Search Results - (Author, Cooperation:E. Virolainen)

2011-08-27

American Association for the Advancement of Science (AAAS)

0036-8075

1095-9203

Biology

Chemistry and Pharmacology

Computer Science

Medicine

Natural Sciences in General

Physics

Codon ; Exons ; Female ; Gene Expression Profiling ; Humans ; INDEL Mutation ; Introns ; Leiomyoma/*genetics/metabolism ; Mediator Complex/*genetics ; Mutation ; Mutation, Missense ; Signal Transduction ; Uterine Neoplasms/*genetics/metabolism

1365-2133

Blackwell Publishing Journal Backfiles 1879-2005

Medicine

Congenital ichthyoses are a group of heterogeneous disorders of cornification. Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis. Ultrastructurally, ARCI is classified into four groups: ichthyosis congenita (IC) types I–IV. The genetic background of the ARCI disorders is heterogeneous, but only one disease gene, transglutaminase 1, has been detected so far. We describe six patients with severe congenital ichthyosis from six different Scandinavian families. They could not be classified ultrastructurally into the four IC groups because of atypical findings of electron microscopy. These included abnormal lamellar bodies, alterations in keratohyalin, remnant organelles and lipid inclusions in the upper epidermal cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. Ichthyosis was usually accentuated in the scalp and four patients had clumped fingers and toes. None of the patients carried the transglutaminase 1 mutation. We conclude that ultrastructural findings resembling those detected in previous HI cases (type 1 and 2) can also be found in patients who do not have classic clinical features of that rare ichthyosis. This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity.

Electronic Resource

1434-4726

Alcohol ; Vertigo ; Nystagmus ; Alkohol ; Schwindel

Springer Online Journal Archives 1860-2000

Medicine

Zusammenfassung Bei 20 jungen Versuchspersonen wurden optokinetischer, Lage-, per- und postrotatorischer Nystagmus vor sowie 2, 4 und 6 Std nach Alkoholgenuß registriert. Die Resultate zeigen, daß die objektiv meßbaren Veränderungen nicht zum Zeitpunkt der höchsten Blutalkoholkonzentration am größten sind, sondern erst 6 Std nach Aufnahme des Alkohols. Dies besagt, daß die Zerfallsprodukte des Alkohols eine wichtige Rolle bei alkoholinduzierten Vestibularisstörungen spielen.

Summary The optokinetic, horizontal, per- and postrotatoric nystagmus was recorded before the consumption of alcoholic beverages by 20 young test persons as well as 2, 4, and 6 h later. The results showed that the most evident alterations cannot be recorded during the highest blood alcohol concentration but only 6 h after the consumption of alcohol. It was evaluated that the decomposition products of alcohol provoked the vestibular disorders.

Electronic Resource