Diastrophische Dysplasie

The case report presents a 25-year-old woman who got pregnant twice in 1 year. Both pregnancies were terminated after ultrasound examination demonstrated limb abnormalities. Radiological and pathological examinations showed diastrophic dysplasia, a rare form of an osteochondrodysplasia with autosomal recessive inheritance. Here the histopathological findings in the cartilage and prenatal diagnosis by ultrasound are discussed.     

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency

Mutations P225L and P225R were identified in codon 225 of the gene for ornithine transcarbamylase (OTC) in two patients with the neonatal form of OTC deficiency. The mutations occur at a CpG dinucleotide and eliminate a unique MspI restriction site in exon 7 of the OTC gene. They do not alter existing splice sites or create new sites, as judged from the nucleotide sequence. Both mutations are associated with undetectable levels of OTC antigen in liver homogenates, and with either complete lack of OTC activity (P225R mutation) or very small residual activity (0.15% of normal in the P225L mutation). The residual activity observed with P225L exhibits normal pH dependence, little or no increases in the Km values for ornithine and carbamoyl phosphate and normal stability at either 37°C or, in the presence of 0.66 mol/L urea, at 0°C. The latter conditions were used to examine whether the P225L mutation favours dissociation of the active OTC trimer. Given the normal stability and lack of tendency to dissociation of the mutant enzyme, it appears likely that the dramatic reduction in the level of OTC protein is due to inefficient conversion of the mutant OTC precursor polypeptide (pOTC) into the correctly localized, appropriately folded, mature enzyme trimer, suggesting degradation of pOTC in transit to the mitochondria.     

Tessier type VI-VII cleft combination associated with congenital bimaxillary fusion and anophthalmia.

Congenital intermaxillary fusion is a rare anomaly. Combination of the anomaly with any type of facial cleft is extremely rare. Death in a majority of these patients as a result of feeding and aspiration problems in early life may have caused the reports to be limited. In this article a 5-year-old patient, probably the first in the literature having Tessier type VI-VII facial cleft combination associated with bimaxillary fusion and anophthalmia on the right side, is presented. The patient has survived on fluid meal through a very small opening for 5 years. The features of the case are presented, and the time and method of the management of such a rare anomaly are discussed with a review of the literature.     

Allergen content in dust from homes and schools in northern Norway in relation to sensitization and allergy symptoms in schoolchildren

Background Previous studies have shown a high prevalence of atopic diseases among school children in the community of Sør-Varanger. Moreover, animal dander followed by pollen und house dust mite, were the most common allergens in skin prick tests. Objective To assess the allergen content in homes (living-rooms and mattresses) and classrooms of children living in an arctic area at 70° north. The presence of allergens in homes and schools and their relationship to atopy was of particular interest. Methods Dust samples from 38 homes and seven schools in northern Norway were collected by vacuum cleaning. The presence of allergens of dog, birch, timothy, Cladosporium herbanun, codfish and hen egg-white was investigated by radio-allergosorbent test (RAST) inhibition and the presence of major allergens of cat Felis domesticus (Fel d I) and house dust mites (HDM) Dermatophagoides pteronyssinus (Derp I) and Dermatophagoides farinae (Derf I) by enzyme-linked immunosorbent assay (ELISA). Results Mattresses contained significantly more dust per unit area than living-rooms and classrooms. No statistically significant differences in allergen content for dog. birch, timothy, Cladosporium, codfish and hen egg-white were seen between HDM-sensitized and non-atopic children. Most dust samples contained dog allergens with the highest allergenic activity found in living-rooms of those keeping dogs. An increased level of Feld I was detected in only one of 38 samples from living-rooms (this family kept a cat) and in 25 of 38 samples from mattresses with ranges from 24 to 84ng/m². The highest concentrations were found in mattresses of children keeping cats. Increased levels ( 25 ng/m²) of Derp I were found only in homes and virtually only in mattresses of HDM-sensitized children. An increased level of Derf] was found in only one case, i.e. in the mattress of an HDM-sensitized child where additionally Der p I and HDMs were demonstrated microscopically. When relating Der p I to HDMsensitization an odds ratio of more than 16 (95% Cl: 1.6–394.3) was found. All extracts from living-rooms included codfish allergens. Low RAST inhibition values were detected for hen egg-white, Cladosporium, birch and timothy pollen in most samples. Furthermore, the study demonstrated that dust from schools was relatively free of allergens. Conclusion Previous findings indicating that the main allergen exposure problem in this geographical area is that of pet allergens were confirmed.     

Early and Late Results of the Self-Expanding Nitinol Stents: Interim Report from a Multicenter European Study

The experimental and clinical results of the self-expanding nitinol coil stent have been reviewed. Animal data have shown that the stent is safe and provokes a mild proliferative response, similar to previously studied balloon-expandable stents. Data from femoral and popliteal arteries are supportive of long-term patency in these arteries, which are typically associated with unfavorable results from other stents. Data from coronary implantations in patients show that the stent can be safely used to treat coronary lesions of both simple and complex natures. Long-term results of these patients compare favorably with existing data in similar lesions using other stents. A larger clinical trial using the new flat wire design stent is required to test whether further stent expansion may contribute to low restenosis rates.     

Doing it right the first time: quality improvement and the contaminant blood culture.

The aim of the project was to determine whether the rate of contaminant blood cultures could be reduced by using a team of dedicated phlebotomists. Comparisons were made between adult patients requiring blood cultures for suspected bacteremia on medical and surgical units before and after the introduction and withdrawal of a dedicated blood culture team. The results showed that a significant reduction in the contaminant blood culture rate was achieved by the blood culture team (P < 0.001; chi(2) test). Therefore, in our experience, the rate of contaminant blood cultures can be reduced in a teaching hospital by using a team of dedicated phlebotomists. Calculations made with our data and those published by others suggest that cost savings from reducing false-positive blood cultures are greater than the cost of the blood culture team.     

Effect of aceclidine on scopolamine- and electroshock-induced amnesia in rats

It is found that the cholinomimetic aceclidine stimulates learning and memory processes and exerts antiamnestic effect in rats with conditioned avoidance reaction. The effect of aceclidine is not inferior to that of amiridin and surpasses that of physostigmine. Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 123, No. 3, pp. 296–298, March, 1997