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Marina Matzourani

1st Department of Internal Medicine 
University of Athens
17 Agiou Thoma, Goudi
Athens 11527, GREECE
mmatzourn@med.uoa .gr
EDUCATION
1970-1976 Undergraduate education, Lyceum, 2nd Gymnasium Piraeus, Piraeus, Greece
1977-1984 Medical School, University of Athens, Greece

LICENSURE AND CERTIFICATIONS

1984 Medical Licence, Hellenic Medical Association, Mytilene, Lesvos, Greece
1991 Board examination in Internal Medicine (Licence 19/1/1992)

SCHOLARSHIP
1993-1995 University of Athens, with subject: “Molecular Biology in Medicine,
focus in chronic Myelogenous Leukemia


POSTDOCTORAL TRAINING
1984-1986 General Practice in Papados village, Gera Lesvos
1986-1991 Specialty in Internal Medicine, 1st Department of Internal Medicine University of Athens, Laikon Hospital, Athens Greece
January 1992 Board examination for Internal Medicine
1993-1995 Scholarship from University of Athens with subject: “Molecular Biology in Medicine with focus in chronic Myelogenous Leukemia”
1996 Medical Doctor Thesis, Medical School, University of Athens
1996-2001 Doctor in University of Piraeus
2001-2003 Consultant in Department of Oncology, EVAGELISMOS Hospital, Athens Greece
2003-2009 Instructor in Internal Medicine, 1st Department of Medicine, Medical School, University of Athens
July 2009- Assistant Professor in Internal Medicine, 1st Department of Internal Medicine,
Medical School, University of Athens

MAJOR RESEARCH INTERESTS
Molecular Biology/ Hematology
Oncology

MEMBER IN PROFESSIONAL SOCIETIES
1. Hellenic Medical Society
2. Hellenic Society for infection diseases


• 33 Presentations (Abstracts) in National Congresses
• 25 Presentations (Abstracts) in International Congresses
• 1 Publications in National Journals
• 19 Publications in International Journals
• 12 Lectures in National Congresses or Postgraduate Courses
• 130 Citations

1st author : 3
2nd author: 1
Senior author: 1
Other position in paper: 14

Impact Factor
Total: 45,883
Median: 2,415


Journal articles

2010
John Meletis, Aikaterini Katsandris, Sophia D Raptis, Marina Mantzourani (2010)  Successful treatment of immune thrombocytopenic purpura (ITP) with the thrombopoietin-mimetic Romiplostim.   Med Sci Monit 16: 8. CS100-CS102 Aug  
Abstract: BACKGROUND: Romiplostim is a second-generation thrombopoietic receptor agonist that exerts its therapeutic effect by stimulating megakaryopoiesis. CASE REPORT: We report a patient with immune thrombocytopenic purpura refractory to other therapies including splenectomy, which was successfully managed with romiplostim. More specifically, the patient's platelet count showed a 3-fold increase within 7 days following the first dose of romiplostim (from 33 x 10(9)/l to 96 x 10(9)/l). CONCLUSIONS: Romiplostin is a new trombopoietin peptide mimetic drug, which seems to be very effective for the management of refractory chronic ITP in adults.
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Julia Downes, Maria Mantzourani, David Beighton, Samuel Hooper, Melanie J Wilson, Ainsley Nicholson, William G Wade (2010)  Scardovia wiggsiae sp. nov., isolated from the human oral cavity and clinical material.   Int J Syst Evol Microbiol Feb  
Abstract: Six strains of anaerobic, pleomorphic Gram-positive bacilli isolated from the human oral cavity and an infected arm wound were subjected to a comprehensive range of phenotypic and genotypic tests and were found to comprise a homogeneous group. 16S rRNA gene sequence analysis revealed the strains to constitute a novel group within the genus Scardovia, most closely related to Scardovia inopinata, the type species of the genus. A new species, Scardovia wiggsiae sp. nov. is proposed to accommodate these strains. Scardovia wiggsiae is saccharolytic and produces acetic and lactic acids as end products of fermentation. The principal cellular long chain fatty acids are C16:0 and C18:1omega9c. Polar lipid analysis revealed a variety of glycolipids detected together with diphosphatidylglycerol, an unidentified phospholipid and an unidentified phosphoglycolipid. No respiratory quinones were detected. The peptidoglycan is of the type A4alpha L-Lys-Thr-Glu, with L-Lys partially replaced by L-Orn. The G + C content of the DNA of the type strain of Scardovia wiggsiae is 55 mol %. The type strain of Scardovia wiggsiae is C1A_55T (DSM 22547T =CCUG 58090T).
