[Li-Fraumeni syndrome - a proposal of complex prevention care for carriers of TP53 mutation with total-body MRI]. / Li-Fraumeni syndrom - návrh komplexní preventivní péce o nosice TP53 mutace s pouzitím celotelové magnetické rezonance.

Li-Fraumeni syndrome (LFS) is one of the most serious hereditary cancer syndromes with high risk of malignancy already in childhood. Adrenocortical carcinoma, brain tumor, leukemia, sarcoma are the most frequent malignancies in children. Early breast cancer, brain tumor, sarcoma, skin cancer, gastrointestinal, lung, gynecological, hematological and other malignancies can be seen in adults. Predictive testing in families with detected LFS and TP53 mutation is offered from the age of 18 for various reasons. One of the most important reasons is a very limited effectivity of prevention especially in children, also the possible risk of psychological harm to the child and his family caused by the diagnosis of this syndrome. Progress in diagnostic methods, especially total body MRI, enables to propose preventive care for early cancer diagnoses for children and adults. Biochemical tests, ultrasound, MRI may improve survival of these high risk individuals and support the possibility of predictive testing in children.

[Malignant tumors of long bones in children: differential diagnosis and the role of imaging methods]. / Maligní tumory dlouhých kostí u detí, diferenciální diagnostika, prínos zobrazovacích metod.

PURPOSE OF THE STUDY: The aim of the study was to analyze primary malignant tumors and tumor-like lesions of long bones, in relation to their localization, characteristics and distribution in age groups, in children and young adults, and to assess the role of radiography and magnetic resonance imaging (MRI) in their diagnosis. MATERIAL: Sixty-four patients, aged between 3 and 20 years, who were referred to us with the diagnosis of a suspected malignant long-bone tumor of osseous or cartilage origin in the period from 2000 to 2004 were included in the study. METHODS: Plain radiography and MRI were carried out on the same day. For MRI, the Magnetom Open Viva system (magnetic field strength of 0.2 T) was used and examination comprised a conventional STIR (corresponding to fat saturation) and a T-weighed sequence. Most patients also underwent post-contrast examination with paramagnetic contrast medium infusion. RESULTS: In 26 children (40.6 %) a primary malignant tumor of osseous or cartilage origin was diagnosed; one child (1.5 %) had a giant-cell tumor. The definitive diagnoses in 37 children (57.9 %) included osteomyelitis in 12, fatigue fracture in 11, posttraumatic myositis ossificans in three children, and miscellaneous diagnoses in the remaining 11 children (one, cartilaginous exostosis; three, unicameral bone cyst; two, non-ossifying fibroma; one, fibrous dysplasia; one, subperiosteal abscess; one, histiocytosis; one, foreign body; one, negative MRI findings). CONCLUSIONS: To confirm the diagnosis of a malignant long-bone tumor, high quality X-ray and MRI are essential; CT examination is recommended in specific indications. The results of imaging methods cannot be assessed without reference to each other. Primary malignant tumors of long bones usually involve a large soft-tissue mass, and an exclusively intraosseous localization is rare. Osteosarcoma often invades the epiphysis. In making the differential diagnosis of primary malignant bone tumors, special attention must be paid to differentiation from osteomyelitis or fatigue fractures. The majority of juvenile bone lesions of any origin are usually detected between 10 and 13 years of age. These pathologic lesions are most frequently localized in the distal or proximal transition zones between the diaphysis and metaphysis.

Arteriovenous fistula as a complication of renal biopsy.

BACKGROUND: We evaluated the incidence and history of arteriovenous fistula (AVF) after kidney biopsy and assessed the use of superselective embolisation for treatment. METHODS: Case report of a 10-year-old boy with nephrotic syndrome. Renal biopsy (RB) in this patient was complicated with AVF. Immediately after RB was undertaken, microscopic haematuria was observed, within 48 hours after the biopsy life-threatening haematuria due to pseudoaneurysm started. Renal angiography was carried out, which demonstrated a hyperthrophic aberrant artery in the region of the bottom pole of the left kidney, from which blood was instantaneously flowing through a high-flow arteriovenous fistula (AVF). RESULTS: Embolization was carried out using small platinum coils (MWCE-18S-3/2, -18S-4/2, -18S-5/2TORNADO Embolization Microcoil) and the tissue adhesive Histoacryl. CONCLUSIONS: The technique of superselective embolisation using coaxial catheter is a safe method in the treatment of post biopsy AVFs and pseudoaneurysm (Fig. 3, Ref. 6).

