Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations.

Acute intermittent porphyria (AIP) is a very rare autosomal dominant disorder with low penetrance. Mutations in the gene of the porphobilinogen deaminase (PBG-D), also called hydroxymethylbilane synthase (HMBS), cause a partial deficiency of this enzyme of the heme biosynthetic pathway. Overstimulation of heme biosynthesis causes clinical symptoms.

[75-Se-labeled bile acid analog absorption in various gastrointestinal diseases using a whole body counter].

Aim: It is possible to detect disturbances of bile acid absorption using a whole body counter after administration of Se-75 labelled bile acid analogues. We scrutinized the benefit of a modification of the test method.

Methods: We investigated 77 patients with different forms of a gastrointestinal disease.

[Endemic sprue: its first diagnosis based on bleeding complications].

History And Clinical Findings: A 47-year-old man without previously known illness was admitted to hospital because of acute haematomas in the legs: the history revealed no cause. The pale-looking patient reported having large and foul-smelling stools once or twice daily. There were large haematomas and swellings on both legs.

[Symptomatic therapy with famotidine in non-erosive gastro-esophageal reflux. Results of an open multicenter study].

180 patients suffering from frequent heartburn and endoscopically normal oesophageal mucosa or mild non-erosive oesophagitis entered an open, multicentre study to evaluate the 6-week safety profile and efficacy on symptom relief of famotidine (CAS 76824-35-6, Pepdul mite), a potent and long-acting H2-receptor antagonist. By week 6 the cumulative percentage of patients with defined response, that is complete relief of heartburn in 5 days and only mild discomfort in the remaining 2 days of a week, reached 68.9%, whereas the cumulative percentage of patients with complete relief of heartburn within a week reached 52.

[Absorption and renal elimination of bismuth from 6 different bismuth salts after a single dosage].

The absorption and renal excretion of bismuth from seven pharmaceutical bismuth preparations was studied in five healthy volunteers. Following a single oral dose of colloidal bismuth subcitrate (CBS), basic bismuth salicylate (BSS), basic bismuth gallate (BSG), basic bismuth carbonate (BSC), bismuth aluminate (BA) and two different basic bismuth nitrate (BSN) preparations, ingested one hour prior to the breakfast, containing 350 mg bismuth in all but one bismuth subnitrate compound, the latter was given in a 1480 mg dose laid on granulated gum karaya, the bismuth serum concentrations (0 to 6 h) and urinary excretion (for 2 days) were measured. Slight amounts of bismuth were rapidly absorbed in all experiments with low transient mean peak concentrations between 0.