Refractive index measurements of solid parahydrogen.

Solid para-H2 is a promising gain medium for stimulated Raman scattering, due to its high number density and narrow Raman linewidth. In preparation for the design of a cw solid hydrogen Raman laser, we have made the first measurements, to our knowledge, of the index of refraction of a solid para-H2 crystal, in the wavelength range of 430-1100 nm. For a crystal stabilized at 4.4 K, this refractive index is measured to be n(p-H2)=1.130±0.001 at 514 nm. A slight, but significant, dependence on the final crystal-growth temperature is observed, with higher n(p-H2) at higher crystal-growth temperatures. Once a crystal is grown, it can be heated up to 10 K with no change in n(p-H2). The refractive index varies only slightly over the observed wavelength range, and no significant birefringence was observed.

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.

Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.

In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently, an imbalance in bile acid synthesis in a mouse model of NPC disease was linked to suppression of the P450 detoxification system and was corrected by UDCA treatment. UDCA (3α, 7ß-dihydroxy-5ß-cholanic acid), a hydrophilic bile acid, is used to treat various cholestatic disorders. In this report we summarise the findings from four independent cases of NPC, three with abnormal liver enzyme levels at baseline, that were subsequently treated with UDCA. The patients differed in age and clinical features, they all tolerated the drug well, and in those with abnormal liver function, there were significant improvements in their liver enzyme parameters.