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D Beighton, M Al-Haboubi, M Mantzourani, S C Gilbert, D Clark, L Zoitopoulos, J E Gallagher (2010)  Oral Bifidobacteria: caries-associated bacteria in older adults.   J Dent Res 89: 9. 970-974 Sep  
Abstract: Bifidobacteria are aciduric bacteria that might play a role in the caries process. To test the hypothesis that Bifidobacteria behave as caries-associated organisms, as predicted by the ecological plaque hypothesis, we determined salivary levels of Bifidobacteria and caries-associated organisms for 156 older adults. Salivary levels of Bifidobacteria, mutans streptococci, lactobacilli, and yeasts were correlated with each other (p < 0.001), negatively correlated with salivary flow rate (p < 0.001), and positively correlated with plaque index (p < 0.05). Salivary Bifidobacteria levels were positively associated with the number of filled (p < 0.001) and decayed (p = 0.036) tooth surfaces and negatively associated with number of teeth (p < 0.001) and salivary flow rate (p = 0.049). In regression analyses, caries experience was significantly associated with only salivary Bifidobacteria (p < 0.001) and yeast (p < 0.001) levels and the individual's age (p = 0.021). Bifidobacteria should be regarded as caries-associated organisms whose role in the caries process and as markers of caries risk requires further investigation.
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M Mantzourani, S C Gilbert, M Fenlon, D Beighton (2010)  Non-oral bifidobacteria and the aciduric microbiota of the denture plaque biofilm.   Mol Oral Microbiol 25: 3. 190-199 Jun  
Abstract: The microbiota of the denture plaque biofilm colonizing the fitting surface of dentures in edentulous subjects with healthy palates (n = 20) and in edentulous subjects with denture stomatitis (n = 20) was studied. The numbers of bacteria colonizing the dentures of healthy subjects was significantly less than the numbers colonizing the dentures of stomatitis subjects. The proportions and frequency of isolation of mutans streptococci, lactobacilli, bifidobacteria and yeasts were significantly (P < 0.05) greater in the subjects with denture stomatitis. The proportions of these organisms in the denture plaque biofilm of the subjects with denture stomatitis were similar to those found in carious lesions, indicating that the site is a low pH environment. The predominant bifidobacterial species in the mouths of dentate subjects is Bifidobacterium dentium but in the edentulous subjects wearing dentures B. dentium was isolated from only one of the 20 subjects with denture stomatitis and from none of the 20 subjects with healthy palates. Instead, Bifidobacterium breve, Bifidobacterium scardovii and Bifidobacterium longum subsp. longum were isolated. Only a single non-oral bifidobacterial species was isolated from each individual and repetitive extragenic palindromic- and BOX-polymerase chain reaction typing methods indicated that the same genotypes were shared between subjects. Using deferred antagonism spot plate assays, interspecies inhibition was demonstrated between oral isolates of B. dentium, B. breve, B. scardovii and B. longum subsp. longum. Here we have shown that bifidobacteria and caries-associated microbiota are present in denture plaque at levels similar to those of carious lesions and B. dentium cannot be maintained in an edentulous mouth.
