Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.

Fabry disease (FD, α-galactosidase A deficiency) is a rare, progressive, complex lysosomal storage disorder affecting multiple organ systems with a diverse spectrum of clinical phenotypes, particularly among female patients. Knowledge of its clinical course was still limited in 2001 when FD-specific therapies first became available and the Fabry Registry (NCT00196742; sponsor: Sanofi) was initiated as a global observational study. The Fabry Registry has now been operational for over 20 years, overseen by expert Boards of Advisors, and has collected real-world demographic and longitudinal clinical data from more than 8000 individuals with FD.

Splenic abscess complicating infective endocarditis: three case reports.

We present three case-reports of splenic abscess in patients who were initially diagnosed with bacterial endocarditis. In all cases the diagnosis of splenic abscess was based on the findings of abdominal CT scan or MRI. All patients were treated by laparotomy and splenectomy.

[A patient with vague inguinal complaints due to a leiomyosarcoma of the inferior caval vein].

A 64-year-old male presented with progressive right-sided inguinal pain radiating to the right flank and lower back. He had noticed an infrequent altered sensibility on frontal parts of his right upper leg. Physical examination demonstrated the presence of a process in the lower abdomen.

dCtBP-dependent and -independent repression activities of the Drosophila Knirps protein.

Transcriptional repressor proteins play essential roles in controlling the correct temporal and spatial patterns of gene expression in Drosophila melanogaster embryogenesis. Repressors such as Knirps, Krüppel, and Snail mediate short-range repression and interact with the dCtBP corepressor. The mechanism by which short-range repressors block transcription is not well understood; therefore, we have undertaken a detailed structure-function analysis of the Knirps protein.

A study comparing biopharmaceutic characteristics of four once daily controlled release diltiazem preparations.

In the present study we have compared the steady state biopharmaceutic characteristics of four diltiazem once daily controlled release capsules: Mono-Tildiem LP 300 (300 mg), Adizem XL (300 mg), Cardizem (300 mg) and Dilacor (240 mg). Sixteen healthy male volunteers (aged 22.9 +/- 3.

Pharmacokinetics and pharmacodynamics of a single dose of recombinant human growth hormone after subcutaneous administration by jet-injection: comparison with conventional needle-injection.

The pharmacokinetics and pharmacodynamics of recombinant human growth hormone (rhGH) were studied after a single subcutaneous dose given by jet-injection, and have been compared with the results obtained after conventional needle-injection. Twelve healthy male volunteers completed an open label, randomised, two-way crossover study, with a 7-day washout period between the two single sc doses. Pharmacokinetic parameters were derived from rhGH concentrations in blood samples collected regularly over 24 h after dosing on Day 1 of each period.

Randomised crossover comparison of adrenal suppressive effects of dermal creams containing glucocorticosteroids.

To compare the effect of multiple dose treatment with fatty cream 0.1% hydrocortisone-17-butyrate (LLFC) and fatty cream 0.1% mometasone furoate (EFC), under occlusion on adrenal function, we performed an open label, randomised, two-period crossover study, lasting 30 days, in 12 healthy, male volunteers (age 18-45 y).