[Solid pediatric tumors : A brief survey of the rarity cabinet]. / Solide Kindertumoren : Ein Streifzug durch das Raritätenkabinett.

Solid tumors in childhood are extremely rare entities, which are usually treated in specialized centers. Diagnosis and therapy are carried out according to a joint European protocol, whereby the pathological evaluation and therapy are carried out according to international guidelines. For the correct diagnosis and/or therapy of most tumors, analysis of specific genetic changes is mandatory; therefore, tumors have to be adequately sampled for parallel genetic analysis during the pathological work-up. A second opinion reference of the histopathological assessment is part of the international guidelines. Neuroblastomas, congenital mesoblastic nephromas and rhabdoid tumors are examples of solid tumors in childhood that are not restricted to one organ and occur exclusively during childhood.

The impact of PET and PET/CT on treatment planning and prognosis of patients with NSCLC treated with radiation therapy.

AIM: 18F fluoro-deoxy-glucose (FDG) positron emission tomography (PET)-imaging improves the diagnostic accuracy in staging non small cell lung cancer (NSCLC) with possible impact on survival. This prospective study aimed to investigate the impact of PET and PET/CT on treatment planning and prognosis in patients with NSCLC treated with radiation therapy. METHODS: From October 2003 to January 2008, 91 consecutive patients with proven NSCLC stage T1-4N0-3M0 (clinical stages: I-IIIb) underwent accelerated, twice daily radiation therapy in target splitting technique. 70 patients received chemotherapy before radiation therapy (76%). All patients underwent PET or PET/CT-imaging and were followed up for a median time of 30 months. Imaging findings were interpreted visually and a SUV cut-off of 2.5 was applied for delineation of tumor borders. Changes in staging and planning treatment volumes (PTV) due to PET or PET/CT-imaging and survival were defined as primary study endpoints. The impact of tumor-type, stage, age, gender, weight loss and FDG-uptake in PET imaging as measured by the standardized uptake value (SUV) on survival were analysed as secondary endpoints. RESULTS: PET imaging provided additional diagnostic information over CT alone in 20% (N.=18) of our study population, leading to upstaging in 17% of them, respectively. In 5 patients (5.5% of 91) atelectasis could be separated from tumor tissue, PTV was altered in 9% (N.=8). 39 patients (43%) died during the observation period, mean overall survival was 32.3 months (95% Confidence intervalI 27.6-37.1) and tumor specific survival was 36.9 months (95 % CI 32.0-42.0), respectively. One- and two year survival rates reached 90.1% and 67.7%, respectively. Multivariate analysis did not reveal any significant prognostic impact of tumor-type, stage, age, gender or FDG-uptake as given by SUVmax (mean 13.6±6.8) or SUVmean (mean 5.5±1.6). CONCLUSION: The use of FDG-PET- and PET/CT-imaging provided incremental information relevant for treatment-planning in about 10 % of patients with NSCLC undergoing accelerated radiation therapy with curative intent. This prospective trial did not provide evidence for the assumption that the SUV might be an independent predictor of outcome.

Neonatal haemochromatosis associated with gastroschisis.

We describe, to our knowledge, the first case of progressive neonatal liver failure due to neonatal haemochromatosis (NH) occurring in an infant with a gastroschisis and review the literature regarding these two conditions. A 1,665 g male infant with antenatally diagnosed gastroschisis was born with a severe coagulopathy, anaemia, thrombocytopenia, hypoglycaemia and jaundice. He developed progressive liver failure, complicated by necrotising enterocolitis. Serum ferritin was elevated at 1,459 microg/L. He died on day 40 and a limited post-mortem examination confirmed significant hepatic siderosis with fibrosis and cholestasis, and siderosis of the pancreas. Although no genetic aetiology for gastroschisis has been identified, an occasional inherited tendency has been observed. There is also evidence to support an autosomal recessive inheritance in NH.

[Diagnosis of intraocular foreign bodies in multidetector-CT: influence of acquisition parameters on radiation dose and detectability]. / Intraokulare Fremdkörperdiagnostik in der Multidetektor-CT: Auswirkung der Akquisitionsparameter auf Strahlendosis und Erkennbarkeit.