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2009
M Mantzourani, M Fenlon, D Beighton (2009)  Association between Bifidobacteriaceae and the clinical severity of root caries lesions.   Oral Microbiol Immunol 24: 1. 32-37 Feb  
Abstract: BACKGROUND/AIMS: The isolation of members of the family Bifidobacteriaceae (bifids) from oral samples has been sporadic and a recent cloning study has suggested that they are not detectable in root caries lesions. METHODS: To better understand the presence of bifids in root caries we obtained clinical samples (15 of each) from sound exposed root surfaces, leathery remineralizing root lesions, and soft active root lesions. We investigated each for the presence of bifids using a mupirocin-containing selective medium and identified the isolates using 16S recombinant RNA sequencing. RESULTS: The proportion of bifids, as a percentage of the total anaerobic count, was significantly related to the clinical status of the sites sampled, being 7.88 +/- 1.93 in the infected dentine from soft lesions, 1.61 +/- 0.91 in leathery lesions, and 0.05 +/- 0.39 in plaque from sound exposed root surfaces. Bifids were isolated from all soft lesions, 13 of 15 leathery lesions, and five of the plaque samples. Bifidobacterium dentium was isolated from four of the plaque samples, from 13 samples from leathery lesions, and from 12 of the 15 samples of infected dentine from the soft active lesions. Parascardovia denticolens and Scardovia genomospecies C1 were each isolated from samples associated with all three clinical conditions whereas Scardovia inopicata and Bifidobacterium subtile were both isolated from the infected dentine of the leathery and soft lesions. Bifidobacterium breve was isolated from the infected dentine of soft root caries lesions. CONCLUSION: Bifids may be routinely isolated from root caries lesions using appropriate cultural methods.
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M Mantzourani, S C Gilbert, H N H Sulong, E C Sheehy, S Tank, M Fenlon, D Beighton (2009)  The isolation of bifidobacteria from occlusal carious lesions in children and adults.   Caries Res 43: 4. 308-313 06  
Abstract: The aim of this study was to enumerate and identify bifidobacteria from occlusal carious lesions in permanent and deciduous teeth. Samples of infected dentine were obtained from 24 active occlusal lesions in deciduous teeth and from 15 occlusal lesions in permanent teeth. Plaque samples from sound occlusal surfaces of 12 caries-free adults and 12 children were also obtained. The bifidobacterial strains were isolated in mupirocin-containing selective media, Gram-stained and subcultured for identification. Total bacterial counts were determined using fastidious anaerobic agar, and isolates were identified using genus-specific PCR primers and were confirmed by 16S rRNA sequencing. Bifidobacteria were isolated from 13 of the 15 occlusal lesions in the adults and formed 5.09 +/- 2.11% of the total cultivable flora. In the children, bifidobacteria were isolated from 16 of the 24 occlusal lesions and formed 7.4 +/- 2.6% of the total flora. No bifidobacteria were isolated from the occlusal surfaces of caries-free adults or children. A total of 424 bifidobacteria were identified and these were Bifidobacteriumdentium, Parascardovia denticolens, Scardoviainopicata, Bifidobacterium longum, Scardovia genomosp. C1 and Bifidobacterium breve. B. dentium was present in 14 out of the 16 bifidobacteria-positive samples from the lesions on the deciduous teeth and in 7 out of the 13 positive lesions in adults (p = 0.04). The present data suggest that bifidobacteria may play a role in the progression of occlusal caries lesions in both children and adults.
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M G Mantzourani, K Chantziara, I Thanopoulou, H Variami, G Vaiopoulos, G A Pangalis (2009)  Coexistence of Behcet's disease and chronic myelomonocyte leukemia with trisomy 8: a case report and review of the literature.   Clin Exp Rheumatol 27: 2 Suppl 53. S85-S87 Mar/Apr  
Abstract: Behçet's disease (BD) is a multisystem inflammatory vasculitis of unknown etiology and pathogenesis. Coexistence of BD along with hematological malignancies is extremely rare. We describe a patient diagnosed with BD and chronic myelomonocytic leukaemia (CMML) with trisomy 8. This case suggests that trisomy 8 may be involved in the concurrent manifestation of myelodysplastic syndrome (MDS) and BD with gastrointestinal ulcers.
