PubMed Health⌕ Search

Biomedical subjects

E Marton

Publications and source records attributed to E Marton.

At least 19 recordsLinked to original sources
PubMed2006

Atypical meningioma in Werner syndrome: a case report.

INTRODUCTION: Werner Syndrome, or adult progeria, is a rare autosomal recessive disorder caused by a mutation in the Werner Syndrome Gene belonging to the family of RecQ helicase. Malignant mesenchymal tumours and atherosclerosis are typical causes of death. Intracranial meningiomas are frequently described in these patients. CLINICAL PRESENTATION: We present the case of a 46-year-old man with Werner Syndrome and a convexity meningioma. The patient had a 2-year history of paresthesia and paresis in his right leg, which had worsened in recent months. He underwent surgery with Simpson grade II removal, with improvement of the slight paresis and no other neurological defects. The patient then underwent radiotherapy (60 Gy). Histological examination revealed an atypical meningioma. Cytogenetic analysis showed a hypodiploid clone with a complex karyotype characterized by monosomy 22 and deletion 1p. After 3 years' follow-up no relapses had occurred. CONCLUSION: 1p deletion correlates with meningioma progression and in this case correlates with histological examination. The chromosomal instability underlying Werner Syndrome could have fostered the complex karyotype.

Brain Neoplasms↗
PubMed2005

Transnasal endoscopic repair of cerebrospinal fluid fistulas and encephaloceles: surgical indications and complications.

INTRODUCTION: Transnasal endoscopic repair of cerebrospinal fluid (CSF) fistulas is recommended for patients with CSF leaks who do not respond to conservative treatment. It is a safer and more successful alternative to transcranial surgery. PATIENTS AND METHODS: We present our experience on using transnasal endoscopy for the repair of anterior skull base cerebrospinal fluid fistulas. Between 1999 and 2003 we observed 20 patients with CSF rhinorrhea. The etiology was heterogeneous: post-traumatic in 6 cases, iatrogenic in 6 cases (one interesting case of meningioma of the sphenoethmoid plate), dysembryogenetic - due to encephaloceles - in 4 patients (one with Cruzon syndrome and one with Down syndrome) and idiopathic in the other 4 patients. Use of a rigid transnasal endoscope allowed the localization and repair of all fistulas, with the use of fluorescein in 6 cases. Different grafts were used, in particular fat, bone or chondral septum with mucoperiosteum or perichondral mucosa. Generally the graft was inserted with the underlay or the sandwich technique. Lumbar drainage was used in the postoperative period only in 6 cases. No antibiotic prophylactic therapy was used. RESULTS: Endoscopy was successful in 90 % of patients at the first attempt, and in 95 % of patients at the second approach. We had two late complications such as infections. In one child with a post-traumatic fistula and shunt for hydrocephalus, we observed meningitis 2 years after the first endoscopic surgery and he underwent both transnasal endoscopic surgery and transcranial surgery. The second patient was a woman with a spontaneous fistula, who had rhinoliquorrhea three years after the first surgical treatment. During surgery a strange similar purulent material filling the submucous space of the ethmoid roof was found, suggestive for an intranasal abscess that was removed. We did not see any complications such as hematomas or seizures. The follow-up (range: 6 months to 3 years) made both with MRI and rhinoscopy has not shown any relapse until now in 19 of 20 patients treated only with endoscopy. CONCLUSIONS: The endoscopic approach is highly effective and safe in the treatment of CSF fistulas, with great visualization and minimal invasiveness, for which it is associated to a very low morbidity. The fluorescein technique is extremely helpful for the diagnosis and surgery of CSF leaks.

Adolescent↗
PubMed2003

Stem cell marker expression in human trisomy 21 amniotic fluid cells and trophoblasts.

Down Syndrome is the most frequent genetic cause of mental retardation. Deregulation of specific differentiation processes is a major cause for the neuropathological cell features typical for this syndrome. The molecular mechanisms leading to Down Syndrome are likely to be operative from the very earliest time of embryonic/fetal development. We therefore analysed human amniotic fluid cell samples and cytotrophoblastic cells from placental biopsies, both with normal karyotypes and with trisomy 21, for the mRNA expression of stem cell marker genes. Here we describe for the first time that these human primary cell sources contain cells that express telomerase reverse transcriptase, leukemia inhibitory factor receptor, and bone morphogenetic protein receptor II. A specific difference between aneuploid and normal cells could not be detected. These data provide evidence that human amniotic fluid and cytotrophoblastic cell cultures might provide a new source for research on primary cell systems expressing these stem cell markers. In addition, it is suggested that early deregulation of the expression of these genes in the here analysed cell sources does not contribute to the molecular development of Down Syndrome.