PURPOSE: Determination of the influence of acquisition and reconstruction parameters on radiation dose and detectability of intraocular foreign bodies using multidetector CT (MDCT). MATERIALS AND METHODS: Porcine eyes with intraocular foreign bodies of a 0.3-mm quartz fiber and a 0.1-mm steel wire as well as 0.5 ml of blood in the vitreous were investigated using MDCT. The tube current was 500, 250, 100, and 50 mAs; the collimation was 16 x 0.75 mm and 16 x 1.5 mm; and the pitch was 0.5 and 0.75. Image reconstruction was performed using a soft tissue (H30), a bone algorithm (H60 s), and thin (0.7 and 2 mm, respectively) and thick (2 and 4 mm, respectively) reconstruction increments. The resulting data sets were then used to determine the signal difference to noise ratio (SDNR) between the foreign body and adjacent vitreous. RESULTS: Changes in tube current resulted in a proportional change in the radiation dose but only in the SDNR within a range of 1:2. Reducing the collimation from 1.5 mm to 0.75 mm resulted in a doubling of the SDNR at an approximately identical radiation dose. The series with a lower pitch at the same dose per volume showed a slightly higher SDNR. Reconstruction using a bone algorithm and thin increments resulted in an increase in the mean SDNR by a factor of 1.8 to 2.3. CONCLUSION: When diagnosing small intraocular foreign bodies using MDCT, the following parameters can yield an adequate SDNR while minimizing radiation exposure: tube current 50 mAs, pitch 0.5, collimation 16 x 0.75, bone algorithm, and reconstruction increment 0.7 mm.

Numerical simulation of carotid hemodynamics in patients with rotary blood pump cardiac assist.

In recipients of rotary blood pumps for cardiac assist, the pulsatility of arterial flow is considerably diminished. This influences the shear stress patterns and streamlines in the arterial bed, with potential influence on washout and subsequent plaque growth. To study these effects, a three-dimensional computer simulation of the carotid bifurcation at various levels of flow pulsatility was performed. The results showed that as expected pulsatile shear stress varied considerably, whereas local mean shear stress levels were nearly identical for all degrees of pulsatility. Particle residence time in the carotid bulb did only increase for less than 15%, with secondary washout patterns contributing to good washout also in nonpulsatile conditions. It is concluded that also under continuous pump support the local flow patterns in the carotids provide sufficient washout and fluid exchange to prevent excessive plaque growth.

Galactography: method of choice in pathologic nipple discharge?

Our objective was to assess the role of galactography in the diagnostic work-up of patients with pathological nipple discharge together with exfoliative cytology, and investigation of secretion colour. All galactographies performed in this center between 1993 and 1998 were evaluated retrospectively. In 134 cases, outcomes, defined as either a postoperative histology or a negative follow-up over 2 years after galactography, were available. In 96 of these cases, exfoliative cytology was performed, and in 65 cases the colour of the secretion was determined. Galactograms, cytological findings and colour of the secretions were compared with the outcomes. At galactography, the radiographic findings had the following individual sensitivities/specificities in detecting carcinomas: filling defect 55.6%/62.1%; ductectasia 22.2%/94%; and filling stop 5.6%/77.6%. Normal galactograms (n=33, 25%) had a sensitivity of 78% and a specificity of 93% in predicting absence of disease. Technically inadequate investigations occurred in 16 (12%) cases. Cytology showed 69.2%/66.8% for papillomatous borderline or malignant cells; 53.8%/75.3% for borderline or malignant cells; and 7.7%/100% for one case of malignant cells. For the assessment of pathological secretions, galactography is a sensitive but unspecific method for the detection of papillomas or carcinomas. Filling defects, ductectasia and ductal distortion carry the highest levels of suspicion for carcinoma. A normal galactogram is a specific yet moderately sensitive indicator of absence of localized disease. Exfoliative cytology shows low sensitivity but better specificity for carcinomas when borderline or malignant cells are found. In the present series, the colour of the secretions does not add significant information about underlying pathology.

CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.

We have recently shown that the CHEK2*1100delC mutation acts as a low penetrance breast cancer susceptibility allele. To investigate if other CHEK2 variants confer an increased risk of breast cancer, we have screened an affected individual with breast cancer from 68 breast cancer families. Five of these individuals were found to harbour germline variants in CHEK2. Three carried the 1100delC variant (4%). One of these three individuals also carried the missense variant, Arg180His. In the other two individuals, missense variants, Arg117Gly and Arg137Gln, were identified. These two missense variants reside within the Forkhead-associated domain of CHEK2, which is important for the function of the expressed protein. None of these missense variants were present in 300 healthy controls. Microdissected tumours with a germline mutation showed loss of the mutant allele suggesting a mechanism for tumorigenesis other than a loss of the wild type allele. This study provides further evidence that sequence variation in CHEK2 is associated with an increased risk of breast cancer, and implies that tumorigenesis in association with CHEK2 mutations does not involve loss of the wild type allele.

Predictors of long-term results after treatment of iliac artery obliteration by transluminal angioplasty and stent deployment.

