Papers by Smaranda Demian
Journal of Interdisciplinary Medicine, Feb 28, 2023
During the COVID-19 pandemic, vitamin D was used along with vitamin C and zinc as a preventive an... more During the COVID-19 pandemic, vitamin D was used along with vitamin C and zinc as a preventive and curative therapy against SARS-CoV-2 infection. Vitamin D toxicity, even if it is rare, occurs when serum concentrations exceed 150 ng/mL and is usually manifested by hypercalcemia phenomena. Case report: We hereby report a case of two twin sisters who selfmedicated with vitamin D in a dose of 4 × 4,000 IU/day for almost 10 months as a method of 'protection' against COVID-19, influenced by mass media advertising. The patients presented to the emergency department with hypervitaminosis D-related symptoms such as hypertension, headache, nausea, vomiting, and diffuse abdominal pain. Laboratory investigations revealed high levels of vitamin D and calcium. Conclusions: Vitamin D toxicity can lead to difficulties in positive and differential diagnosis because of the multiple complications of hypercalcemia.
PubMed, Jul 1, 1993
In a 69-year-old man with hepatomegaly, a diagnosis of primary non-Hodgkin's lymphoma (NHL) of th... more In a 69-year-old man with hepatomegaly, a diagnosis of primary non-Hodgkin's lymphoma (NHL) of the liver was made by fine needle aspiration (FNA). At the time of presentation there was no evidence of involvement of the lymph nodes, bone marrow or any other organ. Although hepatic involvement is common in advanced stages of Hodgkin's disease and NHL, primary lymphoma of the liver is rare. The purpose of this paper is to report a rare occurrence of primary lymphoma of the liver and to demonstrate the possibility of making this diagnosis by FNA.
PubMed, Jul 1, 2016
XRCC1 polymorphisms may alter the individual’s capacity to repair DNA damages and may increase th... more XRCC1 polymorphisms may alter the individual’s capacity to repair DNA damages and may increase the risk for developing different types of cancer, including Non-Hodgkin Lymphoma (NHL). The purpose of our study was to investigate the association between XRCC1 Arg194Trp and Arg399Gln polymorphisms and risk of NHL, in a case-control study consisted of 81 patients with NHL and 113 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods were performed to determine the XRCC1 genotypes. A statistically significant association was observed between the XRCC1 Arg194Trp polymorphism and risk of NHL (p < 0.0001, OR = 7.01, 95% CI = 2.488-19.753) in both male and female. We found no association between NHL and control groups with respect to XRCC1 Arg399Gln polymorphism (p = 0.4867, OR = 1.346, 95% CI = 0.5822-3.111). Also, we did not find differences between the XRCC1 polymorphisms and NHL risk taking into account the IPI score, ECOG performance status, Ann Arbor stage and the treatment outcome (p > 0.05, for all comparisons). Our results suggested an increased risk for NHL regarding the XRCC1 Arg194Trp polymorphism in a Romania population, while XRCC1 Arg399Gln polymorphism is not associated with NHL. Further work is needed to validate these results on a larger sample study.
Polymorphisms of the glutathione S-transferases (GSTs), which are involved in the cellular oxidat... more Polymorphisms of the glutathione S-transferases (GSTs), which are involved in the cellular oxidative and antioxidant mechanisms of the xenobiotic substances and carcinogens, represents a factor that increases the risk of developing cancer. We aimed to determine in a case-control study (82 patients and 152 controls) a possible association between the GSTT1, GSTM1 and GSTP1 gene polymorphisms and susceptibility to non-Hodgkin lymphoma (NHL) in a Romanian population. GTSs genotypes were obtained using the multiplex polymerase chain reaction (PCR) and the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Increased frequencies of the GSTM1 null genotype were observed in the patients (51.22%) with NHL and in controls (56.58%). No associations were observed between GSTP1 Ile/Val + Val/Val and GSTM1 null genotypes and risk of NHL, while an increased risk for GSTT1 null genotype was noticed without statistical significance. We did not find differences for the combined GST gene polymorphisms and risk of NHL between patients and controls. Also, no differences between patients' demographic and clinical characteristics and GTSs genotypes were detected (p>0.05, for all comparisons). Therefore, our research suggests that GSTM1, GSTT1, and GSTP1 genotypes do not contribute to the risk of developing NHL.
