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Biomedical subjects

B Zieger

Publications and source records attributed to B Zieger.

At least 19 recordsLinked to original sources

Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5.

The septin SEPT11 is a novel member of the highly conserved septin family. Septins are cytoskeletal GTPases, which form heteropolymeric complexes. They are involved in cytokinesis and other cellular processes, such as vesicle trafficking and exocytosis. SEPT11 has strong homology to SEPT8. Previously, we identified the interaction of SEPT5 and SEPT8. Using the yeast two-hybrid system, we now demonstrate that SEPT11 partners with SEPT5. The molecular interaction of SEPT11 with SEPT5 was verified by coprecipitation of SEPT5 and SEPT11 from lysates of the human T-cell leukaemia cell line JURKAT and by fluorescence resonance energy transfer. The interaction between SEPT5 and SEPT11 requires the GTP-binding domain and the C-terminal extension. Western analysis in various mouse and human tissues revealed that expression of SEPT11 is restricted to the same tissues as those expressing SEPT5, suggesting that SEPT11 and SEPT5 are components of a cell-specific septin complex. SEPT5, which is expressed in human umbilical vein endothelial cells (HUVECs), has been reported to play an important role in exocytosis. We now report that HUVECs also express SEPT11. Given the interactivity between SEPT5 and SEPT11 as shown above and their coexpression in HUVECs, it may be that a complex formed by these two proteins is involved in the exocytosis mechanism in HUVECs.

Animals↗

[Reference radiology in nephroblastoma: accuracy and relevance for preoperative chemotherapy].

PURPOSE: A reference radiologic diagnosis was carried out for the purpose of quality control and in order to achieve high diagnostic accuracy in the ongoing trial and study SIOP 2001/GPOH for renal tumors during childhood. The aim of the present study is to evaluate the value of diagnostic imaging and the benefit of reference evaluation at a pediatric radiology center. MATERIALS AND METHODS: In 2004 the imaging studies of 97 patients suspected of having a renal tumor were presented at the beginning of therapy. Diagnostic imaging was compared to the primary imaging results and the histological findings and was analyzed in regard to the therapeutic consequence (primary chemotherapy without prior histology). 77 MRI, 35 CT and 67 ultrasound examinations of 47 girls and 50 boys (mean age 4 years; one day to 15.87 years old) were analyzed. In addition to the histological findings, the reference pathological results were submitted in 86 cases. Results from the primary imaging corresponding to the histology and results from the reference radiology corresponding to the histology were statistically compared in a binomial test. RESULTS: In 76 of the reference-diagnosed Wilms' tumors, 67 were confirmed histologically. In 72 cases preoperative chemotherapy was initiated. In 5 cases neither a Wilms' tumor nor a nephroblastomatosis was found. 16 of 21 cases (76 %) with reference-diagnosed non-Wilms' tumors were selected correctly. The results of the primary imaging corresponded to the histology in 71 cases, and those of the reference radiology in 82 cases. The statistical evaluation showed that the results of the reference radiology were significantly better (p = 0.03971). CONCLUSION: Reference radiological evaluation improved the diagnostic accuracy with therapeutic relevance. The differentiation of different renal tumors is not completely possible using imaging methods. The rate of patients with false preoperative chemotherapy for all renal neoplasms is currently 5.2 % and 1 % for benign renal tumors.

Antineoplastic Agents↗

[Radiologic differentiation of rhabdoid tumor from Wilms' tumor and mesoblastic nephroma].

