Congenital myopathies: characteristic and subtypes in Hong Kong

This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an underlying diagnosis is often challenging. This is the first congenital myopathy case series in Hong Kong. A total of 15 patients have been diagnosed to have congenital myopathies with 11 patients had the genetic mutations being identified (4 patients had RYR1 mutations, 3 patients had ACTA1 mutations, 2 patients had KLHL40 mutations, 1 patient had MTM1 mutation and 1 patient had DNM2 mutation).postprin

Human oviductal cells produce high molecular weight factor(s) that improves the development of mouse embryo

The coculture effects of human oviductal cells on mouse embryo development in vitro were studied. Pronuclear stage mouse zygotes were cocultured with different cell types, or then cultured either in medium alone (control), spent medium from oviductal cell culture (conditioned medium) or high molecular weight fractions ( > 10 and > 100 kDa) of the conditioned medium (reconstituted medium). Embryotrophic activities were compared between these groups in terms of percentage of morula and blastocyst formation, and cell count at the blastocyst stage. The mouse embryos developed better in oviductal cell coculture than in fibroblast coculture and medium alone culture. Conditioned medium and its reconstituted medium also provided a significant enhancement of embryo development in vitro when compared with the control medium culture, suggesting the production of high molecular weight embryotrophic factor(s) by the oviductal cells. The high molecular weight embryotrophic activity accumulated with the duration of conditioning could be serially diluted, and was abolished by heat or trypsin treatment. Replacing bovine serum albumin with polyvinyl alcohol in the culture medium did not affect the production of this high molecular weight embryotrophic activity by oviductal cells.link_to_subscribed_fulltex

Partial purification of embryotrophic factors from human oviductal cells

Embryotrophic factors from human oviductal cells were partially purified by liquid chromatographic methods. The conditioned medium from human oviductal cell culture was fractionated successively by concanavalin A (Con-A) affinity chromatography, ion-exchange chromatography and gel filtration. The presence of the embryotrophic activity in the eluates was determined by the stimulatory effects on the development of mouse embryos in vitro. The fraction that did not bind to the lectin Con-A possessed no embryotrophic activity. Ion-exchange chromatography separated the glycoproteins that bound to Con-A into five fractions. Three of them significantly enhanced blastulation as well as conceptus formation. Gel filtration further separated these embryotrophic fractions into five fractions. Three of them with molecular weights of 154 ± 1, 164 ± 0.2 and 207 ± 0.3 kDa significantly stimulated blastulation of mouse embryos. The results of this study demonstrated that several embryotrophic factors with different biochemical properties contributed to the embryotrophic effect of the human oviductal cell/mouse embryo co-culture system.published_or_final_versio

Partial purification of high molecular weight embryotrophic factors from human oviductal cells

Abstrac