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Clinical Neuroscience

JULY 30, 2020

Extraskeletal, intradural, non-metastatic Ewing’s sarcoma. Case report

OTTÓFFY Gábor, KOMÁROMY Hedvig

Intracranial localization of Ewing’s sarcoma is considerably very rare. Herein, we present clinical and neuroimaging findings regarding a 4-year-old boy with intracranial Ewing’s sarcoma. He was born prematurely, suffered intraventricular haemorrhage, posthaemorrhagic hydrocephalus developed, and a ventriculoperitoneal shunt was inserted in the newborn period. The patient endured re­gular follow ups, no signs of shunt malfunction nor increased intracranial pressure were observed. The last neuroima­ging examination was performed at 8 months of age. Upon reaching the age of 4 years, repeated vomiting and focal seizures began, and symptoms of increased intracranial pressure were detected. A brain MRI depicted a left frontoparietal space-occupying lesion infiltrating the superior sagittal sinus. The patient underwent a craniotomy resulting in the total excision of the tumour. The histological examination of the tissue revealed a small round blue cell tumour. The diagnosis was confirmed by the detection of EWSR1 gene translocation with FISH (fluorescent in situ hybridization). No additional metastases were detected during the staging examinations. The patient was treated in accordance to the EuroEwing 99 protocol. Today, ten years onward, the patient is tumour and seizure free and has a reasonably high quality of life.

Clinical Neuroscience

MARCH 30, 2013

[Inclusion body myositis - a rarely recognized disorder]

DÉZSI Lívia, DANIELSSON Olof, GÁTI István, VARGA Edina, VÉCSEI László

[Inclusion body myositis is the most common disabling inflammatory myopathy in the elderly. It is more frequent in men and after the age of 50 years. Inflammatory and degenerative features coexist. There is a T-cell mediated autoimmunity driven by in situ clonally expanded cytotoxic CD8-positive T-cells invading non-necrotic muscle fibres expressing MHC-I antigen. The hallmarks of degeneration are the deposition of protein aggregates and the formation of vesicles. The course of the disease is slow and the diagnosis is usually set after several years. The muscle weakness and wasting is assymetric, affecting predominantly distal muscles of the upper extremity and proximal muscles of the legs. The signs and clinical course can be characteristic, but the diagnosis is established by muscle biopsy. There is currently no evidence based effective treatment for sIBM. Prednisone, azathioprine, methotrexate, cyclosporine and IFN-β failed. Oxandrolon did not improve symptoms. Treatment with intravenous immunglobuline (IVIG) induced in some patients a transient improvement of swallowing and of muscle strenght, but the overall study results were negative. A T-cell depleting monoclonal antibody (alemtuzumab), in a small uncontrolled study slowed down disease progression for a six-month period. Repeated muscle biopsies showed the reduction of T-cells in the muscle and the suppression of some degeneration associated molecules. An effective therapeutic mean should act on both aspects of the pathomechanism, on the inflammatory and the degenerative processes as well.]

Hungarian Radiology

DECEMBER 27, 2010

[Lesions resembling radial scar of the breast - Is preoperative biopsy of the radial scar needed?]

SEBŐ Éva, SARKADI László, KOVÁCS Ilona, TÓTH Dezső, BÁGYI Péter

[INTRODUCTION - The radial sclerosing lesion is one of the most common benign breast lesions. It can mimic malignant tumours on mammogram in many cases. In one third of the cases invasive tumour or in situ carcinoma occur in radial sclerosing lesion, therefore surgical excision is mandatory. The aim of our work is to diagnose the malignant cases with preoperative biopsy (FNAB, core biopsy) when radial scar morphology lesion is detected in order to avoid two-step surgical procedure. PATIENTS AND METHODS - Forty-five patients were examined with the same method. In all cases of radial sclerosing morphology lesions a mammography, complementary radiograms, ultrasonography (US) and synchronous US guided FNAB and core biopsy were performed. Postoperative pathological findings were compared to the results of preoperative biopsies. RESULTS - In 6 of 45 cases (13%) malignant tumours mimicked radial scar in morphology. All of them were diagnosed preoperatively with core biopsy (B5). The FNAB was nondiagnostic (C1) in 2 patients, suspicious for malignancy (C4) in 2 patients and was positive in 2 cases (C5). Radial scars or complex sclerosing lesions were diagnosed in 39 patients preoperatively. In 28 cases (72%), malignancy was not detected with postoperative pathological examination. In 8 cases (20%) DCIS and, in 3 cases (8%), malignant tumours were found associated to radial scar. Neither FNAB nor core biopsy gave false positive results in the non-malignant group. In the patients with DCIS associated to radial scar, core biopsy proved malignancy in 5 cases and FNAB in only 1 case. In 3 cases of invasive malignant tumour associated with radial scar core biopsy was positive in 1 patient, while FNAB was negative or non-diagnostic in all of them. CONCLUSION - According to the latest publications vacuum- assisted large-core needle biopsy (VLNB) performed with 11G needle (12) is the safest procedure to justify or exclude malignancy in the radial scar. Observation would be enough in the non-malignant cases and this procedure has therapeutic potential as well. In case where these methods are not available, as in Hungary, all radial scar cases require surgical excision. Therefore, preoperative core biopsy is recommended in order to avoid a two-step surgical procedure.]

