Impact of Intravenous Trehalose Administration in Patients with Niemann-Pick Disease Types A and B.

BACKGROUND AND AIMS: Niemann-Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the SMPD1 gene, resulting in progressive pathogenic accumulation of lipids in tissues. Trehalose has been suggested as an autophagy inducer with therapeutic neuroprotective effects. We performed a single-arm, open-label pilot study to assess the potential efficacy of trehalose treatment in patients with NPA and NPB patients. METHODS: Five patients with NPD type A and B were enrolled in an open-label, single-arm clinical trial. Trehalose was administrated intravenously (IV) (15 g/week) for three months. The efficacy of trehalose in the management of clinical symptoms was evaluated in patients by assessing the quality of life, serum biomarkers, and high-resolution computed tomography (HRCT) of the lungs at the baseline and end of the interventional trial (day 0 and week 12). RESULTS: The mean of TNO-AZL Preschool children Quality of Life (TAPQOL) scores increased in all patients after intervention at W12 compared to the baseline W0, although the difference was not statistically significant. The serum levels of lyso-SM-509 and lyso-SM were decreased in three and four patients out of five, respectively, compared with baseline. Elevated ALT and AST levels were decreased in all patients after 12 weeks of treatment; however, changes were not statistically significant. Pro-oxidant antioxidant balance (PAB) was also decreased and glutathione peroxidase (GPX) activity was increased in serum of patients at the end of the study. Imaging studies of spleen and lung HRCT showed improvement of symptoms in two patients. CONCLUSIONS: Positive trends in health-related quality of life (HRQoL), serum biomarkers, and organomegaly were observed after 3 months of treatment with trehalose in patients with NPA and NPB. Although not statistically significant, due to the small number of patients enrolled, these results are encouraging and should be further explored.

Urticaria and lip fasciculation may be prodromal signs of brain malignancy.

The association of urticaria and cancer usually is seen with lymphoreticular system malignancies. Recalcitrant intra-nostril pruritus has been associated with fourth-ventricle tumors of the brain. Rarely, urticaria has been described with cancer of the lung, usually small-cell adenocarcinoma. We describe a girl who suffered with chronic urticaria for 3 months before lip fasciculation began to be observed. CT scan revealed a brain tumor adjacent to the cerebellum, which was diagnosed as astrocytoma grade II. Because of the location, the tumor was not operable, but after one course of radiotherapy, both the urticaria and lip fasciculation disappeared.

Cryotherapy as a treatment for psoriasis.

There are very few publications on the use of cryotherapy in the treatment of psoriasis. We performed an evaluation to determine its efficacy in small plaque psoriasis. We selected 63 patients who had a clinical diagnosis of chronic plaque-type psoriasis and and for each patient we evaluated two psoriatic plaques of almost the same size and severity on similar areas of the body. One plaque was sprayed with liquid nitrogen every other day for two weeks and the other plaque was untreated as a control. Complete resolution of the plaque occurred in four patients (6.35 %), mild to moderate resolution was evident in 19 cases (30.1 %), and no improvement occurred in 40 patients (63.5 %). Only one complication, superimposed infection, occurred. Cryotherapy may mediates mild resolution of plaques by inducing normal re-epithelization following the physical destruction of the lesions via a reverse Koebner phenomenon. Our findings suggest that cryotherapy is safe to use in the treatment of small-plaque psoriasis but that its efficacy is limited.