[Use of magnetic resonance in preoperative evaluation of urinary tract obstruction in children--initial results]. / Vyuzití magnetické rezonance pri predoperacním vysetrení obstrukcí mocových cest u detí--první výsledky.

OBJECTIVE: To evaluate hitherto assembled experience with the application of magnetic resonance in the preoperative diagnosis of patients with obstruction of the upper urinary pathways. METHOD: Urography using magnetic resonance was performed in 22 children aged 1 month to 17 years with a sonographically assessed dilatation of the upper urinary pathways. The examinations were compared with concurrent excretory urography and formed part of a complex of preoperative examinations. RESULTS: In seven patients magnetic urography was evaluated as more accurate than excretory urography, in five instances excretory urography was more accurate, in the remaining children the results were comparable. CONCLUSION: The advantage of urography implemented by magnetic resonance is the short examination time, its non-invasive character, absence of ionizing radiation, impossible allergenization, and the examination does not depend on the functional fitness of the kidney. The results of examination are comparable with X-ray excretory urography.

[Magnetic resonance urography as an indicator for surgical treatment of anomalies of the upper urinary tract]. / MR urografie jako indikacní kritérium v chirurgické lécbe anomálií horních mocových cest.

AIMS: To compare the quality of MR of urography with intravenous urography, sonography and scintigraphy of urinary tract, presentation of MR urography as a possible substitution of so far used examinations in preoperation diagnostics of anomalies in upper urinary tract. METHODS: Static MR urography was used to examine 51 patients at the age of one month to 18 years with dilation of upper urinary tract detected by sonography. In 12 of them a dynamic MR study of the kidneys was also performed. Magnetic urography was compared with elimination urography, sonography and dynamic kidney scintigraphy. The detection rate was evaluated within the framework of the complex preoperation examinations for different stages of urinary tract in patients up to 2, 6, 12 and 18 years, respectively. RESULTS: In the total number of 36 kidneys, modified by hydronephrosis, magnetic urography was evaluated as more precise in 18 cases, elimination urography in eight and both examinations were considered equal in 10 cases. The imaging of megaureters by MR urography was more precise in 7 cases, elimination urography was at the same level six times and less precise in eight patients. The results differed in individual age categories. Sonography imaging of the kidney was good as well as for the lower portion of ureter but insufficient for the middle portion. The same course of excretion curves in dynamic excretion urography and dynamic scintigraphy of the kidney was reached in 6 patients. CONCLUSION: MR urography is capable to provide information on anatomy and function of the whole urinary tract in a single examination, being different from excretion urography by its ability of imaging and evaluating the hypofunctional part of the kidney. It represents a possibility to significantly reduce present examination which exerts a load upon the patient.

[Use of central venous catheters in children with hematologic neoplasms from the viewpoint of the pediatric surgeon]. / Pohled detského chirurga na pouzití centrálního zilního katétru u hematologicko-onkologicky nemocných detí.

Venous access by cannulation of the central vein is a necessary prerequisite of the oncological treatment. Within the period 1998-2001 there 395 CVCs (Central Venous Catheters) were introduced using a subcutaneous tunnel in 335 hospitalised patients at the Clinic of the Child Surgery, Orthopaedics and Traumatology FN Brno. In 310 patients Hickman CVC was used and in 25 Groshong CVC. Using the vena subclavia 1. dx., 131 CVCs were introduced, via the vena subclavia 1. sin. 264 CVCs. The average period of CVCs introduction was 3 months. In 78 introduced CVCs infectious complication developed. A local infection was noticed only 8 times, general infection at 70 cases. In 13 patients CVCs had to be removed. The authors present their experience with the introduction of tunneled CVCs in oncological patients and the options for solving the infectious complications when using CVCs.

[Diagnosis of acute pyelonephritis in childhood: comparison of ultrasonographic examination and renal scintigraphy using 99mTc DMSA]. / Diagnostika akutní pyelonefritidy v detském veku: srovnání ultrasonografického vysetrení a scintigrafie ledvin pomocí 99mTc DMSA.