BioMed Research International, 2014
The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross... more The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross complementing group 3 (XRCC3), and xeroderma pigmentosum complementation group D (XPD) repair genes may lead to genetic instability and leukemogenesis. The purpose of the study was to evaluate the association between XRCC1 Arg399Gln, Arg280His and Arg194Trp, XRCC3 Thr241Met, and XPD Lys751Gln polymorphisms and the risk of developing CML in Romanian patients. A total of 156 patients diagnosed with CML and 180 healthy controls were included in this study. We found no association between CML and XRCC1 or XRCC3 variant genotypes in any of the investigated cases. A significant difference was observed in the variant genotype frequencies of the XPD Lys751Gln polymorphism between the patients with CML and control group (for variant homozygous genotypes, OR = 2.37; 95% CI = 1.20-4.67; P value = 0.016 and for combined heterozygous and variant homozygous genotypes, OR = 1.72; 95% CI = 1.10-2.69; P value = 0.019). This was also observed when analyzing the variant 751Gln allele (OR = 1.54; 95% CI = 1.13-2.11; P value = 0.008). Our results suggest that the XPD Lys751Gln variant genotype increases the risk of CML.
F1000Research, Feb 2, 2016
Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid prec... more Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient's case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndromeassociated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died.
Practica medicală, Jun 30, 2020
The primary cutaneous diffuse large B-cell lymphoma leg type (PCDLBCL-LT) is a rare form of cutan... more The primary cutaneous diffuse large B-cell lymphoma leg type (PCDLBCL-LT) is a rare form of cutaneous lymphoma with aggressive and unpredictable evolution. The patients are often aged and with comorbid conditions so that immunochemotherapy can be poorly tolerated. Despite its complexity, a differential diagnosis is possible in the primary care setting and it is of great importance in guiding further investigation and referral. We present the case of a 70-year-old man with reddish nodular lesions appeared on the anterior region of the right tibia. Anatomopathological subtype identified a PCDLBCL-LT, T2aN1M0 stage. The first line of R-CHOP regimen (rituximab-cyclophosphamide, doxorubicin, vincristine, prednisone) associating intrathecal prophylaxis with methotrexate was prescribed with a good response. An early relapse after first line chemotherapy was noticed. Salvage R-DHAP regimen (rituximab-dexamethasone, high dose cytarabine, cisplatin) with modest response and progression of the disease under chemotherapy was instituted. During targeted therapy, the patient experienced an acute myocardial infarction, heart failure, and acute kidney injury. Thus, comorbid conditions have dramatically reduced systemic therapeutic options. The multidisciplinary approach with the implication of general physician, hematologist, cardiologist and other specialists was necessary for the management of this case.
Journal of Interdisciplinary Medicine, Sep 1, 2022
Introduction: Schnitzler syndrome (SchS), first described in 1972, is a rare autoinflammatory con... more Introduction: Schnitzler syndrome (SchS), first described in 1972, is a rare autoinflammatory condition characterized by chronic urticaria and monoclonal gammopathy of IgM or, exceptionally, IgG profile. Additional features include recurrent fever, evidence of abnormal bone remodeling, a neutrophilic dermal infiltrate on skin biopsy, leukocytosis or elevated C-reactive protein, according to the Strasbourg criteria. Case Presentation: We describe the case of a 56-year-old Caucasian male patient, who suffered from chronic urticaria, moderate-grade fever, severe generalized fatigue and arthralgias. After five years of chronic disease evolution, he was referred to the hematology department where he was found to have IgM kappa light chain monoclonal gammopathy. The constellation of symptoms, a negative rheumatologic workup, and the finding of IgM monoclonal gammopathy determined the diagnosis of Schnitzler syndrome. Bone marrow biopsy proved the association of Waldenström macroglobulinemia. Conclusion: The main goal of our case report was to highlight the clinical features and treatment, with emphasis on the hematological aspects, to provide a better understanding and to raise awareness of Schnitzler syndrome among healthcare professionals.
