Indirect genotype analysis as a diagnostic procedure in Marfan syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue characterized by skeletal, ocular and cardiovascular manifestations. The disease is caused by mutations in the FBN1 gene, encoding fibrillin, an important component of elastic fibers. Diagnosis of Marfan syndrome is currently based on detailed clinical examination and/or mutation analysis in the fibrillin gene. Clinical expression varies widely both among and within families, rendering clinical diagnosis extremely difficult. In this study, we performed segregation analysis of allelic DNA polymorphisms to support diagnosis of Marfan syndrome. This type of genotype analysis is a useful, additional diagnostic tool for families with Marfan syndrome and provides incremental information of diagnosis or exclusion of Marfan syndrome based on clinical findings.     

Sonography of meningoencephalitis and ventriculitis in infancy

On the basis of eleven own cases sonographic features of infant meningoencephalitis and ventriculitis are discussed. The characteristic findings are as follows: abnormal parenchymal echogenicity of brain, changes of the size and wall echogenicity of cerebral ventricles and that of cerebrospinal fluid echogenicity.     

Analysis of antibiotic consumption of five different clinical departments,especially considering the features of hematology departments

The importance of antibiotic consumption and bacterial resistance analysis is unquestionable. Although the WHO has been recommending the use of ATC/DDD method for the analysis of drug utilization for about 20 years, only limited numbers of publications are available considering the antibiotic consumption of in-patients. In the present study--with the help of the mentioned method--we analysed the utilization of antibiotics in 5 clinical departments. We also investigated the connection between antibiotic consumption, bacterial resistance and enterococcal sepsis at the haematologic department. We could follow the successful impact of the implementation of the new guideline.     

Permeability Profiles of M-Alkoxysubstituted Pyrrolidinoethylesters of Phenylcarbamic Acid Across Caco-2 Monolayers and Human Skin

Purpose. The purpose of the present research was to study 10 m-alkoxysubstituted pyrrolidinoethylesters of phenylcarbamic acid—potential local anesthetics. The relationships between the structure of the molecule, its physicochemical parameters (log D_oct, log k, R_M, solubility) were correlated to the permeability data obtained from permeation experiments in Caco-2 monolayers and excised human skin in vitro. Methods. The extent and mechanism(s) of permeability of the series were studied through a Caco-2 monolayer in the apical-to-basolateral (a-b) and basolateral-to-apical (b-a) directions. The MTT test was performed to determine cellular damage. In vitro transdermal permeability data were obtained from permeation experiments on excised human skin by using side-by-side chambers. Passive diffusion and iontophoretically enhanced permeability were measured. Results. In Caco-2 monolayers, similar results in the shape of the permeability curves were obtained for the two directions. In the b-a direction, the values of P_app were 2-6 times greater than in the a-b direction. A plot of drug permeability vs. the number of carbons in the alkoxychain plateaued first, after which the permeability decreased by the increasing lipophilicity of the drug. If the log D_oct of the ester was 3.4 and the MW > 385 Da, no measurable Caco-2 permeability was found. Cell damage was also higher by the more lipophilic compounds. In excised human skin, the relationship between the passive diffusion of the drugs and the number of carbons in the alkoxychain was parabolic (r ² = 0.95). Introducing low-level electrical current (iontophoresis), transdermal permeability of the more hydrophilic phenylcarbamic acid esters increased clearly. Conclusions. Lipophilicity and solubility of a compound have crucial roles in the permeation process. A very high lipophilicity has, however, a negative influence on the permeability, both intestinally and transdermally. Iontophoresis significantly increases the diffusion of small and less lipophilic compounds.     

Cerebellar fastigial neurons send bifurcating axons to both the left and right superior colliculus in cats

Anesthetized cats were injected with 2% Fast Blue and 0.5% Nuclear Yellow into the intermediate and deep layers of the left and right superior colliculus, respectively. In the right caudal part of the cerebellar fastigial nucleus (cFN), double-labeling was found in 38.5% of the neurons labeled with Fast Blue, and in 11.5% of the neurons labeled with Nuclear Yellow. In the left cFN, 52.2% of the neurons labeled with Fast Blue and 11.0% of the neurons labeled with Nuclear Yellow were double-labeled. The results suggest a role of bifurcating fastigial fibers in cerebellar visual control.     

Surgical treatment of decubitus ulcers of the pelvic area in patients with spinal cord injury

Pressure sores in spinal cord-injured patients can be treated by either conservative or surgical methods. Shortened healing period and long lasting results can be achieved by surgery. Between 1993 and 2001 the authors performed 64 operations with musculocutaneous or musculo-fasciocutaneous flaps in all cases. All patients healed primary except one, whose 20-year-old pressure sore transformed malignant and gave metastasis. The complication rate was 21.42%, that equals with the data of the literature. Measuring the late postoperative results by follow-up questionnaire, a 9.52% ratio of recurrence was found, which was significantly smaller than data of the literature (19-82%). Authors analyse the causes of their (good) results.     

Clinical comparison of graft materials used for sinus elevation

Augmentation of the base of the maxillary sinus is one of the surgical procedures utilized in preparation for artificial root implantation in the maxilla. The authors intended to survey the causes of the lack of success (graft loss and implant failure) of sinus elevations with various graft materials or their combinations.