THE CURRENT STATE: Infections of the urinary tract are a frequent paediatric problem. Their treatment requires to assess the localisation of infection within the uropoetic tract. Especially the acute pyelonephritis (AP) can lead to irreversible changes within the renal parenchyma and alteration of renal functions. Some imaging examinations can help in the assessment of the diagnosis of AP and contribute to appropriate therapy. SUBJECTIVE: The analysis of results gained from imaging examinations in children with AP was based on the comparison of used techniques and the assessment of their exploitation for the diagnosis of AP. METHODS AND MATERIAL: 38 children (17 girls and 21 boys at average age of 11.6 years) with clinical criteria of AP were subdued to ultrasonographic examination with B record (US-B) and ultrasonographic examination with energetic Doppler (US-D). Both methods were compared with the findings gained by use of renal scintigraphy 99mTc DMSA. RESULTS: The positive finding of AP was proved in 36 children (94.7%). The results of US-B proved AP in 14 children (36.8%) of the whole group of patients, i.e. in 38.8% with positive DMSA finding. US-D changes indicated AP in 15 children (39.4%) of the whole group, i.e. in 41.6% with positive DMSA finding. The sensitivity of both methods US-B and US-D appear to be low for the verification of changes in renal parenchyma in AP. CONCLUSION: Despite its advantages and availability, the gain from ultrasonographic examination in children suffering from AP is small. Clinical and laboratory criteria are fully sufficient for AP verification in common clinical practice. DMSA scintigraphy is a method of choice in complicated cases of AP. (Tab. 1, Ref. 17.)

[Systemic enzyme therapy in the treatment of supracondylar fractures of the humerus in children]. / Systémová enzymoterapie v lécbe suprakondylické zlomeniny humeru u detí.

The authors present their experience with enzyme therapy--the preparation Wobenzym--in comprehensive treatment of supracondylar fractures of the humerus in children. On monitoring the condition of the extremity by Doppler ultrasound, where the flow through the radial artery was quantified they obtained better results in the group of patients treated by systemic enzyme therapy than in the control group. Systemic enzyme therapy is recommended as a suitable supplement in comprehensive treatment where the most important part is played by correct and early treatment along with precise monitoring of the extremity during the postoperative course.

The Drosophila fork head factor directly controls larval salivary gland-specific expression of the glue protein gene Sgs3.

The Drosophila Fork head protein participates in salivary gland formation, since salivary glands are missing in fork head embryos. Here we show that the fork head encoded protein binds to an upstream regulatory region of the larval salivary gland glue protein gene Sgs3. Mobility shift assay in the presence of an anti-Fork head antibody demonstrated that the Fork head factor interacts with the TGTTTGC box shown to be involved in tissue-specific Sgs3 expression. Experiments employing a set of oligonucleotide competitors revealed that Fork head binding was prevented by the same single base substitutions that were previously shown to interfere with the TGTTTGC element function in vivo. Furthermore, the anti-Fork head antibody bound to >60 sites of polytene chromosomes, including the puffs of all Sgs genes and Fork head protein was detected in the nuclei of salivary glands of larvae of all examined stages. These data provide experimental evidence for the hypothesis that the protein encoded by the fork head gene is required initially for salivary gland formation and is utilized subsequently in the control of larval genes specifically expressed in this organ.

Spatial and temporal expression pattern of Bombyx fork head/SGF-1 gene in embryogenesis.

The embryonic expression of Bombyx fkh/SGF-1 gene has been analysed using in situ hybridization and immunohistochemistry. Both transcripts and protein were first detected in the most anterior and posterior regions at the time of germ anlage formation, and were successively expressed in the foregut and hindgut at later stages. A weaker expression was also detected in the elongated midgut. By the time embryo retraction was finished transcripts and protein were also detectable in the invaginated whole silk glands, and after the blastokinesis stage the products were restricted to the middle and posterior silk glands achieving a state required for the SGF-1 distribution for later stages. Expression could also be detected in the central and peripheral nervous systems. From these observations, we propose that Bombyx Fkh/SGF-1 may play a role in organogenesis processes such as those of the gut, silk glands, and nervous systems, act as a region specific homeotic gene, and in spite of clear embryonic developmental differences between Drosophila and Bombyx, two terminals may be determined by region specific genes such as Bombyx fkh/SGF-1 as opposed to segmental development.

Salt-resistant hypertension in mice lacking the guanylyl cyclase-A receptor for atrial natriuretic peptide.

