Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study

BACKGROUND Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. In order to improve health care of FD-patients, knowledge of its predictors is important. The aim of our study was to evaluate health-related quality of life (HrQol) in FD and to identify its independent determinants by exploring a wide range of demographic, social and clinical parameters. RESULTS In this cross-sectional multicenter study, 135 adult patients with FD were recruited at three specialized European centers in Germany and Switzerland. Demographics, social status and clinical parameters as well as data on HrQol (EQ5D, EQ VAS) and depression were collected by means of self-reporting questionnaires and confirmed by medical records. HrQol and its predictors were evaluated by univariate and multivariate regression analyses. The study population consisted of 78 female and 57 male FD patients (median age 48 yrs) of whom 80.7% (N = 109) were on enzyme replacement therapy (ERT) and 10.4% (N = 14) were on chaperone treatment. Univariate analysis revealed various factors reducing HrQol such as age > 40 years, classic phenotype, organ involvement (kidney and heart disease, stroke/transient ischemic attack (TIA), gastrointestinal disturbances), depression, and burning limb pain. However, only the following factors were identified as independent predictors of decreased HrQol: classic phenotype, kidney and heart disease, stroke/TIA, depression, and burning limb pain. ERT and chaperone therapy were independent determinants of increased HrQol. CONCLUSIONS Modifiable factors, such as burning limb pain and depression, identified as independent predictors of HrQol-deterioration should be addressed in programs aiming to improve HrQol in FD. A multidisciplinary approach is essential in FD-patients since diverse organ involvement prominently compromises HrQol in affected patients. Our findings showed that the classic phenotype is a strong predictor of worsening HrQol

Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease

To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex) B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-GM2 levels in the brain and plasma in Sandhoff mice were apparently increased compared with those in wild-type mice, and they decreased on intracerebroventricular administration of the modified Hex B. The lyso-GM2 levels in plasma of patients with Tay-Sachs disease and Sandhoff disease were increased, and the increase in lyso-GM2 was associated with a decrease in Hex A activity. Lyso-GM2 is expected to be a potential biomarker of Tay-Sachs disease and Sandhoff disease

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Not AvailableThe effect of methyl farnesoate (MF) administration on the vitellogenesis of the penaeoidean shrimp, Sicyonia ingentis, was studied. The short- and long-term treat ment e¡ects as well as the e¡ect of two MF injection re gimens (0.1 and 1.0 mg MF/injection) were evaluated. The studies were also carried out to understand the pat tern of vitellogenesis in eyestalk ablated adult and juve nile shrimps. Acombination of endpoints, haemolymph vitellogenin (Vg) levels, gonadosomatic index (GSI) and histology, was used to study the e¡ect of these treat ments. The GSI increased in all the MF-treated shrimp compared with the control shrimps. Although haemo lymphVg levels declined over the experimental period in all the treatments, the Vg levels decreased signi¢- cantly only in the short-term treatment with1.0 mg MF. Similarly, haemolymph protein level also declined over the experimental period in all the treatment groups. However, except in the long-term treatment with 0.1 mg MF, all treatments showed a signi¢cant decrease in haemolymph protein level. Conversely, in all eyestalk ablated adults and juveniles, haemolymphVg, total pro tein and GSI increased over the experimental period, all of which were higher than the concurrent control. The discrepancy in the vitellogenic pattern between MF treated and eyestalk ablated shrimp was possibly due to the di¡erence in the ovarian phase of the initial con trol. Although unilateral eyestalk ablation failed to in duce vitellogenesis in juveniles, bilateral ablation induced vitellogenesis, which indicates that juveniles are competent to undergo vitellogenesis.Not Availabl

Regional Differences in Methyl Farnesoate Production by the Lobster Mandibular Organ

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