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Marco Ventura, Francesca Turroni, Aldert Zomer, Elena Foroni, Vanessa Giubellini, Francesca Bottacini, Carlos Canchaya, Marcus J Claesson, Fei He, Maria Mantzourani, Laura Mulas, Alberto Ferrarini, Beile Gao, Massimo Delledonne, Bernard Henrissat, Pedro Coutinho, Marco Oggioni, Radhey S Gupta, Ziding Zhang, David Beighton, Gerald F Fitzgerald, Paul W O'Toole, Douwe van Sinderen (2009)  The Bifidobacterium dentium Bd1 genome sequence reflects its genetic adaptation to the human oral cavity.   PLoS Genet 5: 12. Dec  
Abstract: Bifidobacteria, one of the relatively dominant components of the human intestinal microbiota, are considered one of the key groups of beneficial intestinal bacteria (probiotic bacteria). However, in addition to health-promoting taxa, the genus Bifidobacterium also includes Bifidobacterium dentium, an opportunistic cariogenic pathogen. The genetic basis for the ability of B. dentium to survive in the oral cavity and contribute to caries development is not understood. The genome of B. dentium Bd1, a strain isolated from dental caries, was sequenced to completion to uncover a single circular 2,636,368 base pair chromosome with 2,143 predicted open reading frames. Annotation of the genome sequence revealed multiple ways in which B. dentium has adapted to the oral environment through specialized nutrient acquisition, defences against antimicrobials, and gene products that increase fitness and competitiveness within the oral niche. B. dentium Bd1 was shown to metabolize a wide variety of carbohydrates, consistent with genome-based predictions, while colonization and persistence factors implicated in tissue adhesion, acid tolerance, and the metabolism of human saliva-derived compounds were also identified. Global transcriptome analysis demonstrated that many of the genes encoding these predicted traits are highly expressed under relevant physiological conditions. This is the first report to identify, through various genomic approaches, specific genetic adaptations of a Bifidobacterium taxon, Bifidobacterium dentium Bd1, to a lifestyle as a cariogenic microorganism in the oral cavity. In silico analysis and comparative genomic hybridization experiments clearly reveal a high level of genome conservation among various B. dentium strains. The data indicate that the genome of this opportunistic cariogen has evolved through a very limited number of horizontal gene acquisition events, highlighting the narrow boundaries that separate commensals from opportunistic pathogens.
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2008
David Beighton, Steven C Gilbert, Douglas Clark, Maria Mantzourani, Mustafa Al-Haboubi, Farida Ali, Elizabeth Ransome, Nicholas Hodson, Michael Fenlon, Liana Zoitopoulos, Jennifer Gallagher (2008)  Isolation and identification of bifidobacteriaceae from human saliva.   Appl Environ Microbiol 74: 20. 6457-6460 Oct  
Abstract: Bifidobacteriaceae were isolated from saliva and infected dentine by using a mupirocin-based selective medium. Of the saliva samples, 94% harbored bifids. The mean concentration (+/- the standard error) was 4.46 (+/-0.12) log(10)(CFU per ml + 1), and the predominant isolates were Bifidobacterium dentium, B. longum, Scardovia inopinata, Parascardovia denticolens, and Alloscardovia omnicolens.
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2007
M Mantzourani (2007)  Conscious sedation for children: a pilot study exploring dentists' attitudes, thoughts and beliefs.   SAAD Dig 23: 10-17 Jan  
Abstract: There is a lot of controversy around the subject of sedation for children. There are many sedative agents capable of providing successful results but there are also issues regarding their safe use on a regular basis. Guidelines do exist but sometimes there is leeway for different, individual interpretations. This pilot study is an attempt to explore the different views held on the matter of sedation as an adjunct to dental treatment for anxious children. An e-questionnaire was used and results varied. The preferred sedation type was inhalational sedation and the guidelines most dentists agreed with came from the GDC. Further research is definitely required in this field.