Around half of all humans with essential hypertension are resistant to salt (blood pressure does not change by more than 5 mm Hg when salt intake is high), and although various inbred strains of rats display salt-insensitive elevated blood pressure, a gene defect to account for the phenotype has not been described. Atrial natriuretic peptide (ANP) is released from the heart in response to atrial stretch and is thought to mediate its natriuretic and vaso-relaxant effects through the guanylyl cyclase-A receptor (GC-A). Here we report that disruption of the GC-A gene results in chronic elevations of blood pressure in mice on a normal salt diet. Unexpectedly, the blood pressure remains elevated and unchanged in response to either minimal or high salt diets. Aldosterone and ANP concentrations are not affected by the genotype. Therefore, mutations in the GC-A gene could explain some salt-resistant forms of essential hypertension and, coupled with previous work, further suggest that the GC-A signaling pathway dominates at the level of peripheral resistance, where it can operate independently of ANP.

Silk gland factor-1 involved in the regulation of Bombyx sericin-1 gene contains fork head motif.

Silk gland factor-1 (SGF-1) regulates transcription of the Bombyx sericin-1 gene via interaction with the SA site. In this study, two related SGF-1 polypeptides of apparent molecular masses of 40 and 41 kDa were purified. Specific interaction of these proteins with the SA site was demonstrated by electrophoretic mobility shift and dimethyl sulfate methylation interference assays. The SGF-1 40-kDa protein was partially sequenced and characterized as a new member of the fork head/HNF-3 family. Several full-length cDNAs encoding the SGF-1 40-kDa and possibly also the 41-kDa proteins were cloned and sequenced. SGF-1 mRNA is expressed consistently with the presumed role of the SGF-1 protein product in regulating the sericin-1 gene. The SGF-1 protein contains putative transactivation domains. We conclude that the 40- and 41-kDa SGF-1 proteins affect transcription of the sericin-1 gene via binding to the SA site.

A clinical study of amiodarone as a single oral dose in patients with recent-onset atrial tachyarrhythmia.

Forty-five patients with recent-onset sustained atrial tachyarrhythmia (mean heart rate at entry; 140.0 +/- 3.5 beats.min-1) associated with various cardiovascular diseases were treated by oral amiodarone, given as a single loading dose of 25.7 +/- 0.9 mg.kg-1 body weight. Conversion to sinus rhythm was observed in 29 patients during the first 24 h of treatment, leading to a success rate of 64.4%. Five additional patients converted to sinus rhythm with continuation of oral amiodarone, (10-15 mg.kg-1 by day) with a mean delay of 4.2 days. A similar population of 27 patients (mean heart rate at entry; 140 +/- 3 beats.min-1) was treated by intravenous amiodarone, given as a bolus infusion of 3-5 mg.kg-1 over 30 min (mean; 4.1 +/- 0.2 mg.kg-1), followed by a continuous infusion of 10-15 mg.kg-1 for 24 h (mean; 11.1 +/- 0.7 mg.kg-1). Eighteen patients converted to sinus rhythm during the first 24 h of therapy, leading to a success rate of 66.7%. Minor adverse effects of therapy were observed in two patients given oral amiodarone, and in seven given intravenous amiodarone. No major effect was observed. We suggest that amiodarone given as a single oral loading dose of 25-30 mg.kg-1 body weight is an effective, simple and well-tolerated therapy, suitable for most patients with recent-onset ATA.

A clinical study of intravenous cibenzoline in selected patients with recent-onset atrial tachyarrhythmia.

Twenty-five adult patients with sustained atrial tachyarrhythmia (ATA) and without heart failure were treated by intravenous cibenzoline, 1 mg/kg, as a slow bolus infusion, followed by a 8 mg/kg/24 h continuous infusion. Sinus rhythm conversion was observed in 18 patients (72 percent success rate). Severe adverse cardiac events were observed in only one patient (4 percent occurrence rate), as a wide QRS complex tachycardia finally requiring a semiemergency direct-current cardioversion. Two minor side effects were additionally observed. A similar population of 21 patients was conventionally treated with amiodarone, either given intravenously, 15 to 20 mg/kg/24 h, or orally, 30 mg/kg/24 h as a single dose. An identical success rate (15/21; 71 percent) was observed. Our results indicate that in selected patients with ATA, cibenzoline and amiodarone are highly effective for producing sinus rhythm conversion. We suggest that the former drug may be used as a first-line treatment. In case of failure, the latter may constitute an alternative to transthoracic electrical countershock.