Clinical,biochemical and histological analysis of seven patients with cholesteryl ester storage disease

Lysosomal acid lipase (LAL) deficiency leads to two phenotypically different diseases: cholesteryl ester storage disease (CESD) and Wolman's disease. Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides. Deficiency of LAL results in intralysosomal storage of cholesteryl esters and triglycerides. CESD has a chronic and benign course and is characterized by hepatomegaly and mild hypercholesterolemia. It leads to fibrosis (cirrhosis) and early atherosclerosis. This report presents the clinical, biochemical and microscopic data of seven patients with CESD followed up over 10 years. The physical development of all the study children remained within the normal range; 7 patients had hepatomegaly and 6 also had splenomegaly. Three patients had normal cholesterol, triglycerides and transaminases values; the other four had slightly elevated levels for these parameters. The activity of LAL in all patients was reduced to below 30% of the lower normal value. Histologically, cholesteryl crystals and lipid storage vacuoles in Kupffer cells were present in all examined patients except one. Accumulation of cholesteryl esters was visible on thin-layer chromatography of lipid extracts obtained from liver biopsies.     

Analysis of Circadian Distribution of Premature Ventricular Contractions in Patients After Heart Transplantation

The aim of our study was to analyze circadian distribution of premature ventricular contractions (PVC) and its coupling interval (CI) in patients after orthotopic heart transplantation (HTx). Forty-two patients (5 females, 37 males) were monitored from 2 weeks to 5 years after HTx; 180 24-hour Holter ECG studies were performed. All recordings were divided into two groups: group I, within 1 month after HTX; and group II, after 1 month. Patients with more than 250 PVC/24 hours were selected for distribution of PVC and CI evaluation. Conclusions : Ventricular arrhythmias occur frequently in patients after heart transplantation. In patients with high Lown scale arrhythmias low occurrence (< 250/24 hours) of PVC was frequently observed (IVa: 81.8%; IVb: 84.7%). Similar patterns of circadian distribution (CD) of PVC and CD of HR in denervated heart after HTx suggest the influence of circulating catecholamines on their occurrence.     

Influence of the peptide chain length of new elongated tuftsin analogs on phagocytosis process

In this paper the synthesis of the following elongated tuftsin analogs: Arg-Thr-Lys-Pro-Arg (1), Pro-Arg-Thr-Lys-Pro-Arg(II), Lys-Pro-Arg-Thr-Lys-Pro-Arg(III) and Thr-Lys-Pro-Arg-Thr-Lys-Pro-Arg(IV) by classical and solid-phase methods are described. The obtained peptides were tested for their biological activity: restoration of the phagocytosis of defected granulocytes from blood of children with acute lymphoblastic leukemia (ALL).     

Discriminant functions and 21-trisomy mosaicism

A sample of 173 cases of cytogentically diagnosed 21-trisomy mosaicism, 225 cases of complete 21 trisomy and 302 normal controls were used to form discriminant functions for mosaics versus normal controls, and also for complete 21 trisomics versus normal controls; for each of these discriminants optimal sets of ten dermatoglyphic characters were selected. The mean discriminants and discriminant coefficients were calculated on the basis of these characters, using Fisher's method. The relative position of mosaics in respect of the mean discriminant values, was found closer to the Down's syndrome group than to the normal controls. Consequently, reasonably, good separation of the mosaics from the normal controls has been achieved: the distance between the two mean discriminants is greater than two standard deviations. The distribution curves were then constructed of individual discriminants, calculated in a majority of cases from all the three groups. The distribution curve for mosaics has been found bimodal so that more detailed study of the individuals forming its first peak was undertaken; a possible relationship between the degree of dermatoglyphic distortion and cytogenetic findings is discussed and some limitations of both methods are indicated. The results concerning discriminant function indices are recommended for further use, particularly in genetic counselling. Their application in the studies of populations of parents of Down's syndrome cases is demonstrated in the group of 79 parents of two or more Down's cases and the group of 111 parents of one Down's case. On the basis of these data it is postulated that there may be some proportion of undetected mosaics amongst the parents of Down's cases, but larger numbers are necessary to support and further specify these preliminary results.     

Evaluation of Sinus and Atrioventricular Nodes Function in Patients with Vasovagal Syncope

Aim: Evaluation of sinus and atrioventricular nodes function as a potential factor responsible for prolonged bradycardia, asystole, or both in patients with cardioinhibitory and non-cardioinhibitory vasovagal syncope (VVS). The study included 258 patients (mean age = 47.7 ± 17.2 years; range 18–62; 147 females) with a history of VVS. They were divided among four groups, according to results of head-up tilt test (HUTT).
Methods: All patients underwent standard HUTT, carotid sinus massage (CSM), and rapid transesophageal atrial pacing for evaluation of total sinus node recovery time (SNRT), and corrected sinus node recovery time (CNRT), resting and intrinsic heart rate (IHR), and Wenckebach point (WP). Values of SNRT > 1,500 ms, CNRT > 525 ms, WP < 130 bpm, and CSM-induced pause >3 seconds were considered abnormal.
Results: SNRT, CNRT, and WP before and after pharmacological blockade, resting heart rate, and IHR did not differ significantly among the study groups. The prevalence of mild sinus node dysfunction (SND), decreased value of WP, and cardioinhibitory carotid sinus hypersensitivity was similar among all study groups.
Conclusions: The prevalence of mild SND, abnormal atrioventricular conduction, and carotid sinus hypersensitivity (CSH) was similar among patients with VVS regardless of the type of vasovagal reaction. SND and CSH do not seem to play an important role in the pathogenesis of cardioinhibitory vasovagal reaction.     

Standard and intermediate risk acute lymphoblastic leukemia in Poland: A report of the Polish Children's Leukemia/Lymphoma Study Group

A total of 527 children with acute lymphoblastic leukaemia (ALL) from the most frequent risk groups: standard risk group (SRG) and intermediate risk group (IRG) were treated between 1987 and 1991 according to an intensified treatment program (based on the BFM protocol) including the use of an intermediate dose of methotrexate in the IRG. A comparison of the treatment results in this group from 513 children treated between 1981 and 1987 indicates that the chance for a 6 year event-free survival has increased to 73% (previously 55%).