PURPOSE: To investigate initial and long-term success rate after percutaneous treatment of iliac artery occlusion with angioplasty and stent deployment. To investigate the influence of vascular comorbidity, lesion length, stent placement and lesion coverage as possible predictors of outcome. METHODS: Between January 1994 and December 1999, 80 iliac recanalizations were performed on 78 patients, median age 61.1 +/- 11.5 (SD) years. All patients were followed up by clinical examinations, duplex ultrasound and intravenous digital subtraction angiography. Mean follow-up time was 2.0 +/- 1.53 (SD) years. Multivariate Cox regression analysis was used to determine the influence of cofactors on patency. RESULTS: One, 2 and 4 years after recanalization, primary patency was 78.1%, 74.5% and 64.0%; secondary patency was 88.8%, 88.8% and 77.9%, respectively. Patients with shorter occlusions, complete lesion coverage and patent ipsilateral femoral arteries had significantly longer patency rates. Complications included inguinal hematoma (n=1), technical failure (n=3) aortic dissection (n=1), embolic occlusions (n=7), gluteal claudication (n=1) and genital necrosis after subsequent urethral surgery in one patient with contralateral occlusion and ipsilateral overstenting of the internal iliac artery with subsequent stenosis. Complications were of permanent clinical significance in seven of 78 (9%) of the patients. In 17 (22%) cases, percutaneous reintervention was performed with angioplasty in the stent (n=16) or deployment of a new stent (n=1). CONCLUSION: Endoluminal stent placement has its place in an interdisciplinary therapeutic approach as a viable therapeutic alternative to major transabdominal bypass surgery and can be performed with comparable complication rates. Patients with short occlusions, patent femoral arteries, and stents covering the entire occlusion have significant longer patency.

Halo size under distance and near conditions in refractive multifocal intraocular lenses.

AIMS: To calculate the diameter of halos perceived by patients with multifocal intraocular lenses (IOLs) and to stimulate halos in patients with refractive multifocal IOLs in a clinical experiment. METHODS: Calculations were done to show the diameter of halos in the case of the bifocal intraocular lens. 24 patients with a refractive multifocal IOLs and five patients with a monofocal IOL were asked about their subjective observation of halos and were included in a clinical experiment using a computer program (Glare & Halo, FW Fitzke and C Lohmann, Tomey AG) which simulates a light source of 0.15 square degrees (sq deg) in order to stimulate and measure halos. Halo testing took place monoculary, under mesopic conditions through the distance and the near focus of the multifocal lens and through the focus of the monofocal lens. RESULTS: The halo diameter depends on the pupil diameter, the refractive power of the cornea, and distance focus of the multifocal IOL as well as the additional lens power for the near focus. 23 out of 24 patients with a refractive multifocal IOL described halos at night when looking at a bright light source. Only one patient was disturbed by the appearance of halos. Under test conditions, halos were detected in all patients with a refractive multifocal IOL. The halo area testing through the distance focus was 1.05 sq deg +/- 0.41, through the near focus 1.07 sq deg +/- 0.49 and in the monofocal lens 0.26 sq deg +/- 0.13. CONCLUSIONS: Under high contrast conditions halos can be stimulated in all patients with multifocal intraocular lenses. The halo size using the distance or the near focus is identical.

Tritan colour contrast sensitivity function in refractive multifocal intraocular lenses.

AIMS: To compare tritan colour contrast sensitivity (CCS), without and with glare, in patients with refractive multifocal intraocular lenses (IOLs) and with monofocal intraocular lenses. METHODS: Tritan CCS was determined (Moorfields Vision System, CH Electronics) in 15 eyes (14 patients, 75.7 (+/-6.6) years) with a refractive multifocal IOL (Allergan SA 40N) and in 11 eyes (10 patients, 73.7 (+/-6.4) years) with a monofocal IOL (Allergan SI 40 NB). Measurements were made monocularly under mesopic conditions at a distance of 2 metres from the monitor with best distance refraction plus 0.5 D at 0.5, 1, 3, 6, 11.4, and 22.8 cycles per degree (cpd). The test was then repeated for the multifocal IOLs, adding minus 2.5 D to the best distance refraction to force the patient to use the near focus. Both lenses were also investigated under glare conditions with the same set-up and using the brightness acuity tester (BAT). RESULTS: The tritan CCS function without glare in multifocal lenses through the distance focus was nearly identical to that through the near focus. The following statistically significant differences were measured: the CCS function without glare for the multifocal lens was worse at 0.5 cpd and 1.0 cpd than that of the monofocal lens. In CCS testing of the multifocal group with glare at 6 cpd, the results through the distance focus were better than the results through the near focus. For the CCS function with glare, the values for the distance focus in the multifocal lens were worse than the values for the monofocal lens at 0.5 cpd and 1 cpd. In CCS testing with glare through the near focus and CCS testing through the monofocal lens, the monofocal lens performed better at 0.5 cpd, 1 cpd, 3 cpd, and 6 cpd. CONCLUSION: Refractive multifocal intraocular lenses influence tritan CCS function compared to monofocal lenses.

