Wilson's disease: monocentric experiences over a period of 10 years [corrected].

BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The objective of this study is to present diagnostic pitfalls and long time follow-up data in Wilson disease. PATIENTS/METHODS: We studied 21 WD patients and 14 heterozygote carriers aged 2-43 years, retrospectively. 18 WD patients presented liver disease, three had mixed neurological and hepatic involvement and 9 patients underwent orthotopic liver transplantation (OLT). RESULTS: The median age at diagnosis of WD children without OLT was 10.16+/-3.8 (range, 5-16). All of females and younger age categories of patients prevailed in acute liver failure group. Serum ceruloplasmine levels were below 0.2 g/l in about (1/3) of WD carriers (X =0.27+/-0.09 g/l) and nearly (2/3) of children with WD (X = 0.21+/-0.13 g/l). A statistically significant difference (p<0.05) in the 24-h excretion of copper in urine was noticed between healthy controls, children with WD and WD heterozygote carriers. As diagnostic important proved the copper content of more than 250 microg/g hepatic dry weight. The Kayser-Fleischer?s ring was not observed in children. Ceruloplasmine, haemoglobin, ALT, ALP and plasma albumin were significantly different between fulminant and non-fulminant WD and could be used as indirect markers in evaluation of urgent OLT. CONCLUSION: Detection of WD in children remains very difficult. The most important investigation is liver biopsy with the assessment of liver copper. Genetic analysis may help in doubtful cases.

Oral rehydration in the therapy of simple diarrhea in infants and toddlers.

Acute diarrhea in infants and toddlers is frequent. Especially severe dehydration increases the risk of mortality in these children. In the therapy for uncomplicated diarrhea (dehydration no more than 9% of body weight loss) it is possible to use oral rehydration solutions (ORS). They are prepared easily, applied immediately, and the composition is also optimal for the body fluids of patients. ORS may be used in general pediatric practice but also during the treatment in hospital. This short report brings new aspects and practical considerations for the use of ORS by the most disadvantaged populations, as well as the need for public health.

Diagnostic importance of heterophile antibodies and immunoglobulins IgA, IgE, IgM and low-avidity IgG against Epstein-Barr virus capsid antigen in children.

The use of several serological markers in diagnostics of acute Epstein-Barr virus (EBV) infection in children and adolescents is recommended. We investigated the sera of 299 individuals with clinically suspect infectious mononucleosis for heterophile antibodies and EBV viral capsid antigen (VCA)-specific immunoglobulins IgA, IgE, IgM and low-avidity IgG. Heterophile antibodies were positive in 26%, VCA-specific IgA in 30%, IgE in 35%, IgM in 32% and low-avidity IgG in 37% of cases. The acute EBV infection defined as a case having either positive IgM or heterophile antibodies was present in 40% of persons. Compared with regard to this criterion the sensitivity, specificity, and positive and negative predictive values of individual tests were as follows: heterophile antibodies-66, 100, 100 and 82%; IgA-53, 84, 69 and 73%; IgE-54, 78, 62 and 72%; IgM-81, 100, 100 and 89% low-avidity IgG-66, 82, 71 and 78%. All markers except heterophile antibodies were positive even infants aged below 2 years. We consider the detection of low-avidity IgG and VCA-specific IgE an useful adjunct for the diagnostics of acute EBV infection in children.

[Use of Varitect in the prevention of diseases in children caused by varicella-zoster viruses]. / Pouzití preparátu Varitect v prevenci onemocnení vyvolaných virem varicella-zoster u detí.

The authors report on prophylaxis experience with specific human varicella-zoster immunoglobulin for intravenous use Varitect (produced by Biotest) in two children within incubation period of varicella. One patient was a newborn child whose mother had acquired varicella three days before the delivery and Varitect was administered immediately there after. The other patient had acute lymphoblastic leukemia; it was administered Varitect on the fifth day of incubation period. In the first patient the disease did not appear at all, in the second patient the course of disease had been mitigated and without complications within the extended incubation period.

[Eczema herpeticum in children: clinical picture and therapy]. / Eczema herpeticatum u detí: klinický obraz a terapie.

The authors submit information on the course and therapeutic experience with acyclovir (Zovirax Wellcome Co. and Herpesin Lachema Co.) in 67 children with eczema herpeticatum (EH) who were hospitalized at the Clinic of Infectious Child Diseases in Brno from January 1983 to January 1991. In all instances treatment led to rapid drying of the herpetis eruptions, a shorter period of new eruption and rapid improvement of the serious clinical condition. In none of the children visceral dissemination of the virus of herpes simplex (HSV) were occurred and in none of the children toxic side-effects were found. The authors confirmed the assumed identical course of EH after i. v. administration of acyclovir of foreign or local origin. After i.v. administration frequently dramatic improvement of the general and local finding was recorded, as compared with oral administration. There were no therapeutic differences in the clinical effects of tablets and suspension, the clinical effect being comparable.

[A minor epidemic of pertussis cough in Brno]. / Mensí epidemie pertusoidního kasle v Brne.

In the course of six months the authors investigated 32 children aged 1-32 months with pertussoid cough. This number included one child where pertussis was confirmed in a 25-month-old properly vaccinated child and parapertussis in an 8-month-old incompletely vaccinated infant. In the remaining children by cultivation or serological examination a different aetiology was found (RS virus, adenovirus, parainfluenza 2, M. pneumoniae, H. influenzae, Branhamella catarrhalis).

The growth of the muscular and collagenous parts of the rat heart in various forms of cardiomegaly.

1. Cardiomegaly has been produced in rats by sideropenic anaemia, by isoprenaline or thyroxine or by the application of both drugs, by artificial increase in resistance to blood flow and by long-term adaptation to hypoxia and physical stress. The ratio of the growth of muscle to the growth of collagen in the heart has been studied.2. All possible variations in the ratio occurred depending on the type of stimulus used for inducing cardiomegaly and on the dynamics of the development of cardiomegaly. In cardiomegaly induced by sideropenia and by thyroxine the growth of muscle was not accompanied by the growth of collagen. Exposure to hypoxia or isoprenaline administration increased only the growth of collagen in the hypertrophic heart. In all other forms of cardiomegaly muscle and collagen formation were stimulated to the same extent.3. It is concluded that when certain organs hypertrophy during adult life several factors may determine the relative rapidity of growth of the muscular or parenchymal and the collagenous stromal components of the tissue.