Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non-skeletal features is needed to improve patient care.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-012-9459-0) contains supplementary material, which is available to authorized users.

Detection of low-level mutations after imatinib resistance offers critical information to guide subsequent therapy selection. If an inappropriate kinase inhibitor is selected, there is a high risk of treatment failure with clonal expansion of the resistant mutant.

Long-wavelength HgCdTe heterostructures on silicon (100) substrates have been grown using metal-organic vapor phase epitaxy. Test diodes have been fabricated from this material using mesa technology and flip-chip bonding. We have demonstrated excellent resistance-area product characteristics for diodes with a 10.2μm cutoff wavelength. R0A values approaching 103Ωcm2 at 80K have been measured and the resistance-area product maintained above 102Ωcm2 at 1V reverse bias. Variable temperature R0A values correspond to expected generation-recombination loss mechanisms between 60 and 120K. Current-voltage characteristics of two diodes at opposite sides of an array indicate that a very uniform imaging long-wavelength infrared array could be fabricated from this material.