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A Onyenadum, H Gogas, C Markopoulos, D Bafaloukos, G Aravantinos, M Mantzourani, A Koutras, E Tzorakoelefterakis, N Xiros, T Makatsoris, G Fountzilas, H P Kalofonos (2007)  Mitoxantrone plus vinorelbine in pretreated patients with metastatic breast cancer.   J Chemother 19: 5. 582-589 Oct  
Abstract: Vinorelbine and mitoxantrone have both been demonstrated to have significant antitumor activity in patients with breast cancer. The aim of this study was to evaluate the efficacy and safety of the combination as second or third line treatment in patients with metastatic breast cancer (MBC). Fifty-one previously treated patients with MBC were enrolled from October 2001 to May 2004 and 48 were eligible for evaluation. Median age was 59 years (range 33-82) and ECOG performance status was < or =2. Distant sites of metastasis were as follows: liver 64%, bone 49%, lung 36%, lymph nodes 6%, skin 4%, brain 2% and other sites 6%. All patients received vinorelbine 20 mg/m(2), D1+8 and mitoxantrone 10 mg/m(2) D8 every 21 days for 6 cycles. All eligible patients were analyzed for toxicity and response. Two patients (4%) achieved complete response and 12 (25.5%) partial response. The objective overall response rate was 29.5% (95% confidence interval [CI] 17 - 45), 9 (19%) patients had stable disease, 17 (36%) had progressive disease and 7 (15%) were non-evaluable. After a median follow up of 18 months, overall survival was 13 months (range 0.8 - 38+) and median time to disease progression was 5 months (range 1 - 32). A total of 280 cycles was delivered. The relative dose intensities of mitoxantrone and vinorelbine were 79% and 77%, respectively. Toxicities (grade III-IV) were as follows: leukopenia 18 (38%), neutropenia 21 (45%), thrombocytopenia 1 (2%), anemia 4 (8.5%), alopecia 2 (4%) and constipation 1 (2%). Febrile neutropenia was recorded in one patient. There were no treatment related deaths. The combination of mitoxantrone and vinorelbine is an effective regimen with manageable toxicity in pretreated patients with advanced breast cancer.
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2006
H Gogas, A Polyzos, I Stavrinidis, K Frangia, D Tsoutsos, P Panagiotou, C Markopoulos, O Papadopoulos, D Pectasides, M Mantzourani, M Middleton, G Vaiopoulos, G Fountzilas (2006)  Temozolomide in combination with celecoxib in patients with advanced melanoma. A phase II study of the Hellenic Cooperative Oncology Group.   Ann Oncol 17: 12. 1835-1841 Dec  
Abstract: BACKGROUND: There is now increasing evidence that a constitutive expression of cyclooxygenase (COX)-2 plays a role in the development and progression of malignant epithelial tumors. Expression of COX-2 is seen in 93% of melanomas, as determined by immunohistochemistry. Temozolomide (TMZ) has demonstrated activity against melanoma and has been investigated as single agent or in combination. We designed a phase II study to assess the efficacy and toxicity of the combination of TMZ and celecoxib (a COX-2 inhibitor) in patients with advanced melanoma. PATIENTS AND METHODS: From January 2003 to July 2004, 52 patients were enrolled in the study. Nineteen patients were M1a, six M1b and 27 M1c. Patients received TMZ 200 mg/m(2) per day p.o. for 5 consecutive days every 4 weeks and celecoxib 400 mg b.i.d. p.o. for a maximum of six cycles. Celecoxib was continued until progression. RESULTS: The median age was 63 years. There were 29 males and 23 females. Among 50 assessable patients, there were 11 (21.5%) objective responses including five complete responses and six partial responses. Twenty patients (38.5%) had stabilization of their disease, and 19 (36.5%) progressed. The median time to progression was 4.6 months and the median survival 9.5 months. Twenty-two patients (41.5%) completed all cycles of treatment. Median relative dose intensity of TMZ was 0.99 (range 0.6-1.2). Most commonly seen toxic effects included anemia (27.5%), neutropenia (17.5%), thrombocytopenia (33%), nausea/vomiting (75%), gastrointestinal (52%) and fatigue (46.5%). One patient discontinued due to severe toxicity. COX-2 was determined by immunohistochemistry and was expressed in all cases. CONCLUSION: The combination of TMZ and celecoxib is safe and potentially effective in the treatment of metastatic melanoma. Randomized studies are needed to explore the role of celecoxib in combination with chemotherapy or as maintenance treatment in these patients.
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2005
Maria Tsironi, Panagiotis Andriopoulos, Spiros Fokas, George Nikokiris, Marina Mantzourani, George Assimakopoulos, Athanassios Aessopos (2005)  Acute Q fever lobar pneumonia: a case report.   J Infect 51: 3. e89-e91 Oct  
Abstract: Q fever is a zoonotic disease caused by Coxiella burnetii-an obligate, Gram-negative, intracellular bacteria. Acute febrile illness, hepatitis, and atypical pneumonia are the three most common manifestations, whereas lobar pneumonia is rarely reported among acute Q fever patients. We report a case of acute Q fever with lobar pneumonia and multi-organ involvement.
