RESUMEN
Miliin, a new thiol-dependent serine protease purified from the latex of Euphorbia milii possesses a molecular weight of 79 kDa, an isoelectric point of 4.3 and is optimally active at 60 degrees C in the pH range of and 7.5-11.0. Activity tests indicate that milliin is a thiol-dependent serine protease.
Asunto(s)
Euphorbia/enzimología , Serina Endopeptidasas/aislamiento & purificación , Electroforesis en Gel de Poliacrilamida , Concentración de Iones de Hidrógeno , Focalización Isoeléctrica , Punto Isoeléctrico , Cinética , Látex/química , Peso Molecular , Serina Endopeptidasas/química , Serina Endopeptidasas/metabolismo , TemperaturaRESUMEN
We report on a 6-year-old Brazilian girl with hypotrichosis, dental alterations, onychodysplasia, microcephaly, mental retardation, precocious puberty, abnormal palmar creases, and other findings. This appears to be the first report of this multiple congenital anomalies/mental retardation (MCA/MR) syndrome which is probably due to an autosomal recessive gene.
Asunto(s)
Displasia Ectodérmica/genética , Microcefalia/genética , Niño , Femenino , Cabello/anomalías , Humanos , Discapacidad Intelectual/genética , Uñas Malformadas , Pubertad Precoz/genética , Síndrome , Anomalías Dentarias/genéticaRESUMEN
Short-term cultures of a collagenase disaggregated ameloblastoma previously diagnosed as an adenoid cystic carcinoma of the salivary gland were shown by cytogenetic analysis to have the clonal karyotype 45,XY,del(10)(p12),-22. The data may indicate that the loss of genes of chromosome 22, as well as of 10p, could be a critical event in the evolutionary pattern of odontogenic neoplasias.
Asunto(s)
Ameloblastoma/genética , Neoplasias Maxilomandibulares/genética , Adulto , Ameloblastoma/patología , Carcinoma Adenoide Quístico/patología , Humanos , Neoplasias Maxilomandibulares/patología , Masculino , Neoplasias de las Glándulas Salivales/patologíaRESUMEN
Clinical details of a male child with the karyotype 46,XY,-4,+der(4),t(4;12) (p16;q24.31)mat are reported and compared with those of other known cases of partial trisomy of the distal region of 12q. This condition is apparently associated with mental and psychomotor retardation, widely spaced eyes, flat nasal bridge, low set ears, down-turned mouth, micrognathia, loose skin at the nape, widely spaced nipples, simian creases, clinodactyly, abnormalities of the genitourinary system, alterations in the sacrococcygeal region, and deformities of the lower limbs. In the majority of the reported cases, the break-point was in the 12q24 region and resulted from adjacent 1 segregation of a maternal balanced translocation.