Amniotic Fluid↗
PubMed2003

Cell cycle and cell size regulation in Down syndrome cells.

Although the neuropathological features typical for Down Syndrome obviously result from deregulation of both, cell cycle control and differentiation processes, so far research focused on the latter. Considering the known similarities between the neuropathology of Down Syndrome and Alzheimer's disease and the knowledge, that in Alzheimer's disease neuronal degeneration is associated with the activation of mitogenic signals and cell cycle activation, it is tempting to investigate the consequences of an additional chromosome 21 on mammalian cell cycle regulation. We analysed the distribution of cells in different cell cycle phases on the flowcytometer and the cell size of human amniotic fluid cells with normal karyotypes and with trisomy 21. We could not detect any significant differences suggesting that the presence of an additional copy of the about 225 genes on human chromosome 21 does not trigger cell cycle effects in amniotic fluid cells. These data provide new insights into the cell biology of trisomy 21 cells.

Amniotic Fluid↗
PubMed2002

Interleukin-1 system and sex steroid receptor gene expression in human endometrial cancer.

OBJECTIVES: The interleukin-1 system is known to play a pivotal role in human physiology and reproduction. In the cycling endometrium, interleukin-1alpha activity is controlled by sex steroids and is confined to the perimenstrual phase, where it is involved in the events leading to tissue lysis and menstruation. Since local tissue degradation is also a feature of malignant tumors, our goal was to analyze the gene expression of interleukin-1alpha and other interleukin-1 family members and compare it with estrogen receptor alpha, estrogen receptor beta, and progesterone receptor mRNA expression in 27 endometrial carcinomas and 13 normal endometria. METHODS: Endometrial tumor tissues were obtained during hysterectomy for endometrial cancer, and normal endometrium was sampled in women undergoing surgical procedures for nonendometrial pathologies. Gene expression was analyzed by reverse transcription polymerase chain reaction. Protein expression was detected and localized by immunohistochemical staining. RESULTS: A strong gene expression of interleukin-1 type I receptor, estrogen recptor alpha, and progesterone receptor was detected in all tumor tissues and in the majority of benign endometrial tissues. However, in contrast to nonmalignant endometria, variable amounts of interleukin-1beta and interleukin-1 receptor antagonist mRNA were also detected in most of the tumor samples. Gene expression of interleukin-1alpha and estrogen receptor beta was considerably less frequent, with interleukin-1alpha being absent in all peri- and postmenopausal endometria and in all but one of the well-differentiated tumors. With decreasing differentiation interleukin-1alpha gene expression became more frequent. In these cases, interleukin-1alpha protein was detected predominantly in epithelial tumor cells of lower-grade tumors. CONCLUSION: We have demonstrated the presence of the interleukin-1 system in endometrial malignancies, and found a negative correlation between interleukin-1alpha and tumor differentiation. We hypothesize that the nonphysiological expression of interleukin-1alpha in less differentiated tumors might contribute to their invasiveness and malignant behavior.

Carcinoma, Endometrioid↗
PubMed2001

Pituitary adenomas in childhood and adolescence. Clinical analysis of 10 cases.

Pituitary adenomas in childhood and adolescence constitute 2-6% of all operated pituitary adenomas. We report the clinical features, treatment and follow-up of 10 pediatric patients affected by pituitary adenomas. All patients underwent clinical evaluation, endocrine tests, magnetic resonance imaging and visual field assessment. Follow-up ranged from 8 to 132 months (median 52.6). All patients were older than 10 years of age; 60% were males. In 50% the initial complaints were headache and/or visual impairment, all except one had clear evidence of endocrine dysfunction. Ninety percent were macroadenomas. According to hormone measurements and immunostaining 50% were prolactinomas, 20% were pure GH-secreting and 30% were non-functioning adenomas. Prolactinomas in two females were successfully treated with cabergoline. The other patients underwent surgery: three prolactinomas are still being treated with dopamine agonists and a GH-secreting adenoma is being treated with octreotide LAR and cabergoline. Two patients were also treated with conventional radiotherapy. Treatments were completely successful in 50% of patients: these have normal hormone secretion, full pubertal development, no significant tumor mass and normal visual field. Hypersecretion of prolactin persists in two cases; partial or complete hypopituitarism is present in four, relevant tumor remnant in another four and impairment of visual field is present in two cases. In conclusion, pediatric adenomas occur mostly in pubertal age, are prevalently macroadenomas and clinically functioning. Medical therapy should be preferred for secreting adenomas, but in some cases, notably prolactinomas in males, surgery and eventual radiotherapy may be needed.