Archives of Medical Science, Mar 18, 2021
Results TERT rs2736100 and rs2853669 were not associated with AML risk in the codominant, dominan... more Results TERT rs2736100 and rs2853669 were not associated with AML risk in the codominant, dominant, recessive or allelic models. Multivariate Cox regression showed that TERT rs2853669 was a significant predictor for overall survival in AML patients. After adjusting for age, gender, cytogenetic risk group, ECOG status, FTLT3, DNM3A or NMP1 mutation, AML subtype and treatment, the estimated adjusted hasard ratio (HR adjusted=1.54, 95%CI:[1.01;2.35]) showed that the TERT rs2853669 variant genotype had a negative influence on survival time. Conclusions TERT rs2853669 and rs2736100 polymorphisms were not risk factors for developing AML in the Romanian population, but TERT rs2853669 variant genotype had a negative effect on AML patients overall survival in the presence of other known prognostic factors.
Journal of Interdisciplinary Medicine
Introduction Sweet syndrome, also called acute febrile neutrophilic dermatosis, is a rare disorde... more Introduction Sweet syndrome, also called acute febrile neutrophilic dermatosis, is a rare disorder characterized by skin lesions accompanied by high fever and elevated inflammatory markers. Case Presentation In January 2023, a 73-year-old Caucasian male was diagnosed with acute myeloblastic leukemia and subsequently chemotherapy with azacitidine and venetoclax was initiated. One week after the second round of chemotherapy with azacitidine, the patient developed a fever of 39˚C. Physical examination revealed purple plaques on the skin of the head, neck, and arms associated with pain but not itching. Initially, the plaques appeared at the site of the subcutaneous azacitidine injection (left upper extremity) and then began to spread. The infectious diseases consultation established the diagnosis of multiple abscesses. Antibiotic therapy was initiated with meropenemum and linezolidum, and later colistin was associated, but the skin lesions and the patient’s condition worsened. A dermato...
Journal of Interdisciplinary Medicine
Introduction: Schnitzler syndrome (SchS), first described in 1972, is a rare autoinflammatory con... more Introduction: Schnitzler syndrome (SchS), first described in 1972, is a rare autoinflammatory condition characterized by chronic urticaria and monoclonal gammopathy of IgM or, exceptionally, IgG profile. Additional features include recurrent fever, evidence of abnormal bone remodeling, a neutrophilic dermal infiltrate on skin biopsy, leukocytosis or elevated C-reactive protein, according to the Strasbourg criteria. Case Presentation: We describe the case of a 56-year-old Caucasian male patient, who suffered from chronic urticaria, moderate-grade fever, severe generalized fatigue and arthralgias. After five years of chronic disease evolution, he was referred to the hematology department where he was found to have IgM kappa light chain monoclonal gammopathy. The constellation of symptoms, a negative rheumatologic workup, and the finding of IgM monoclonal gammopathy determined the diagnosis of Schnitzler syndrome. Bone marrow biopsy proved the association of Waldenström macroglobulinem...
The primary cutaneous diffuse large B-cell lymphoma leg type (PCDLBCL-LT) is a rare form of cutan... more The primary cutaneous diffuse large B-cell lymphoma leg type (PCDLBCL-LT) is a rare form of cutaneous lymphoma with aggressive and unpredictable evolution. The patients are often aged and with comorbid conditions so that immunochemotherapy can be poorly tolerated. Despite its complexity, a differential diagnosis is possible in the primary care setting and it is of great importance in guiding further investigation and referral. We present the case of a 70-year-old man with reddish nodular lesions appeared on the anterior region of the right tibia. Anatomopathological subtype identified a PCDLBCL-LT, T2aN1M0 stage. The first line of R-CHOP regimen (rituximab – cyclophosphamide, doxorubicin, vincristine, prednisone) associating intrathecal prophylaxis with methotrexate was prescribed with a good response. An early relapse after first line chemotherapy was noticed. Salvage R-DHAP regimen (rituximab-dexamethasone, high dose cytarabine, cisplatin) with modest response and progression of t...
