ABSTRACT
X-linked isolated lissencephaly sequence (XLIS) and subcortical band heterotopia (SBH) are allelic disorders caused by mutations in the doublecortin (DCX) gene. This genetic analysis of seven families revealed four novel mutations in the DCX gene. The authors detected a high rate of somatic mosaicism in male and female patients with variable penetrance of bilateral SBH including nonpenetrance in a heterozygous woman. In addition, the authors implemented prenatal diagnosis in a family with SBH/XLIS.
Subject(s)
Brain Diseases/genetics , Choristoma/genetics , Microtubule-Associated Proteins , Mosaicism/diagnosis , Nervous System Malformations/genetics , Neuropeptides/genetics , Penetrance , Adult , Brain Diseases/complications , Brain Diseases/diagnosis , Cell Movement/genetics , Child , Choristoma/complications , Choristoma/diagnosis , Chromosomes, Human, X/genetics , DNA Mutational Analysis , Doublecortin Domain Proteins , Doublecortin Protein , Exons , Female , Heterozygote , Humans , Infant , Magnetic Resonance Imaging , Male , Mutation , Nervous System Malformations/complications , Nervous System Malformations/diagnosis , Pedigree , Phenotype , Polymorphism, Single-Stranded Conformational , Sex FactorsABSTRACT
The influence of 4 weeks of treatment with the prostaglandin E1 analogue, rioprostil, 300 micrograms b.i.d., or placebo, on gastric endocrine function is tested in healthy male volunteers. Basal serum gastrin levels and postprandial gastrin output are unchanged after treatment with rioprostil. Similarly, plasma pancreatic polypeptide levels are unaffected. Antral gastrin tissue concentrations as well as antral somatostatin concentration and volume densities of antral G-cells and D-cells are unchanged. Neither basal nor pentagastrin-stimulated gastric acid secretion after rioprostil therapy differ from pretreatment values. Rioprostil, given in a dose of 100 micrograms b.i.d. to rats for 1 week significantly increases antral mucosal height but has no influence on the mucosal concentrations and cell densities of the gastric peptides, gastrin and somatostatin. It is concluded that rioprostil in the dose used does not affect the endocrine stomach after 4-weeks' administration at a dose of 300 micrograms b.i.d.
Subject(s)
Anti-Ulcer Agents/pharmacology , Endocrine Glands/drug effects , Gastric Mucosa/drug effects , Prostaglandins E/pharmacology , Adult , Animals , Double-Blind Method , Female , Gastrins/metabolism , Humans , Male , Pancreatic Polypeptide/metabolism , Prostaglandins, Synthetic/pharmacology , Rats , Rats, Inbred Strains , Rioprostil , Somatostatin/metabolism , Time FactorsABSTRACT
Case report of arthrogryposis multiplex congenita with histologically proved neutrogene atrophy of muscles. The also existing reduction deformities of the limbs, showing aplasia and hypoplasia of phalanges may hypothetically be of neuropathic origin.