Acromegaly↗
PubMed2000

[Molecular biology follow-up of interferon therapy in patients with chronic myeloid leukemia].

In a prospective survey clinical haematological and molecular biological data of 31 patients with chronic myelogenous leukaemia (chronic phase, CML) observed in their haematological outpatient department were analyzed. During 1996 and 1999 a regular follow-up of the Philadelphia chromosome level in treated patients was performed with molecular biological techniques, i.e. with reverse transcription polymerase chain reaction (RT-PCR) and with fluorescence in situ hybridization (FISH) methods. During the follow-up period of 33 months from the 31 patients with CML (16 males, 15 females) 25 ones were treated with human recombinant interferon-alpha (IFN), however, six others were getting only hydroxyurea (HU). During this period in three patients allogen bone marrow transplantation was performed and seven ones expired (six out of them of blastic crisis). The quality of therapeutic response at cytogenetical level was determined by decrease of the bcr-abl level due to the treatment (non-responders, major, minor and complete cytogenetic remission groups). In nine patients (five from the IFN-group, four from the HU-group) achieved no cytogenetic therapeutic response (non-responders, 29%). However, in 13 patients a minor (bcr-abl range of 60-30%), and in nine patients a maior/complete (bcr-abl of 30-10%) cytogenetic response (42% and 29%, respectively) were detected. Moreover, the quality of cytogenetic response correlated with the haematological remission. The maior/complete cytogenetic response was durable in eigth patients. The improvement of the overall survival of patients with CML, the postpone of the fatal accelerated-blastic phase could be expected only from the early introduced, in individually adjusted and given in maximally tolerated dosage of interferon (3-5 million UI/m2/day). The qualitative (RT-PCR) and quantitative (FISH) detections of the Philadelphia chromosome are reliably reproducible up-to-date molecular biological methods getting relevant results, which could be very helpful in the planning, monitoring, in setting of optimal dosage of the interferon therapy of patients with CML, in addition in the judgement of the effectiveness of the therapy, in the reduction of adverse effects, as well as in forecasting of the cytogenetic progression.

Antineoplastic Agents↗
PubMed2000

Therapeutic indications in upper cervical spine instability. Considerations on 58 cases.

BACKGROUND: The particular biomechanics of the upper cervical spine require, when trauma occurs, careful evaluation of the stability of the lesions, in order to guarantee the best possible therapeutic and prognostic approach. To date, there has been no uniformity of opinion in merit, especially with reference to treatment of odontoid fractures. It is necessary for this reason as much as for the opportune standardisation of the patients' classification parameters to establish what is meant by stability and which lesions are to be held as being unstable in the upper cervical spine. METHODS: All the cases of upper cervical spine instability treated in our Unit from '94 to date have been reviewed. Four fractures to the first cervical vertebra, 29 to the odontoid process, 9 isolated fractures in the C2 body, 12 hangman fractures, 7 fractures of the articular processes, 2 to the occipital condyles and 4 C1-C2 dislocations without fractures were localised. Using precise prognostic indexes as our classification criteria, 56 of the 58 patients observed were addressed towards either conservative treatment or directly towards surgical treatment. In particular, 29 patients were conservatively treated with a collar or Halo-Vest. Twenty-seven surgical operations were carried out: 14 screw fixations, 6 anterior fixations using plates and screws, 4 rear ones using metal wire or wire with bone graft, 3 odontectomy operations associated with posterior fixation. RESULTS: In the follow-up, using a range of between three months to six years, good fusion with spine stabilisation was achieved in all the patients treated. In particular, surgery was carried out as the first therapeutic indication in 25 cases, obtaining excellent results. Surgery was necessary in only 2 cases after the failure of external stabilisation. CONCLUSIONS: The judgement passed on instability in traumatic lesions in the upper cervical spine represents the decisive factor in the choice of the therapeutic option. Instead of always opting for conservative treatment, in the case of C1-C2 fractures-luxations, and going ahead with surgery only when there is instability or non-fusion of the segments resulting after successive monitoring, we believe that the definition and standardisation of the prognostic factors is opportune, in order to provide patients with a specific solution, in such a way as to reduce the failure percentage of the first treatment and optimise the healing time.

