[Chromosome banding analysis of peripheral blood lymphocytes stimulated with IL2 and CpG oligonucleotide DSP30 in patients with chronic lymphocytic leukemia]. / Cytogenetické vysetrení lymfocytu periferní krve po stimulaci IL2 a CpG oligonukleotidem DSP30 u pacientu s chronickou lymfocytární leukemií

BACKGROUND: Chromosomal aberrations play an important role as prognostic factors in chronic lymphocytic leukemia (CLL). These aberrations are mostly detected by fluorescent in situ hybridization (FISH), as chromosomal banding analysis has been scarce due to low proliferative activity of malignant B-lymphocytes in vitro. In 2006, a new method using stimulation with IL-2 and CpG oligonucleotide DSP30 for metaphase generation in CLL was published [1]. The objective of our study was to verify the efficacy of stimulation and to evaluate if the method is suitable for routine diagnostics. PATIENTS AND METHODS: In total, peripheral blood samples of 369 CLL patients were analyzed in parallel by chromosomal banding analysis and by FISH probes for 13q14, 11q22-23, CEP12 and 17p13. RESULTS: Out of 369 patients, 307 (83%) were successfully stimulated for metaphase generation. Chromosomal aberrations were detected in 243 (79%) out of 307 patients evaluated by chromosomal banding analysis. Other aberrations that are not included into standard FISH panel were detected in patients karyotypes, e.g. del(6q), del(14q), t(14;18)(q32;q21), t(11;14)(q13;q32) and t(18;22)(q21;q11). One hundred and three (42%) patients showed complex aberrant karyotype not detected by FISH analysis. CONCLUSION: Stimulation with IL-2 and oligonucleotide DSP30 is an efficient method how to induce proliferation of malignant B-lymphocytes and allows detection of a substantial number of chromosomal aberrations in addition to those detected by standard FISH panel. Using this method in routine diagnostics is helpful particularly in identification of patients with complex aberrant karyotype.

Late hyponatremia in premature infants: role of aldosterone and arginine vasopressin.

To assess the possible involvement of arginine vasopressin in the pathogenesis of late hyponatremia in preterm infants, serial measurements of sodium balance, fractional sodium excretion, plasma and urine osmolality and sodium concentration, and urinary aldosterone and arginine vasopressin excretion were performed at weekly intervals in nine healthy preterm infants. During the course of late hyponatremia, there was a significant increase in urinary aldosterone and arginine vasopressin excretion, from 0.94 +/- 0.16 to 4.30 +/- 0.76 micrograms/day and from 0.38 +/- 0.08 to 1.19 +/- 0.26 ng/day, respectively, from the first to the fourth to fifth weeks. A significant negative correlation was found between fractional sodium excretion and urinary aldosterone excretion. Aldosterone excretion, however, correlated positively with urinary arginine vasopressin excretion in seven of the nine infants. The parallel increase in urinary aldosterone and arginine vasopressin excretion in salt-losing premature infants may occur in response to the protracted contraction of the extracellular fluid compartment, and may contribute to the restoration of volume in the body fluid compartments and to the development of late hyponatremia.

Simple diagnosis of diabetes insipidus and antidiuretic hormone excess.

The value of information that may be obtained by measuring osmolality of body fluids is not generally appreciated by clinicians. Osmolality determination by freezing point depression is technically simple to perform and requires only 0.2 ml fluid. The simultaneous measurement of plasma and urine osmolality may yield useful information concerning alterations in water homeostasis (diabetes insipidus and antidiuretic hormone excess) and avoid uncomfortable and sometimes hazardous investigations of patients.

Our experience with childhood histiocytosis X.

A retrospective analysis of the course of histiocytosis X in 16 children treated at our hospital over the past 15 years is presented. Nearly all of the patients were at generalized stages of the disease. In this study the staging according to Greenberg was used. The disease had a favorable course at Stages I and II, 1 patient at Stage III and 2 at Stage IV died. All the children were treated by chemotherapy, in some of them combined with radiotherapy. Individual patients differed from one another with respect to chemotherapeutic regimens. The actuarial survival rate was 78% for the whole group. Better results were obtained after a less intense but long-term treatment than after an intense but interrupted chemotherapy.

[Diagnostic value of particular symptoms in monosomy X. Evaluated on the basis of experiences with 34 own cases (author's transl)]. / Diagnostischer Aussagewert von Untersuchungsbefunden bei der Monosomie X. Ermittelt an 34 eigenen Fällen.

Ten cases of monosomy X and caryotype 45,X, and 24 cases of the disorder with various forms of mosaicism are reported. The diagnostic significance of particular stigmata is underlined, and the possibility stressed to demonstrate a hidden pterygium colli by declining the patient's head laterally. Moreover, several peculiarities of individual cases are shown: In three girls with mosaicism, spontaneous puberty was observed, however, in two of them, it was followed by precocious menopause at the age of 14 and 18 years, respectively. The necessity of caryotyping in growth-retarded girls with secondary amenorrhoea or with a ren arcuatus or unilateral solitary kidney is emphasized. High values of urinary gonadotropins in girls without signs of puberty or with precocious menopause, indicate the need for substitution. This therapy leads to the appearence of secondary sex phenomena and menstruation, and at the same time prevents osteoporotic changes.

[A short-term test using DDAVP for determination of the renal concentration capacity (author's transl)]. / Erfahrungen mit einem DDAVP -Schnelltest zur Bestimmung der Konzentrationsfähigkeit der Niere

A short-term test to determine renal concentrating ability without any water deprivation has been described. It consists of osmolatity determinations in three onehour urine portions from spontaneous voidings following an intranasal application of 7 microng of the synthetic analogue of vasopressin-DDAVP per 0,5 m2 body surface. The values of maximal urine osmalatity over 900 mosm/Kg H2O following DDAVP are considered normal whereas values under 600 mosm are consistent with impaired renal function. If, however, the maximal urine osmolality is in the so called "uncertain range" i.e. from 600 to 900 mosm, it is advisable to perform in the same patients also the classical concentration test based on a prolonged dehydration (26 h).