Hereditární hemoragická teleangiektázie neboli morbus Rendu‑Osler‑Weber je fibrovaskulární dysplazie s autozomálně dominantní dědičností charakteristická přítomností teleangiektázií a arteriovenózních malformací kůže, sliznic a vnitřních orgánů. Plicní arteriovenózní malformace jako zdroj septických embolů mohou zapříčinit vznik mozkového abscesu, který tak bývá prvním a často jediným projevem heriditární hemoragické teleangiektázie. V práci jsou prezentovány tři kazuistiky pacientů trpících touto chorobou, kde prvním a závažným příznakem byl vzniklý mozkový absces. Protože se jedná o relativně vzácné onemocnění, nebývá vždy zvažováno v rámci diferenciální diagnostiky a tím pádem ani diagnostikováno. U každého pacienta s mozkovým abscesem je nezbytné na toto onemocnění pomýšlet a v případě podezření je nutné jej řádně vyšetřit. Při verifikované plicní arteriovenózní malformaci je třeba ji ošetřit a zabránit tak vzniku recidivujících mozkových abscesů. Péče o tyto pacienty je komplexní a multioborová., Hereditary hemorrhagic telangiectasia or Rendu‑Osler‑Weber disease is an autosomal‑dominant disorder that results in fibrovascular dysplasia and is characterized by telangiectases and arteriovenous malformation of the skin, mucosa and viscera. Pulmonary arteriovenous malformations as a source of septic emboli may give rise to brain abscess that so often is the first and only clinical manifestation of hereditary hemorrhagic telangiectasia. Three cases of patients suffering from this disease with brain abscess as the first and serious symptom are presented. Since this is a relatively rare disease, it is not always considered in the differential diagnosis and thus not diagnosed. This disease has to be considered in patients with brain abscess and, in case of a suspicion, it must be properly examined. When pulmonary arteriovenous malformation is verified, it has to be treated in order to prevent recurrent brain abscesses. Care of these patients should be comprehensive and multidisciplinary. Key words: hereditary hemorrhagic telangiectasia – Rendu-Osler-Weber disease – brain abscess – arteriovenous malformation – epistaxis – endoglin The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers., and G. Hanoun, V. Vybíhal, M. Sova, J. Boudný, T. Svoboda, M. Smrčka
The neurotransmitter serotonin has been critically implicated in the pathogenesis of several mental disorders. The serotonin transporter (5-HTT) is a key regulator of serotonergic neurotransmission and its genetic variability is associated with increased risk of psychopathology. One well known polymorphic locus in the 5-HTT gene affecting its expression is a tandem repeat in the promoter region (5-HTTLPR). It has been reported that 5-HTT is functionally coupled with the neuronal nitric oxide synthase (NOS1 or nNOS), an enzyme catalyzing the production of nitric oxide (NO). We have previously demonstrated that a tandem repeat polymorphism in the promoter of NOS1 exon 1f (Ex1f-VNTR) is associated with sensorimotor gating, a marker of inhibitory processing and a well-established endophenotype of several neuropsychiatric disorders. Here we investigated the combined genetic effects of NOS1 Ex1f-VNTR and 5-HTTLPR on sensorimotor gating, measured by prepulse inhibition (PPI) of the acoustic startle reflex, in 164 healthy adults. We found no evidence for the interaction between NOS1 Ex1f-VNTR and 5-HTTLPR on PPI. PPI was associated with NOS1 Ex1f-VNTR, but not 5-HTTLPR. Our data suggest that while NOS1 plays a role in sensorimotor gating, the nitrergic pathway of gating regulation does not involve the action of 5-HTT.
The purpose of this study was to determine if there is flowmediated vasodilation of the femoral artery in response to progressive increases in flow within a physiological range observed in the in vivo experiments. Femoral artery blood flow was determined in conscious rabbits (n=5) using chronically implanted flowprobes. Resting blood flow was 8.3±0.6 ml/min and increased to 39.9±5.4 ml/min during high intensity exercise. Femoral arteries (n=12, 1705±43 μm outer diameter) harvested from a separate group of rabbits were mounted on cannulas and diameter was continuously monitored by video system. Functional integrity of the endothelium was tested with acetylcholine. The arteries were set at a transmural pressure of 100 mm Hg and preconstricted with phenylephrine to 73±3 % of initial diameter. Using a roller pump with pressure held constant, the arteries were perfused intraluminally with warmed, oxygenated Krebs' solution (pH=7.4) over a physiological range of flows up to 35 ml/min. As flow increased from 5 ml/min to 35 ml/min, diameter decreased significantly (p<0.05) from 1285±58 μm to 1100±49 μm. Thus, in vessels with a functional endothelium, increasing intraluminal flow over a physiological range of flows produced constriction, not dilation. Based on these results, it seems unlikely that flow-mediated vasodilation in the rabbit femoral artery contributes to exercise hyperemia., P. S. Clifford ... [et al.]., and Obsahuje bibliografii a bibliografické odkazy
Five Trichoptera species, representing four different families of three suborders, have been examined for sex chromatin status in relation to their sex chromosome system. These were Hydropsyche sp., Polycentropus flavomaculatus (Pictet), Rhyacophila sp., Anabolia furcata Brauer and Limnephilus decipiens (Kolenatý). None of the species displayed sex-specific heterochromatin in highly polyploid nuclei of the Malpighian tubule cells. Such sex chromatin is a characteristic trait of the heterogametic female sex in the sister order Lepidoptera; it is derived from the heterologous sex chromosome W. Hence, the absence of sex chromatin in somatic nuclei of Trichoptera females indicated the lack of a W chromosome in their karyotype. Correspondingly, diploid chromosome sets of the females consisted of an odd chromosome number, two sets of autosomes and one sex chromosome Z. Thus, the Z/ZZ chromosome mechanism of sex determination has been confirmed. In pachytene and postpachytene oocytes, the Z chromosome having no pairing partner formed a univalent. In Hydropsyche sp., the Z-univalent was distinct as a compact, positively heteropycnotic element. Whereas, in two other caddis-flies, P. flavomaculatus and L. decipiens, it formed a negatively heteropycnotic thread. In postpachytene nuclei of nurse cells of A. furcata, two sister chromatids of the Z chromosome separated as a result of chromosome degeneration and formed a negatively heteropycnotic pseudobivalent. The species-specific differences in pycnosis may reflect a transcriptional activity/inactivity of the Z chromosome during meiotic prophase. The absence of sex chromatin and the sex chromosome system in Trichoptera are characters in common with the "primitive" Lepidoptera. This supports a hypothesis that the commcommon with the "primitive" Lepidoptera. This supports a hypothesis that the common ancestor of both orders had a ZJZZ sex chromosome
mechanism.
Absolute continuity for functionals is studied in the context of proper and abstract Riemann integration examining the relation to absolute continuity for finitely additive measures and giving results in both directions: integrals coming from measures and measures induced by integrals. To this end, we look for relations between the corresponding integrable functions of absolutely continuous integrals and we deal with the possibility of preserving absolute continuity when extending the elemental integrals.
A two dimensional stochastic differential equation is suggested as a stochastic model for the Kermack-McKendrick epidemics. Its strong (weak) existence and uniqueness and absorption properties are investigated. The examples presented in Section 5 are meant to illustrate possible different asymptotics of a solution to the equation.
We prove that the spectral sets of any positive abstract Riemann integrable function are measurable but (at most) a countable amount of them. In addition, the integral of such a function can be computed as an improper classical Riemann integral of the measures of its spectral sets under some weak continuity conditions which in fact characterize the integral representation.