Journal of Clinical Medicine, 2020
Introduction. Cardiovascular risk factors, pre-existing comorbidities, molecular factors, and the... more Introduction. Cardiovascular risk factors, pre-existing comorbidities, molecular factors, and the direct effects of second- and third-generation BCR-ABL1 tyrosine kinase inhibitors on the vascular endothelium contribute to the progression of cardiovascular (CV) events, especially atherothrombotic conditions. The study objective was to evaluate comorbidities, the cardiovascular risk profile, and events throughout the chronic myeloid leukaemia disease course. Methods. Retrospective data from adults who experienced haematology treatment at a single centre were continuously updated and followed throughout the disease course. A total of 43 subjects conforming with the inclusion and exclusion criteria of the study protocol were finally recruited. The median disease course was 77.0 ± 17.5 months. Statistical analyses were performed. Results. More than three CV risk factors were identified in 41.9% of cases. Almost half of the cases had relevant comorbidities (Charlson Comorbidity Index (CC...
F1000Research, 2016
Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid prec... more Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient’s case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. Th...
BioMed Research International, 2014
The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross... more The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross complementing group 3 (XRCC3), and xeroderma pigmentosum complementation group D (XPD) repair genes may lead to genetic instability and leukemogenesis. The purpose of the study was to evaluate the association betweenXRCC1Arg399Gln, Arg280His and Arg194Trp,XRCC3Thr241Met, andXPDLys751Gln polymorphisms and the risk of developing CML in Romanian patients. A total of 156 patients diagnosed with CML and 180 healthy controls were included in this study. We found no association between CML andXRCC1orXRCC3variant genotypes in any of the investigated cases. A significant difference was observed in the variant genotype frequencies of theXPDLys751Gln polymorphism between the patients with CML and control group (for variant homozygous genotypes,OR=2.37; 95%CI=1.20–4.67;Pvalue = 0.016 and for combined heterozygous and variant homozygous genotypes,OR=1.72; 95%CI=1.10–2.69;Pvalue = 0.019). This was al...
Gene, 2013
Part of the Organic Chemistry Commons Recommended Citation Recommended Citation Kelleher, F. and ... more Part of the Organic Chemistry Commons Recommended Citation Recommended Citation Kelleher, F. and O'Proinsias, K. Use of the Mitsunobu reaction in the synthesis of orthogonally protected a,b-diaminopropionic acids.
Revista Romana de Medicina de Laborator, 2016
Patients with myelodysplastic syndromes (MDS) show highly variable clinical course. The average o... more Patients with myelodysplastic syndromes (MDS) show highly variable clinical course. The average overall survival is 15-30 months, and the risk of acute myeloid leukaemia (AML) transformation is 25-30% after five years. The molecular mechanisms of leukemic progression and transformation are still incompletely understood. TP53 mutation frequency in MDS is 5-10%, these being associated to all clinical forms of the disease, determining a shorter overall survival. The objective of our study was to evaluate the relationship of p53 protein expression with survival and AML transformation in MDS patients. We quantified the p53 levels by the means of immunohistochemical staining and a digital morphometric approach in MDS bone marrow biopsy specimens. In our cohort, a higher p53 protein expression was observed in the high leukemic transformation risk group. p53 expression, together with the bone marrow blast count, proved to be a significant risk predictor when analysing survival.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie, 2009
The aim of this study is to present the diagnostic and differential diagnostic criteria of the bo... more The aim of this study is to present the diagnostic and differential diagnostic criteria of the bone marrow specimen involved by lymphomas based on the histomorphological immunophenotype features and clonality of the tumor cells, patterns of lymphoproliferation and diagnostic pitfalls. BMB material obtained from the right posterior iliac crest was represented from 87 untreated and treated patients with BM involving malignant lymphoma, stained with Hematoxylin-Eosin, Giemsa, Periodic Acid Schiff and Gömöri's Silver. In order to perform immunohistochemistry examination we used a large antibody panel. B-cell clonality was determined in six cases. We found eight reactive lymphoproliferative responses and 79 lymphoid neoplasms of which 45 were diagnosed as de novo lymphoma, the rest of 34 samples being examined for staging. The predominant lymphoma was CLL (30 cases), over followed by DLBCL (18 cases). The most frequent patterns of involvement were the interstitial (29%) and mixed (15...
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Papers by Smaranda Demian