RESUMO
Netherton's syndrome is a rare autosomal recessive disorder caused by mutations of the SPINK5 gene, which encodes the lymphoepithelial Kazal-type-related inhibitor (LEKTI) protein. We observed microstructural changes and detected LEKTI activity and SPINK5 gene mutation in three Chinese patients with Netherton's syndrome. Decreased LEKTI activity was found in the skin of patients. Lamellar bodies and foci of electron-dense material were detected in the intercellular spaces of the stratum corneum. A novel homozygous splicing mutation of 1430+2 T-->G was found in the SPINK5 gene in one proband. No mutation was found in the other family.
Assuntos
Cromossomos Humanos Par 5/genética , Regulação da Expressão Gênica/genética , Eritrodermia Ictiosiforme Congênita/genética , Mutação/genética , Proteínas Secretadas Inibidoras de Proteinases/genética , Adulto , Genótipo , Humanos , Eritrodermia Ictiosiforme Congênita/patologia , Masculino , Linhagem , Inibidor de Serinopeptidase do Tipo Kazal 5 , SíndromeRESUMO
Scanning electron microscopic observations on the structure of the body surface of various larval stages and young adults of Angiostrongylus cantonensis were made. The mouth opening of the first and second stage larvae closes in "Y" form until well developed young adult stage. There are two rows of 6 sensory papillae each around the mouth. With development of the worm, the papillae of the outer row gradually degenerated and could hardly be seen in adult worms. A pair of amphidial pores was present on the external side of lateral papillae of the inner row, being conspicuous in the fourth-stage larvae. There was one excretory pore on the ventral side of the anterior end. The copulatory bursa of the male worms began to develop in the third stage larvae and became well developed in the 25-day young adults. The processes of the development of copulatory bursa were described. The gonopore could be seen in the female worm as early as in the first-stage larvae but the anal pore appeared only in the fourth-stage larvae, both of them did not develop completely until the young adult stage of 11 day old (Figs. 1-18).
Assuntos
Angiostrongylus/ultraestrutura , Angiostrongylus/classificação , Animais , Feminino , Larva/ultraestrutura , Masculino , Microscopia Eletrônica de Varredura , RatosRESUMO
Scanning electron microscopic observations were made on adult Angiostrongylus cantonensis, The apex of the head has a round mouth with two rows of 6 sensory papillae each around it. The papillae of the outer row are more rudimentary and inconspicuous. A pair of amphidial pores are visible on the external side of lateral papillae of the inner row. The surface of the body is covered with a circular striated cuticle and short longitudinal ridges lying between two circular cuticles. The two copulatory spicules at the posterior end of male worms are obviously different in morphology. According to their morphological characteristics, we named them "tube-like" copulatory spicule and "grooves-like" copulatory spicule. The former, when enclosed in the latter, appeared as a single one. The copulatory bursa of the males and the structures of the tail part of the female are also described.
