A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II).

BACKGROUND Moyamoya syndrome is a rare cerebrovascular condition caused by blockage of the arteries of the basal ganglia. The Japanese word "moyamoya" means "a puff of smoke" which describes the appearance of the collateral compensatory vessels that develop over time. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by microcephaly and short stature.

Rapid evolution of coordinated and collective movement in response to artificial selection.

Collective motion occurs when individuals use social interaction rules to respond to the movements and positions of their neighbors. How readily these social decisions are shaped by selection remains unknown. Through artificial selection on fish (guppies, ) for increased group polarization, we demonstrate rapid evolution in how individuals use social interaction rules.

Expression Vectors and Gene Fusions for the Directed Modification of the Carotenoid Biosynthesis Pathway in Mucor circinelloides.

Several fungal species, particularly some included in the Mucoromycotina, have been used to develop fermentation processes for the production of β-carotene. Oxygenated derivatives of β-carotene (xanthophylls) are desirable value-added products, and the preference by the market of carotenoids from biological sources has increased the research in different carotenoid-producing organisms. We currently use Mucor circinelloides f.

A Ras GTPase associated protein is involved in the phototropic and circadian photobiology responses in fungi.

Light is an environmental signal perceived by most eukaryotic organisms and that can have major impacts on their growth and development. The MadC protein in the fungus Phycomyces blakesleeanus (Mucoromycotina) has been postulated to form part of the photosensory input for phototropism of the fruiting body sporangiophores, but the madC gene has remained unidentified since the 1960s when madC mutants were first isolated. In this study the madC gene was identified by positional cloning.

Approach to the management of pregnancy in patients with pseudoxanthoma elasticum: a review.

Management of pregnancy in patients with rare diseases is often guided by incomplete knowledge because of a lack of high-quality case control studies or single-centre experience. Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that results in calcification of elastic fibres of the skin, retina, and arteries, leading to skin lesions, eventual central visual loss, and potential arterial insufficiency in most patients. It is due to mutations in ABCC6, which encodes the eponymous membrane transport protein.