László Kaizer

Proteomic Analysis of Cerebrospinal Fluid in a Fulminant Case of Multiple Sclerosis

Multiple Sclerosis (MS) is a chronic disease, but in rare fulminant cases rapid progression may lead to death shortly after diagnosis. Currently there is no diagnostic test to predict disease course. The aim of this study was to identify potential biomarkers/proteins related to rapid progression. We present the case history of a 15-year-old male MS patient. Cerebrospinal fluid (CSF) was taken at diagnosis and at the time of rapid progression leading to the patient’s death. Using isobaric tag labeling and nanoflow liquid chromatography in conjunction with matrix assisted laser desorption/ionization time of flight tandem mass spectrometry we quantitatively analyzed the protein content of two CSF samples from the patient with fulminant MS as well as one relapsing-remitting (RR) MS patient and one control headache patient, whose CSF analysis was normal. Seventy-eight proteins were identified and seven proteins were found to be more abundant in both fulminant MS samples but not in the RR MS sample compared to the control. These proteins are involved in the immune response, blood coagulation, cell proliferation and cell adhesion. In conclusion, in this pilot study we were able to show differences in the CSF proteome of a rapidly progressing MS patient compared to a more typical clinical form of MS and a control subject.

Birth prevalence of neural tube defects: A population-based study in South-Eastern Hungary

PurposePrimary prevention by periconceptional folic acid supplementation can significantly reduce the risk of neural tube defects. EUROCAT, the European network of population-based registries for the epidemiologic surveillance of congenital anomalies, lacks sufficient data on the birth prevalence of neural tube defects in Hungary before and after the promotion of primary prevention by folic acid. Our aims were to compare the birth prevalence of neural tube defects (myelomeningocele, anencephaly and encephalocele) over two 12-year periods in South-Eastern Hungary. Further aims were to compare our data to those ones in other areas in Europe.MethodsData were collected from the databases of the Department of Hungarian Congenital Abnormality Registry. The total and live birth prevalence rate of neural tube defects were calculated and compared over 1980–1991 and 1994–2005. In addition, the trends in the total birth prevalence, the number of live births and terminations for and stillbirths with neural tube defects were analysed throughout the period of 1994–2005.ResultsA significant decline was found in the total and live birth prevalence of myelomeningocele, anencephaly and encephalocele over 1994–2005 compared to the period of 1980–1991. The total birth prevalence of neural tube defects, however, showed a trend of increase after 1994, with declining number of live births and increasing number of terminations for neural tube defects.ConclusionPublic health measures are warranted in order to replace termination of pregnancy with primary prevention in South-Eastern Hungary.

Postnatal outcome and placental blood flow after plasmapheresis during pregnancy

Abstract Purpose: Plasmapheresis in pregnancy adversely affects maternal hemodynamics, however there are studies suggesting it to reduce pregnancy loss in immunological diseases when medication is more harmful to the fetus. The overall optimal plasmapheresis treatment protocol remains unknown. Materials and methods: A pregnant with neuromyelitis optica was followed up after receiving six volumes of fresh frozen plasma via plasmapheresis. Results: The placenta compensated the hemodynamic change until the 33rd week of gestation, resulting a small for gestational age, otherwise healthy girl. Conclusions: More research is needed on plasma exchange during pregnancy because in our observation placental circulation can adapt to the change in blood pressure.

The relationship of multifocality and tumor burden with various tumor characteristics and survival in early breast cancer

The presence of multifocality and the aggregate tumor size were retrospectively analysed in a database of 1071 operated breast cancers. Around a quarter of all these cancers involved multiple foci, while a tenth of the total demonstrated more than one invasive focus. Although the multifocal cancers were smaller and more often screen-detected than the unifocal cancers, their aggregate tumor size was larger, and they more frequently displayed casting-type calcifications in the mammogram and HER2 positivity. Lobular histology favoured larger tumor burden. The invasive multifocal cancers were more commonly lymph node-positive than the other tumors. In a subgroup of 584 patients with a median follow-up time of 5 years, the larger size of the invasive tumor, the presence of LVI or lymph node involvement, HER2 positivity and triple negativity were associated with a poorer RFS and OS, while the outcome of screen-detected tumors was superior to that of non-screen-detected or interval cancers. A large tumor size, lymph node positivity and HER2 positive or triple negative phenotypes were independent determinants of a poorer survival rate.