Differentiation between rhabdoid tumor (RT) and mesoblastic nephroma (MN) and Wilms' tumor (WT) by imaging studies in babies and young children before histological confirmation is useful to start optimal treatment early. Typical radiologic criteria (crescent-shaped subcapsular liquid areas, tumor lobules, blurred tumor borders, metastasis in the lung, and regional lymph nodes) are described. The results of 26 MRI, 30 CT, and 22 ultrasound examinations of 49 patients (22 RT, 19 WT, and 8 MN, age 2-57 months) were analyzed. The above-mentioned radiologic criteria were classified with score values. The score value distribution was analyzed between the tumor entities and by two investigators.RT had significantly higher score values than the MN and WT. The difference between the two investigators was not significant. As a group RT differentiates from the group of WT and MN, but this is not possible in single cases with the radiologic criteria employed. Only if more signs are observed together in one case can a RT be presumed, which may indicate an early biopsy before chemotherapy.

Child, Preschool↗

[Rhabdoid tumors of the kidney in childhood].

PURPOSE: The primary diagnosis of renal masses in children is made by imaging studies. This retrospective analysis describes the imaging features of rhabdoid tumors (RT) with US, CT and MRI, to point out characteristics and to evaluate the possibility of differentiation between RT and Wilms tumor. MATERIALS AND METHODS: We reviewed 10 MRI (6 STIR, 9 T1 w, 8 T2 w, 10 T1 post KM), 15 CT (9 Nativ-CT, 14 KM-CT) and 14 US images of 22 patients (age 2 - 57 months) with histopathologically confirmed RT. The following characteristics were evaluated: subcapsular fluid collection, multiple tumor lobules, presence of calcification, primary tumor size, visibility of tumor margin, tumor necrosis and metastases. RESULTS: The mean total tumor volume was 238 ml. 19 RT were located in the perihilar/medullary region with invasion of the renal hilum, and 5/22 tumors showed multiple tumor lobules. Subcapsular fluid collection was found in 6/22 cases. Calcifications were present in 6/19. Eleven tumors were well defined from the renal parenchyma, 9 poorly defined, 2 could not be assessed. In 19/22 cases tumor necrosis was found. Distant metastases were seen in 8 cases in the lung, in 3 cases in the CNS. Metastases of regional lymph nodes were seen in 9 cases. CONCLUSION: The evaluated characteristics frequently found in RT are not indicative of these tumors. RT cannot clearly be differentiated from Wilms tumor by imaging studies. Because of frequent involvement of the CNS and lung, a MRI of the CNS and CT of the lung is indicated after histopathologic diagnosis of RT is made.

Child, Preschool↗

[Acute hematogenous osteomyelitis--exclusion with Turbo-STIR sequence?].

The timely diagnosis and early initiation of antibiotic therapy determine the clinical course of an acute hematogenous osteomyelitis. Consequently, a fast and efficient MRI examination protocol is crucial. We retrospectively evaluated various MR sequences used in the examination of 8 children having osteomyelitis. The examinations were conducted using a 0.5 T MR machine. All patients had a high signal intensity of the lesion in the IR sequence with fat suppression (turbo-STIR). An acute osteomyelitis can be excluded in the absence of signal intensity increase in the turbo-STIR sequence without the necessity of having to perform additional sequences.

Acute Disease↗

Reduction in voiding cystourethrographies after the introduction of contrast enhanced sonographic reflux diagnosis.

BACKGROUND: Voiding urosonography (VUS) using the intravesical application of an US contrast medium (Levovist) has been shown to have very high sensitivity and specificity in the diagnosis of vesicoureteric reflux (VUR) compared to voiding cystourethrography (VCUG). OBJECTIVE: To determine the extent of reduction of VCUGs after adding VUS to the diagnostic algorithm of VUR. MATERIALS AND METHODS: Over 2 years, 449 children (162 boys, 287 girls) were referred for diagnosis of possible VUR. The selection of a particular reflux examination was based on pre-defined criteria. VUS was performed primarily in girls and follow-up cases. The indications for VCUG were as follows: (a) boys - first examination for VUR, (b) specific request for urethra or bladder imaging, (c) girls - when VUR was diagnosed in the VUS and no VCUG had been done previously, and (d) inadequate VUS. RESULTS: VCUGs were primarily carried out in 141 cases. VUSs were performed in 308 patients. In 69 of these patients a VCUG followed during the same examination session. Thus 239 of 449 patients underwent only VUS, resulting in reduction of the VCUGs by 53 %. CONCLUSIONS: The number of VCUGs was significantly reduced as a result of the implementation of VUS as part of the routine diagnostic imaging modality for VUR. Consequently, the number of children that would have been exposed to ionising radiation was reduced by over half.

