peptide to rats induces reduction in plasma proteins and increase in plasma cholesterol with an abnormal free/esterifield cholesterol ratio in liver. Cholesterol in bile and bile volume excretion increase above normal and the concentration of other substances known to be modified by liver activity shows values different to normals.
Assuntos
Metabolismo dos Lipídeos , Fígado/fisiologia , Peptídeos/farmacologia , Hormônios Hipofisários/farmacologia , Proteínas/metabolismo , Glândulas Suprarrenais/fisiologia , Animais , Coagulação Sanguínea/efeitos dos fármacos , Masculino , Tamanho do Órgão , Hipófise/fisiologia , Coelhos , Ratos , Estimulação Química , Fatores de TempoRESUMO
The capacity of a peptide isolated from hypophysis (HTH) to affect liver function is further supported by the results of pilot experiments on lipid and protein metabolism. Administration of purified peptide to rats induces reduction in plasma proteins and increase in plasma cholesterol with an abnormal free/esterifield cholesterol ratio in liver. Cholesterol in bile and bile volume excretion increase above normal and the concentration of other substances known to be modified by liver activity shows values different to normals.
RESUMO
The capacity of a peptide isolated from hypophysis (HTH) to affect liver function is further supported by the results of pilot experiments on lipid and protein metabolism. Administration of purified peptide to rats induces reduction in plasma proteins and increase in plasma cholesterol with an abnormal free/esterifield cholesterol ratio in liver. Cholesterol in bile and bile volume excretion increase above normal and the concentration of other substances known to be modified by liver activity shows values different to normals.