Adolescent↗
PubMed1998

Phenotypic and genotypic analyses of blastic cell population suggest that pure B-lymphoblastic leukemia may arise from myelodysplastic syndrome.

The case history of a 70-year-old man with myelodysplastic syndrome terminated into acute leukemia in 22 months is presented. The leukemic cells exhibited multifocal acid phosphatase positivity and expressed TdT, CD45, CD34 and HLA-DR but not myeloid, monocytic or megakaryocytic differentiation antigenes. The genotypic analysis revealed clonal immunoglobulin heavy chain gene rearrangement. These phenotypic and genotypic analyses of the blastic cell population suggest that myelodysplastic syndrome may transform to pure acute lymphoblastic leukemia of B-cell origin.

Acid Phosphatase↗
PubMed1997

[A case of myelodysplastic syndrome transforming into acute B-cell lymphoid leukemia].

Case history of a seventy year old man with myelodysplastic syndrome is presented. The disease terminated into acute leukaemia in 22 months. The pure, B lymphoid stem cell nature of the leukaemic cells has been proved, beside morphology and cytochemistry, by detailed flow cytometric phenotyping and PCR amplification as well as sequencing of the immunoglobulin heavy chain gene CDR3 region.

Aged↗
PubMed1997

[Anaplastic large cell lymphoma based on our clinicopathological cases].

CD30(Ki-1) positive anaplastic large cell lymphoma (ALCL) is a distinct entity, in which the monoclonal antibody-positivity against the CD30(Ki-1) antigen of tumour cells has a diagnostic value. The histological subtypes of ALCL show also certain clinical differences. Except for some pediatric cases and cutaneous forms clinical outcome is very unfavourable despite of the various treatment methods. In this prospective study (follow-up of 11-60, median 16 months) clinicopathological data and treatment results of fifteen adult patients with ALCL were analysed, Mean age was 46 (16-69) ys with a bimodal tendency and a distinct female: male ratio (3:2) was observed. Early clinical stages (I-II/A-B, eight patients) dominated, and two main groups could be distinguished histologically (Hodgkin-related, ALCL-HR and common type, -CT in eight and seven patients), respectively. In all histological specimens CD30 antigen expression was detected. Additional immunophenotyping was performed in five cases (two 0-variant, two of B-cell and one of T-cell origin), respectively. A bulky disease, mainly in the mediastinum was observed in six cases, and a primary gastrointestinal localization in two other patients. In the treatment of these high grade malignant lymphomas a combination of cobalt irradiation and aggressive chemotherapy was applied (in elder the CHOP-regimen, in younger patients mainly the Pro-MACE-Cyta-BOM-protocol). In one relapsed younger patient autologous bone marrow transplantation was also performed. A complete or partial remission was achieved in thirteen patients (86.6%) but six patients expired after only a short response period to therapy. Overall survival was 19, whilst disease-free survival revealed to be 15 months. Eight of their living nine patients have a durable complete remission. Due to residual mediastinal mass after radiotherapy in three cases a permanent radiological follow-up is needed. Advanced age and clinical stages are considered to be unfavourable, whilst histological subtypes were indifferent prognostic factors, as well. Favourable results in therapy and durable complete remission in younger patients are probably caused by the their better tolerance of third-line aggressive chemotherapy.

Adult↗
PubMed1993

["Busulfan lung" simulating tumor].

The authors present a case in which a patient, treated with Myleran for chronic myeloid leukaemia showed tumour like changes in the lung. They stress the differential diagnostic difficulties and the importance of histological diagnosis. This case proves that with discontinuation of the therapy the lung change may be reversible.

Biopsy↗
PubMed1992

Pneumococcal meningitis in the elderly.