[Evaluation of a computer-assisted diagnosis system in breast carcinoma]. / Evaluierung eines computerassistierten Diagnosesystems in der Erkennung des Mammakarzinoms.

PURPOSE: Evaluation of a computerassisted diagnosis (CAD) system (R2 linage Checker 1.2). Comparison of the results of three readers with and without knowledge of the computer results. MATERIALS AND METHODS: The mammograms of 52 patients, bilaterally in two planes each, with histologically proven carcinoma of the breast were included in the study. They were first scanned by the CAD machine and subsequently read by three readers with different degrees of experience in two sessions with and without knowledge of the computer results. RESULTS: Of the 91 views of carcinomas, the readers detected 96%, 89%, and 85%, respectively. With CAD, the values rose to 97%, 93%, and 96%. The increase of the first observer was not significant. As for the 49 areas of malignant microcalcifications, the first reader showed a significant decrease of sensitivity, the other two readers showed no significant change. The sensitivity of CAD was 74% for masses and 86% for microcalcifications at a rate of 1.8 false positive markers per image. All but two tumors were correctly marked in at least one plane. CONCLUSIONS: Use of the CAD machine led to a significant increase of sensitivity in the detection of malignant masses by two of three observers. In the case of malignant microcalcifications, and for the most experienced observer, CAD did not improve the results. The most important problem is the high rate of false positive markers.

Quiz case 10. Metastasising retroduodenal gastrinoma.

A 37-year-old male patient with no significant past medical history presented with a 6-month history of intermittent epigastric pain which was partially relieved by antacid medication. Gastroscopy showed a peptic ulcer and the biopsies that were taken did not show signs of malignancy. Conservative treatment was initiated, but healing was prolonged, and the epigastric pain persisted. The patient was referred to our department for further diagnosis.

[Acatalasemia--Takahara's disease]. / Akatalasämie--Morbus Takahara.

The case of a 30 year old man with acatalasemia is presented. The congenital disorder is charaterized by a lack or major reduction of catalase, an enzyme that catalyzes the decomposition of hydrogen peroxide to oxygen and water. The defect is inherited in an autosomal recessive fashion. Occasionally the defect manifests as progressive oral gangrene or Takahara's, disease.

[Computer-assisted diagnosis in mammography: the R2 ImageChecker System in detection of spiculated lesions]. / Computerassistierte Diagnose in der Mammographie: Das R2 Image Checker-System in der Detektion spikulierter Läsionen.

Because of the rapid development of computer systems for digitalization and image analysis, they play an increasing important role in computer-assisted diagnosis (CAD). Especially in the field of mammography, the early signs of malignancy are relatively uniform and therefore more easily detected by a computer algorithm. In this study, we tested one of the few commercially available systems for the detection of both microcalcifications and suspicious, spiculated solid lesions on 40 cases of proven breast carcinomas. These mammograms were analyzed by three independent observers with and without knowledge of the computer results, respectively. Depending on the time of their radiologic experience, the sensitivity of the observers alone was 92.4%, 86.1% and 82%. With knowledge of the computer interpretation, sensitivity of all three observers rose significantly to 100%, 92.7%, and 95%, respectively. However, due to a high number of false positive results of the computer algorithm (0.4 markers per image), the positive predictive value of the interpretations worsened from 100%, 92.7%, and 95.5% to 86.4%, 97.3%, and 91.1%, respectively. It can be expected that future developments will soon overcome this problem and CAD will become an effective tool in screening mammography.

Sequential treatment of recurrent mesenteric desmoid tumor.

BACKGROUND: The optimal management of inoperable desmoid tumors is still unclear. We report a 26 year-old female patient with familial adenomatous polyposis suffering from a recurrent inoperable intraabdominal desmoid tumor and its sequential treatment. METHODS: Treatment strategies included low-dose tamoxifen (30 mg orally per day), high-dose tamoxifen (90 mg orally per day), and a subsequent combination of goserelin acetate (3.6 mg subcutaneously once every four weeks) plus low-dose tamoxifen, medroxyprogesterone acetate (1000 mg orally per day) and interferon gamma (3 Mio IU subcutaneously 3 times a week). RESULTS: The combination of goserelin acetate and low-dose tamoxifen resulted in a decrease in tumour size and a complete relief of symptoms for 17 months. Thereafter the tumor progressed and again growth was stopped with interferon gamma therapy for another 6 months. All other treatment modalities had no effect. CONCLUSIONS: This study demonstrates long-term regression of a desmoid tumor with combined endocrine therapy using goserelin acetate plus tamoxifen. Tumor progression after 17 months was again stopped by a combination of interferon-gamma and goserelin acetate.