Expanding CEP290 mutational spectrum in ciliopathies.

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C-terminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified.

New concept in external fixation.

A new concept in external skeletal fixation is presented. A 3D unilateral system developed by Mitkovic has widely been investigated biomechanically in AO institute in Davos (Switzerland). Consists of three components only providing extremely simple application and dynamic fixation of bones and different joints. This simple external fixator functions as an accurate reduction device at the same time, minimizing need for fluoroscopy. Clinically this system has been applied to mere then 13 thousand patients in 43 clinics. This paper presents the results of its application for treatment of open fractures, war wounds with fractures and for comminuted and intraarticular closed fractures in the series of 597 patients. Overall average time for union time was 3.2 months. Overall success of fracture healing was 96.8% including open and closed fractures. Our study suggests that the use of this 3D unilateral system is suitable for routine use.

Reconstructive procedures on lower extremities using Mitkovic external fixation system.

The results of limb lengthening, correction of limb deformities and solving of bone loss, by the use of Mitkovic external fixation system and minimally invasive technique on the series of 96 operations in 89 patients are shown. Only lower extremities were included in this series. The advantages of this external fixation system in comparison to other systems are pointed out. The main advantages are the optimal biomechanical conditions including unilateral but 3-dimensional frame, which provides conditions very similar to natural biomechanical features of the human long bones, simplicity of application and low cost. The received result was excellent or very good in 98.4%. Maximal limb lengthening was 18 cm (at the same time in the femur and the tibia). Angular deformity correction is extremely simplified with minimized possibility of complications. The frame for bone transport is very simple. It can be concluded that presented methods are suitable for routine use.

The influence of prostacyclin (PGI2) on contractile properties of isolated right ventricle of rat heart.

The mechanism of the positive inotropic effect of prostacyclin (PGI2) (2.6 x 10(-6) mol/l) on the isolated right ventricle of rat heart was studied. Our results show that the positive inotropic effect of prostacyclin is produced indirectly through beta adrenoceptors and slow Ca2+ channels, because blockade of slow Ca2+ channels with verapamil (10(-6) mol/l) and beta adrenoceptors with propranolol (10(-6) mol/l) abolishes this effect. Alpha adrenoceptors do not mediate the action of PGI2.

Study of the mechanism of prostacyclin (PgI2) action on myocardial contractility.

The experiments done on the isolated right ventricle of rat heart suspended in the bath for isolated organs with oxygenated Tyrode's solution showed the PgI2 (2.3 x 10-6 mmol) produced its positive inotropic effect indirectly by promoting both beta-adrenoreceptors and calcium entry through slow calcium channels because this effect could be blocked by propranolol (2.3 x 10-2 mmol - beta-adrenoreceptor blocker) or verapamil (4.3 x 10-3 mmol - slow calcium channel blocker).

Neutralization of the activity of vipera ammodytes ammodytes snake venom on myocardium of rats by antitoxinum viperinum: a histopathological study.

Antitoxinum viperinum was tested for its ability to prevent alteration of the myocardium induced by Vipera ammodytes ammodytes venom. Antivenom was injected intraperitoneally either immediately, 30 min or 2 hr after the intraperitoneal injection of venom. The light microscopic examination showed that the antiserum neutralized the effects of venom and antivenom might be useful in treating V.a. ammodytes venom poisoning.

A rule-based system for verifying engineering specifications in industrial visual inspection applications.

An important step in automatic visual inspection is verifying whether a part is good or bad, by comparing a list of inspection specifications to a list of extracted and measured defects. Our goal is to provide a general, flexible, and efficient solution to this problem. We present a solution following a rule-based approach for the case of specs for visual inspection of disk heads. However, due to the generality of our approach (within the realm of visual inspection), it is easily extendible to verification of specs in other visual inspection applications. While flexibility comes naturally with the rule-based approach, efficiency is still an issue. Therefore, we implemented two techniques to increase the efficiency of our system: one at the rule level, and one at the rule-matching level. We describe our implementation and show experimental results from applying our approach in an experimental system for automatic visual disk head inspection.

Histopathological changes in rat myocardium caused by Vipera ammodytes ammodytes (European viper) snake venom.

The application of Vipera ammodytes ammodytes snake venom, either crude venom or fractions 5 and 6 of the 11 obtained from a Sephadex G-100 column, produced parenchymal degeneration of the myocardium of isolated rat hearts.

Influence of calcium on the action of Vipera ammodytes ammodytes snake venom on the myocardium.

V. ammodytes ammodytes snake venom produced irreversible block of the isolated, artificially stimulated rat right ventricle or isolated rat heart. This was the result of degenerative changes of the myocardium caused by the direct effect of toxic components of the venom. An excess of Ca2+ could temporarily restart the contractions.