Adolescent↗

Internal jugular venous valves in children: high-resolution US findings.

The aim of this study was to determine in children the prevalence rate and to describe the sonographic morphology of the valves in the internal jugular veins. One hundred twenty children (60 boys and 60 girls; mean age +/- SD 10 +/- 4 years, age range 3-20 years) were recruited for the study. They underwent sonographic examination of both internal jugular veins. The number of valvular cusps, the length of the cusps and exact site of origin were recorded. In 96% of the children a valve was found in one or both internal jugular veins. Within this group a valve was detected unilaterally in 26% and bilaterally in 74% of the cases. Ultrasound morphological and morphometric analysis was carried out in a total of 239 internal jugular veins; 200 (84%) veins were found to have valves. The origin of the cusps was located at a mean distance of 9 mm (0-26 mm) proximal to the confluence of the subclavian and internal jugular veins into the brachiocephalic vein. A valve in the distal part of the internal jugular vein is a very common finding with characteristic features on US.

Adolescent↗

Contrast-enhanced harmonic imaging for the diagnosis of vesicoureteral reflux in pediatric patients.

OBJECTIVE: Harmonic imaging using phase or pulse inversion technology is a new sonographic diagnostic modality that has the potential to produce images of a higher quality than can be obtained with the conventional method. The aim of this study was to compare both types of harmonic modalities--tissue and contrast harmonic imaging--with the fundamental imaging mode in contrast-enhanced B-mode sonographic diagnosis of vesicoureteral reflux. SUBJECTS AND METHODS: Fifty-four children presenting for diagnostic examination of vesicoureteral reflux underwent standard sonography of the urinary tract in the fundamental mode, followed by intravesical administration of a galactose-based contrast medium containing microbubbles. The contrast-enhanced sonography was conducted by scanning the bladder and each kidney in transverse and longitudinal planes, from ventral and dorsal views, consecutively in B-mode using fundamental, contrast harmonic, and tissue harmonic imaging modalities. Soft-touch buttons on the console screen were used to alternate between the three imaging options, so that switching from one modality to the other could be done almost instantaneously. For comparison, in each patient, we selected one set of contrast-enhanced images of the bladder and two sets, one ventral and one dorsal, of the kidney. In a series, the images were compared and ranked from 1 to 3, with 1 being the best, with regard to sonomorphology (demarcation of the retrovesical space and renal pelvis as the potential sites to look for vesicoureteral reflux) and reflux detection and conspicuity, if present. RESULTS: In all, 248 sets of images were available for comparison. The delineation of both the retrovesical space and the renal pelvis was found to be best with tissue harmonic imaging in 84% and 96% of the image sets, respectively (p < 0.01). Forty-one sets of images were compared from 27 kidney-ureter image units of 22 children (41%) with reflux. The refluxing microbubbles were much more conspicuous in the harmonic imaging mode (tissue harmonic, 100%; contrast harmonic, 93%) than in the fundamental mode (p < 0.01). In eight kidney-ureter units, the reflux was detected only by using the harmonic imaging modalities. CONCLUSION: Visualization of the urinary tract and detection of ultrasound contrast media is significantly improved by the use of the harmonic imaging modalities. When both fundamental and harmonic imaging options are available, we recommend harmonic imaging for contrast-enhanced sonographic diagnosis of vesicoureteral reflux.

Adolescent↗

Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2.