The authors reviewed 70 cases of Streptococcus pneumoniae meningitis occurring over a 5-years period (1985-1989). Clinical features, outcome and laboratory findings in elderly patients (> 60 years of age, 21 patients) were compared with those in younger patients (< 59 years of age, 49 patients). Mortality rate was 57% in elderly group vs. 20% in younger. Admission to the hospital was delayed in the elderly. Only 67.6% of them were admitted on the first two days of the illness vs. 81.6% of younger patients. Nearly 62% of them were deeply soporous or comatose on admission (Mathew-Lawson grade 3 and 4), while in the control group only 31% of patients had such severely altered mental status. Although glucose cerebrospinal fluid (CSF)/blood ratio tended to be lower in the elderly (0.09 vs 0.17) the difference did not reach statistical significance. Thrombocytes in the peripheral blood were lower in the elderly (113 x 10(9)/L vs. 148 x 10(9)/L, p < 0.05). When we compared laboratory findings in survivors and nonsurvivors from both groups, nonsurvivors had significantly lower glucose CSF/blood ratio (0.054 vs. 0.174, p = 0.008), and higher bilirubin levels in serum (27.9 vs 14.7, p = 0.003), but differences were more obvious in younger group of patients. Our results suggest that there is increased risk of death among elderly patients. It can be at least partially attributed to their later admittance to the hospital and because of that delayed start of the appropriate therapy and more severe conscious disturbances. All these factors contribute to the greater case-fatality ratio observed in elderly patients with pneumococcal meningitis.

Age Factors↗
PubMed1991

The clinical picture of rabies in a child.

An eight-year-old boy developed rabies 31 days after having been scratched by a dog and died 9 day later. Intensive supportive medical treatment was complicated by apnea, cardiac arrest, hypotension, increased secretion of antidiuretic hormone and severe hypoproteinemia. The treatment with intramuscular human antirabies immunoglobulin (HRIG) 2400 I.U. and intrathecal 1200 I.U. in combination with intramuscular interferon alpha 4 million I.U. was given every second day. The diagnosis of rabies was confirmed before death, on the third day of the disease, by direct fluorescent antibody staining of the saliva and cerebrospinal fluid for viral antigen. At the autopsy, the brain tissue specimens were tested for the presence of the virus by inoculation into the suckling mice brain and for the viral antigen by direct fluorescent antibody method. The brain tissue specimens collected at autopsy were also tested for virus by direct fluorescent antibody method.

Child↗
PubMed1991

Entry of ciprofloxacin into cerebrospinal fluid during bacterial, viral and tuberculous meningitis.

We studied the entry of ciprofloxacin into the cerebrospinal fluid (CSF) in 37 patients with various types of meningitis (bacterial meningitis 10 patients, viral 12 patients, tuberculous 7 patients). Eight patients were in the control group with normal CSF finding. Mean ciprofloxacin concentrations in the CSF 50-60 minutes after 200 mg of ciprofloxacin was given in infusion were 0.20 +/- 0.12 mg/L in patients with bacterial meningitis, which was significantly higher than in other tested groups (p = 0.0325). Ciprofloxacin achieved concentrations in the CSF 6.5-39% of serum (mean value 15% +/- 9%) in the bacterial meningitis group, while in the groups with viral and tuberculous meningitis the levels were significantly lower (approximately 9% of serum) but still higher than in the control group (approximately 5% of serum). Our data suggest that ciprofloxacin should be very cautiously used in selected patients with bacterial meningitis caused by multiple resistant strains of gram negative bacteria.

Adult↗
PubMed1990

[Experiences with a new second-line protocol in the treatment of pretreated and advanced Hodgkin disease].

Between 1983 and 1987, we treated 16 patients with Hodgkin's disease, according to a post-COPP and a post-ABVD protocol, respectively. All patients had received previous treatment, including megavoltage cobalt radiotherapy, and were in advanced stages of disease, mostly with immunosuppression/immune deficiency. The protocol of lomustine, etoposide, adriamycin, methotrexate and prednisolone was commenced after the above therapy had failed or was not tolerated. Compared to the previously used chemotherapy, the 3 new cytotoxic agents were well tolerated. A complete remission was obtained in 4 patients and a partial remission in 9. In 2 patients, there was a temporary partial remission only. In more than half the patients, a positive effect on the clinical course was recorded. Viewed as a whole, a favourable objective and subjective result ensued. This LEAMP second-line protocol was found to be effective and well tolerated.

Adolescent↗