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2003
George Vaiopoulos, Kostas Konstantopoulos, Marina Mantzourani, Phaedon Kaklamanis (2003)  Multiple myeloma associated with systemic lupus erythematosus.   Leuk Lymphoma 44: 2. 373-374 Feb  
Abstract: A case of systemic lupus erythematosus (SLE) complicated by multiple myeloma is presented. The lupus diagnosis was established together with the diagnosis of myeloma but the symptoms had commenced a few years before. The putative mechanisms underlying this unusual combination are discussed.
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George Vaiopoulos, Kostas Konstantopoulos, Marina Mantzourani, Phaedon Kaklamanis (2003)  Multiple myeloma associated with systemic lupus erythematosus.   Leuk Lymphoma 44: 5. 893-894 May  
Abstract: A case of systemic lupus erythematosus (SLE) complicated by multiple myeloma is presented; the lupus diagnosis was put together with the diagnosis of myeloma but the symptoms had commenced a few years before. The putative mechanisms underlying this unusual combination are discussed.
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2002
Ersi Voskaridou, Evangelos Terpos, Veroniki Komninaka, Eftyhios Eftyhiadis, Marina Mantzourani, Dimitris Loukopoulos (2002)  Chronic myeloid leukaemia with marked thrombocytosis in a patient with thalassaemia major: complete haematological remission under the combination of hydroxyurea and anagrelide.   Br J Haematol 116: 1. 155-157 Jan  
Abstract: The co-existence of thalassaemia major and chronic myeloid leukaemia (CML) is a very rare event. We report a 32-year-old man with thalassaemia major whose progressively increasing leukocytosis and thrombocytosis led to the diagnosis of CML confirmed by the characteristic t(9;22)(q34;q11) chromosomal translocation and the bcr-abl (b3a2) DNA fusion. The patient was treated with hydroxyurea and anagrelide. This combination resulted in the satisfactory control of both the white blood cell and platelet counts, which has continued over the past 14 months with no major side-effects, albeit with no molecular response. The administration of hydroxyurea was also associated with a significant HbF increase.
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2001
P Kollia, N Stavroyianni, K Stamatopoulos, K Zoi, N Viniou, M Mantzourani, C T Noguchi, G Paterakis, D Abazis, C Pangalos, D Loukopoulos, X Yataganas (2001)  Molecular analysis of transferrin receptor mRNA expression in acute myeloid leukaemia.   Br J Haematol 115: 1. 19-24 Oct  
Abstract: Transferrin receptor (TfR, CD71) is an integral membrane glycoprotein that mediates cellular uptake of iron. In most tissues, TfR expression is correlated positively with proliferation and regulated at the post-transcriptional level. The available data regarding the pattern of TfR gene expression in haematological malignancies are very limited. In the present study, we evaluated TfR gene expression at the molecular level in bone marrow (BM) samples of 44 patients with de novo acute myeloid leukaemia (AML) at diagnosis with BM blasts > 85%. TfR mRNA levels were determined by densitometric analysis of quantitative reverse transcription polymerase chain reaction products corresponding to TfR exons 15-17. Each sample was tested in at least two independent experiments. In 13/44 patients, TfR messages were not detected (this is probably an underestimate as some positive results may be attributed to residual normal erythroid cells present in the samples). In 17/44, TfR mRNA levels were low-intermediate, and were high in the remaining patients (14/44). TfR mRNA positivity was significantly associated with older age. No statistically significant correlations were found either with specific French-American-British (FAB) subtypes or attainment of complete remission, incidence of relapse and survival (after adjusting accordingly for age and FAB subtype). The absence of TfR mRNA transcripts in a significant minority of cases suggests that alternative mechanisms of iron uptake may function in AML blast cells.