P05.03: Correlation between placental vascularisation indices and histological findings of placentas in pregnancy hypertension

males. (Mean fetal weight: 0,65g vs 0,84g, p<.001 at ED17,5 and 1,01g vs 1,14g, p=.02 at ED18,5). Measured by ultrasounds, uterine artery resistance index (RI) was higher in late gestation in transgenic group. (mean RI: 0,63 vs 0,58, p= .029). In 29 mice studied by BOLD MRI, change in T2* differed significantly between STOX 1 and wild type in placental inner layer (8.2 msec vs 5.8 msec; p < .025), placental outer layer (6.1 msec vs 3.07msec; p < .005), and fetal brain (5.29 msec vs 9.09 msec; P = .004). There was no significant difference in the fetal liver (2.42 msec vs 2.5 msec; P = .25). Conclusions: STOX1-overexpressing mice constitute a reliable model of PE. BOLD MRI has the potential to pick up placental changes in such mice pre-eclamptic pregnancies as compared to normal ones.

EP14.25: Placental weight and volume related to birthweight and third trimester maternal blood sample in normal and IUGR pregnancies

Objectives: To investigate human long bone development in fetuses with intrauterine growth restriction (IUGR) by analysing distal femoral epimetaphyseal structures and bone morphometrics on prenatal MR imaging. Methods: This retrospective study included 14 fetuses (mean gestational age, 26 weeks 2 days; range, 21 weeks 3 days to 33 weeks) with IUGR caused by placental insufficiency, without other brain or body abnormalities, as well as a total of 192 age-matched normal fetuses. On 1.5-T echo-planar MR images, diaphyseal and epiphyseal morphometric measurements were assessed, and, using a grading system, the cartilaginous epiphyseal and metaphyseal shape, secondary ossification, and the perichondrium were qualitatively analysed. Student’s t-testing was used to compare the morphometric measurements of IUGR fetuses with normal fetuses, and descriptive statistics were used to compare the qualitative bone characteristics. Results: The morphometric measurements of the IUGR fetuses did not exceed the minimum normative measurements at any gestational age (diaphyseal length: p <0.0001 0.0053; epiphyseal length: p <0.0001 0.0022; epiphyseal width: p <0.0001 0.0032). Overall, the same grading for cartilaginous epiphyseal shape as observed in IUGR fetuses was found in 28.6% 100% of normal fetuses, for the metaphyseal shape in 7.1% 94.4%, for secondary ossification in 16.7% 100%, and for the perichondrium in 12.5%91.7%. Conclusions: On prenatal MR imaging, fetuses with placental-based IUGR exhibit long bone shortening, whereas their qualitative bone characteristics appear within normal limits. Consequently, the presence of qualitative bone abnormalities should include the differential diagnosis of various fetal skeletal disorders.

EP23.01: Postive postnatal outcome in pregnancy with neuromyelitis optica.

24 gestational weeks) and bilateral cleft lip (fetus with 27 gestational weeks). Both fetus ware listed on the figure below. An ultrasound machine GE/Voluson E6 was used in the exam and images were processed by 4D View software. The images were rebuilding with three renderisation methods: Surface, Surface 1 and HDLive Smooth. Accordingly to the fetal pathology, the specific RM improves the quality of images, diagnosis and severity case comprehension not only to the health team but also to the pregnant. The team, guided by the full understanding of the malformation severity images, can offer a human attendance to the pregnant. It promotes family’s acceptance and active participation in the therapeutic plan. In anencephalic fetus, for religious reasons, she opted to prolong pregnancy. In cleft lip case, the accurate diagnosis of fetal deformity drove family’s understanding of newborn surgical repair needed. As to rendering methods, there is not a mode more appropriate to presents the 4D picture, we must decide the frame in each case.

Melanoma-Predisposing CDKN2A Mutations in Association with Breast Cancer: A Case-Study and Review of the Literature

The authors present the case of a 33-year-old female patient who developed melanoma, ductal adenocarcinoma of the breast and primary pancreas adenocarcinoma nearly simultaneously, but independently of each other. Past medical history of the patient was unremarkable, however, in her family history gastric, laryngeal and breast cancer was noted on the paternal side. The occurrence of multiple primary tumours in a relatively young individual, together with the family history of different malignancies, suggested that there might be genetic predisposition to the development of multiple tumours. In this chapter we present the case of the young female patient suffering from three independent primary tumours and review current data on the germ-line mutations detected to date in the CDKN2A gene, in view of the association not only with melanoma, but also with additional malignant diseases, such as pancreas carcinoma and breast cancer.