Clinical Neuroscience

MARCH 20, 2007

[GLUTAMATERGIC PHENOTYPE OF HYPOTHALAMIC NEUROSECRETORY SYSTEMS: A NOVEL ASPECT OF CENTRAL NEUROENDOCRINE REGULATION]

HRABOVSZKY Erik, LIPOSITS Zsolt

[While three decades ago, the co-existence of classical neurotransmitters and peptide neuromodulators in a single neuronal cell was considered to be rather exceptional, the phenomenon that neurons have a complex transmitter phenotype now appears to be the general rule. Parvicellular and magnocellular neurosecretory systems consist of neuronal cells which are specialized in secreting peptide neurohormones into the blood-stream to regulate hypophyseal functions. This mini-review, dedicated to the memory of Mariann Fodor, summarizes the current knowledge about the classical neurotransmitter content of different hypothalamic neurosecretory systems, with a special focus on the occurrence and putative functions of glutamate in parvicellular and magnocellular neurosecretory cells.]

Lege Artis Medicinae

FEBRUARY 20, 2005

[THE IMMUNPATHOGENESIS OF VASCULITIDES]

ZEHER Margit

[The vasculitides are clinicopathologic entities characterized by the inflammation and damage to blood vessels. Most vasculitic syndromes are mediated by immunopathogenic mechanisms. Most immune vasculitides are idiopathic (“primary vasculitis”) and systemic. The “immune vasculitides” are classified according to their hypersensitivity reaction types: allergic angiitis, antineutrophil cytoplasmic antibody (ANCA) -associated vasculitis, immunecomplex vasculitis, and vasculitis associated with T cell-mediated hypersensitivity. Immunological features: eosinophilia plus elevated IgE are characteristic of allergic angiitis and granulomatosis (Churg-Strauss syndrome). No immune deposits can be found in situ in ANCA associated vasculitis (“pauci-immune vasculitis”). Immune complex deposits, by contrast, are the hallmark of immune-complex vasculitis, which is frequently associated with low complement levels. Inflammatory infiltration induced by Th1 cells distinguishes vasculitis associated with T cell-mediated hypersensitivity (granulomatous arteritis). This article is dealing with the immunological mechanisms which may play a central role in the development of vasculitides.]

Clinical Neuroscience

JANUARY 20, 2005

[EXPERIMENTAL DEMYELINATION CAUSED BY PRIMARY OLIGODENDROCYTE DYSTROPHY Regional distribution of the lesions in the nervous system of mice brain]

KOMOLY Sámuel

[Background and purpose - Heterogeneity of multiple sclerosis lesions has been recently indicated: In addition to T-cell-mediated or T-cell plus antibody-mediated autoimmune mechanisms (patterns I-II) two other patterns (III-IV) were described. Patterns III-IV are characterized by primary oligodendrocyte dystrophy, reminiscent of virus- or toxin-induced demyelination rather than autoimmunity. It was described more than 30 years ago that dietary application of a copper-chelating agent called cuprizone results in primary oligodendrocyte degeneration which is followed by demyelination. The aim of the present study was to examine the regional distribution of cuprizone induced oligodendrocyte dystrophy and demyelination in the nervous system of mice. Material a methods - Demyelination was induced in male weanling Swis-Webster mice by feeding them on a diet containing 0.6% (W/W) cuprizone bis(cyclohexanone)-oxalyldihydrazone (G. F. Smith Chemical, Columbus OH) for 8 weeks. Animals were sacrificed after 3, 7, 14, 27, 35, 56 days of cuprizone administration. Samples were taken from corpus callosum, anterior commissure, optic nerve, cervical spinal cord and sciatic nerve. Samples were examined by immunohistochemistry, in situ hybridization for myelin proteins and myelin protein mRNA-s, respectively. Conventional neuropathological stainings and electron microscopy was also performed. Results - Oligodendrocyte degeneration and demyelination followed a particular standard pattern in the central nervous system. Profound myelin loss developed in the superior cerebellar peduncle, anterior comissure and corpus callosum, whereas the optic nerves, velum medullare anterior and spinal cord showed little or no demyelination. Sciatic nerves were unaffected. No infiltration by lymphocytes or blood-brain barrier damage was observed during cuprizone treatment. Conclusion - Cuprizone induced oligodendrocyte damage and demyelination follows a particular standard pattern in the central nervous system of mice. Cuprizone induced demyelination might be considered as a model for human demyelinating disorders with primary oligodendrocyte dystrophy and apoptosis.]