The presence and role of septin proteins in yeast is well documented, but there is a growing appreciation for this family of proteins beyond yeast and extending to human cells. In this report we present the characterization and comparison of two highly similar human septin genes, PNUTL1 and PNUTL2. We compare the exon/intron structure of both genes, the steady-state mRNA levels in tumor cell lines and adult organs, the conceptual translation products from alternatively processed mRNAs and the development of specific immunologic reagents distinguishing either PNUTL1 or PNUTL2. The results illustrate a remarkable similarity between the two genes and their protein products while identifying specific differences in mRNA expression patterns. A summary of the described functional roles for mammalian septins is discussed along with an attempt to assimilate the alternative nomenclature existing for the same human septins, such as references to PNUTL1 and PNUTL2 as hCDCrel-1 and hCDCrel-2, respectively. The characterization of PNUTL1 and PNUTL2 represents a fundamental step in completing the characterization of the entire family of human septin genes.

Amino Acid Sequence↗

Can monovalent hepatitis A and B vaccines be replaced by a combined hepatitis A/B vaccine during the primary immunization course?

A combined hepatitis A/B vaccine (Twinrix Adult) has been licensed in Germany since 1997. We investigated possible differences in immunogenicity and safety when changing over from vaccinations with monovalent vaccines made by different manufacturers to vaccinations with the combined hepatitis A/B vaccine in an open, randomized, multicenter trial. We therefore compared four different schemes changing over from concomitant vaccinations with monovalent vaccines against hepatitis A and B (Havrix 1440+Engerix-B or Vaqta+Gen H-B-Vax) to combined vaccination against hepatitis A+B with three injections of the combined hepatitis A/B vaccine (0, 1, and 6 month schedule). Local and general symptoms were mostly mild in all five groups. With complete three-dose course using the combined vaccine or an early changeover from monovalent vaccines to the combined vaccine, higher overall anti-HBs seroprotection rates and geometric mean concentrations (GMCs) against hepatitis B could be achieved as early as after 2 months as compared to those groups switching later to the combined vaccine. This study demonstrated for the first time that switching from monovalent hepatitis A and B vaccinations to the combined hepatitis A and B vaccination has no negative influence on the tolerability and improves the immunogenicity.

Adolescent↗

Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate.

UNLABELLED: A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis. CONCLUSION: Osteopetrosis is an important differential diagnosis of neonatal rickets and is not excluded by low vitamin D levels.

Female↗

[Hypertrophic pyloric stenosis: sonographic monitoring of conservative therapy with intravenous atropine sulfate].

AIM: Ultrasound is the method of choice for the diagnosis of hypertrophic pyloric stenosis (HPS). The purpose of this study was to evaluate the usefulness of sonography in monitoring the efficacy of conservative therapy of HPS with intravenous atropine sulfate. METHOD: 21 infants with HPS under i.v. treatment with atropine sulfate were included. Pyloric sonomorphology, channel width and passage of gastric contents through the pyloric channel were monitored daily. The latter was examined with colour Doppler, too. If no clinical improvement was observed after 6-8 days, sonography and colour Doppler sonography played a crucial role in the decision whether to continue the conservative therapy or to perform pyloromyotomy. RESULTS: Conservative treatment was effective in 13/21 infants. In 8 patients therapy was continued as sonography demonstrated the passage of gastric contents despite lack of clinical improvement. In 4 patients, due to the sonographic findings, impending surgery could be cancelled. Colour Doppler sonography proved to be extremely useful in demonstrating passage of liquid through the narrowed pyloric channel. No significant change in pyloric morphology was seen. CONCLUSION: In HPS a conservative therapeutic approach with atropine sulfate is justified considering a success rate of 62% (13/21). During sonographic monitoring the detection of the passing of gastric content may be crucial for continuation and success of conservative therapy. In those cases colour Doppler sonography is a very useful method.

Atropine↗

Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families.