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2000
1999
MARINA Mantzourani, NIKI Stavroyianni, DANAI Abazis, PANAYIOTIS Kyriazopoulos, CONSTANTINOS Pangalos, DIMITRIS Loukopoulos, XENOPHON Yataganas (1999)  Malignancy: Molecular Demonstration of BCR/ABL Fusion in a Patient with Chronic Myelogenous Leukemia with Basophilia Carrying a Variant t(16;22) (q24;q11) Philadelphia Chromosome.   Hematology 4: 3. 211-216  
Abstract: We report a patient with chronic myelogenous leukemia in chronic phase and basophilia which was found to carry a simple variant t(16;22) (q24;q11) Philadelphia (Ph) chromosome in unstimulated bone marrow mononuclear cells. Molecular analysis of peripheral blood and bone marrow mononuclear cells demonstrated the presence of a bcr-abl chimeric mRNA transcript of the b(3) -a(2) type. These findings confirm that band 9q34 participates in the formation of all Ph chromosomes, either standard or variant, even when this is not detectable by conventional cytogenetics. The available literature concerning variant Philadelphia translocations is also reviewed.
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1996
M Mantzourani, K Stamatopoulos, D Abazis, F Kontopidou, N Viniou, G A Pangalis, C Pangalos, D Loukopoulos (1996)  Molecular demonstration of BCR/ABL fusion in two cases with chronic myeloproliferative disorder carrying variant Philadelphia t(14;22)(q32;q11).   Cancer Genet Cytogenet 91: 1. 82-87 Oct  
Abstract: We report two cases with chronic myeloproliferative disorder which were found to carry simple variant Philadelphia (Ph) t(14;22)(q32;q11) in unstimulated bone marrow mononuclear cells. Both cases were characterized molecularly by Southern blot, reverse transcription-polymerase chain reaction (RT-PCR), and direct sequencing of the RT-PCR products. In the first case (female, aged 65, in blastic transformation which developed one year after the initial diagnosis of myelofibrosis), a t(14;22) (q32;q11) was found in association with several other chromosomal abnormalities [48,XX,+X,+5,del(5) (q12q32),+8,der(9)t(9;11)(q32;q11),-11]; molecular analysis demonstrated the presence of a BCR-ABL chimeric gene and mRNA transcript of the b2-a2 type. In the second case (female, aged 16, with clinical and hematologic features typical of chronic myelogenous leukemia in chronic phase), a t(14;22) (q32;q11) was identified as the sole karyotypic abnormality; again, molecular analysis demonstrated the presence of a BCR-ABL chimeric gene and mRNA transcript, this time of the b3-a2 type. Our findings further support the notion that, even when undetectable by conventional cytogenetics, band 9q34 participates in all Ph chromosomes and leads to the formation of chimeric BCR-ABL genes.
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1995
A Aessopos, G Stamatelos, V Skoumas, G Vassilopoulos, M Mantzourani, D Loukopoulos (1995)  Pulmonary hypertension and right heart failure in patients with beta-thalassemia intermedia.   Chest 107: 1. 50-53 Jan  
Abstract: We analyzed seven patients with beta-thalassemia intermedia presenting with congestive heart failure secondary to pulmonary hypertension. This condition has been recognized only recently as part of the clinical spectrum of beta-thalassemia. Our group of patients included two men and five women with the clinical picture and laboratory data typical of beta-thalassemia intermedia. The mean age was 37.7 +/- 11.4 years, mean hematocrit value was 28.5 +/- 1.8%, mean number of transfused blood units was 171 +/- 153, and mean serum ferritin levels were 4,428 +/- 2,006 ng/mL. All but one of these patients had undergone splenectomy. Common findings of the investigative procedures include the following: dilation of the main pulmonary artery and cardiac enlargement in the chest radiograph; signs of right ventricular hypertrophy in the ECG; and dilated right ventricle with good left ventricular function in the echo study. Right heart catheterization showed the pulmonary systolic pressure to range from 55 to 90 mm Hg (74.1 +/- 10.3), pulmonary diastolic pressure from 25 to 50 mm Hg (37.7 +/- 8.7), mean pressure from 35 to 60 mm Hg (49.7 +/- 7.9), and pulmonary vascular resistance from 267 to 667 dynes.s.cm-5. Pulmonary capillary wedge pressure was within the normal range of values. The pathophysiologic condition of pulmonary hypertension in these patients is most probably associated with beta-thalassemia. There are mechanisms that increase cardiac output and at the same time restrict the pulmonary vascular bed. The results of this study imply that treatment decisions should be reconsidered for such patients.
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