Lege Artis Medicinae

MAY 20, 2004

[IDENTIFYING HELICOBACTER PYLORI WITH DNA-BASED ASSAYS]

RUZSOVICS Ágnes, MOLNÁR Béla, TULASSAY Zsolt

[The DNA-based assays have the potential to be a powerful diagnostic tool given its ability to specifically identify H. pylori DNA. Markers used include general H. pylori structures and pathogenetic factors like ureaseA, cagA, vacA, iceA. DNA or bacterial RNA for polymerase chain reaction (PCR) assays can be collected from gastric biopsy, gastric juice, stool, buccal specimens. PCR can yield quantitative and genotyping results with sensitivity and specificity that approaches 100%. A clear trend in the direction of the determination of quantitative H. pylori infection by real-time PCR can be observed. Fluorescent in situ hybridisation (FISH) and restriction fragment length polymorphism (RFLP) are suggested for routine antibiotic resistance determination. To identify the DNA structure of organism and its virulence factors may be feasible by using oligonucleotide microarray specifically recognising and discriminating bacterial DNA and various virulence factors. DNA based H. pylori diagnosis yields higher sensitivity, however, specificity requires sophisticated labour environment and associated with higher costs.]

Lege Artis Medicinae

FEBRUARY 20, 2001

[The clinical importance of HER2 expression in breast cancer]

KAHÁN Zsuzsanna

[HER2 (neu/c-erbB-2) is a member of the EGF receptor family. It is activated without binding a specific ligand that leads to malignant transformation and tumor progression. Overexpression of HER2 is detected in approximately one quarter of human breast cancers. Immunohistochemistry and in situ hybridization (FISH) are the most widely used techniques in studying HER2 expression. HER2 positivity indicates worse outcome in node positive breast cancer and increasing number of studies show unfavourable prognosis in node negative cases as well. Recent data indicate that the knowledge of HER2 status may promote therapeutic decision. The generally applied cyclophosphamide- methotrexate-5-fluorouracil (CMF) polychemotherapy seems to provide no benefit in HER2 positive cases in contrast with HER2 negative breast cancer patients. Interestingly, doseintensive doxorubicin based chemotherapy gives better results in HER2 positive than in HER2 negative tumors. Determination of HER2 expression has great importance before therapeutic application of the humanized antibody trastuzumab (Herceptin). HER2 overexpression usually correlates well with estrogen and progesterone receptor negativity and hormone-resistance, therefore hormonal therapy is not justified for these patients. Some experimental and clinical data indicate that in case of simultaneous HER2 and ER positivity tamoxifen worsens treatment results which may be prevented by the coadministration of tamoxifen and trastuzumab. Emerging experimental and clinical data about HER2 has led to a new stage of individual treatment of breast cancer patients. The knowledge of HER2 status promotes antitumor intervention based on molecular characteristics of breast cancers. Therefore, reliable HER2 tests are needed in the everyday practice.]

Lege Artis Medicinae

JANUARY 22, 2008

[TISSUE HORMONAL SHOCK: INTRACRINOLOGY - THE IMPORTANCE OF LOCALLY PRODUCED HORMONES IN THE PATHOGENESIS OF VARIOUS DISEASES]

SPEER Gábor, LAKATOS Péter

[This review describes the function and tissuespecific expression of the 11- and 17-beta-hydroxysteroid- dehydrogenase enzyme families as well as the aromatase and 1-alpha-hydroxylase enzymes. Recently, in situ formation of active steroids by these enzymes at the sites of their actions from biologically inactive precursors in the circulation have been demonstrated to play an important role in sex steroid-dependent neoplasms (such as breast and prostate cancer), and in some metabolic diseases (such as obesity, osteoporosis and insulin resistance). Tissuespecific Cushing syndrome (local hypercortisolism) may contribute to the pathogenesis of the latter group of diseases, suggesting that obesity may be considered the Cushing-syndrome of the omentum and that osteoporosis is the obesity of bone. Intracrinology is the science of alterations in tissue hormone synthesis catalysed by enzymes such as those mentioned above, which cannot be detected by measuring circulating hormone levels. The effects of local hormone production differ from those of the well-described autocrine, paracrine and endocrine actions. Based on the hormonal changes within various tissues, the pathogenesis of a number of diseases may be interpreted in a novel way.]

Lege Artis Medicinae

MAY 20, 2001

[Molecular morphological methods in laboratory medicine]

BALÁZS Margit, ÁDÁNY Róza

[Today, the increasing technical arsenal of molecular morphology has not only methodological importance, but also a revolutionary role in diagnostic laboratory medicine. Techniques previously used only in basic research have become widespread in routine diagnostics by now. The development of methodology for detection of genetic alterations has enabled laboratory tests not only to define disease associated pathobiochemical alterations, but also to identify the genetic background of diseases as well. Evolution of these methods caused qualitative changes not only in detection of disease specific alterations, but also in revealing increased individual susceptibility (sometimes at population level) indicating genetic predisposition to the disease. Recently, the classical methodology based on genetic microscopic morphology has been gradually supplemented or even replaced by different in situ hybridization techniques in many laboratories. Using these techniques chromosomal alterations in cells and tissues (including tumor cells) can be detected within one day (or maximum 1-2 days) without in vitro manipulation of cells. These improved techniques allow us to monitor chromosomal changes after the treatment of genetic diseases or define these alterations induced by environmental exposures.]