Von Willebrand disease type 2M "Vicenza" (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of "supranormal" multimers in plasma. This specific phenotype has been described in Italian and recently also in German patients. The molecular defect is linked to the VWF gene. However, no specific mutations have been identified until now. We analysed the complete coding region and adjacent intron sequences of the VWF gene in Italian families in comparison to German families with VWD 2M V by a PCR-based mutation screening, combined with SSC- and heteroduplex-analysis of exons 2 through 52, followed by direct sequencing. We identified the first heterozygous candidate mutation (G3864A; R1205H) in all affected members of the 7 Italian families and in 1 German patient but not in the unaffected family members nor on 100 chromosomes of normal subjects, suggesting a causal relationship between the mutation and the phenotype. Haplotype identity, with minor deviations in one Italian family, suggests a common but not very recent genetic origin of R1205H.

Female↗

[Skull and brain injuries in children].

Our contribution reviews the diagnostic algorithm of head injuries in children. According to the Heidelberg consensus on head injury, patients should be divided into three risk groups. In low-risk patients clinical observation is the method of choice and radiological examinations are usually unnecessary. Patients at medium risk should be observed carefully. Sometimes neurosurgical consultation or CT is necessary. High risk patients in most instances need CT and neurosurgical consultation. Skull X-ray is helpful only in selected cases. A simple fracture as demonstrated by skull X-ray has no therapeutic consequence. However, normal findings in skull X-ray do not exclude intracranial injury. CT is the method of choice to detect intracranial hemorrhage, epi- or subdural hematoma and cerebral contusion. If patients present with severe clinical deficits, CT allows characterization of lesions and initiation of specific therapy.

Brain Injuries↗

[Foreign body ingestion].

Foreign body ingestion is not infrequent in infants and children. The diagnosis of radiopaque foreign body ingestion does not pose a major problem. It is crucial to take an X-ray from the pharynx to the level of the pylorus. If a foreign body that might get stuck at the ileocoecal valve is ingested, it is necessary to perform a radiograph of the whole abdomen. Foreign bodies that do not pass the cardia must be extracted endoscopically. In the case of foreign bodies with a smooth contour that have passed the pylorus, parents are advised to check the child's stool or collect it and bring it for X-raying. If after a week there is no definite evidence that the foreign body has been excreted a follow-up radiograph is carried out. If the foreign body is still in the stomach or duodenum, endoscopy is necessary. The detection of nonopaque foreign bodies can be facilitated by giving oral contrast medium, making the depiction of the foreign body as a filling defect possible. As a complication, perforation can occur, the diagnosis of which may entail the use of sonography, conventional radiography and, to a lesser extent, CT.

Child↗

Reflux in young patients: comparison of voiding US of the bladder and retrovesical space with echo enhancement versus voiding cystourethrography for diagnosis.

PURPOSE: To compare the usefulness of voiding US of the bladder and retrovesical space with echo enhancement with that of voiding cystourethrography (VCUG) for diagnosis of vesicoureteral reflux (VUR) and to assess patient tolerance of the echo-enhancing agent. MATERIALS AND METHODS: One hundred eighty-eight patients (aged 5 days to 20 years) referred for investigation of VUR underwent voiding US with echo enhancement, which was followed by VCUG in 110 patients (226 kidney-ureter units). After US of the renal tract, the bladder was filled with normal saline solution. Then SU U 508 A, a galactose-based, microbubble-containing echo-enhancing agent, was administered. Reflux was diagnosed when microbubbles appeared in the ureter or pelvicalyceal system. RESULTS: VUR was detected in 80 of the units with one (n = 18) or both (n = 62) methods. All grades of reflux were identified. In 15 units, reflux diagnosed at voiding US was not observed at VCUG; the reverse was true in three units. In 208 (92%) of the 226 kidney-ureter units, there was concordance between the two methods regarding the diagnosis or exclusion of VUR. The echo-enhancing agent was well tolerated. CONCLUSION: SH U 508 A enhanced voiding US is as good as VCUG in the detection or exclusion of VUR and thus will make it possible to reduce the number of children having to be exposed to ionizing radiation.

Adolescent↗