Romanian Journal of Internal Medicine最新文献

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In memoriam: Professor Radu Voiosu. 纪念:拉杜-沃奥苏教授。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-04-03 DOI: 10.2478/rjim-2024-0014
{"title":"In memoriam: Professor Radu Voiosu.","authors":"","doi":"10.2478/rjim-2024-0014","DOIUrl":"https://doi.org/10.2478/rjim-2024-0014","url":null,"abstract":"","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140864209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Is there an association between lymph node size and hyperprogression in immunotherapy-treated patients? 免疫治疗患者的淋巴结大小和过度进展之间是否存在关联?
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0025
Mohammad S Alkader, Rashed Z Altaha, Eslam H Jabali, Ola A Attieh, Ala' W Matalqa
{"title":"Is there an association between lymph node size and hyperprogression in immunotherapy-treated patients?","authors":"Mohammad S Alkader, Rashed Z Altaha, Eslam H Jabali, Ola A Attieh, Ala' W Matalqa","doi":"10.2478/rjim-2023-0025","DOIUrl":"10.2478/rjim-2023-0025","url":null,"abstract":"<p><strong>Background: </strong>Hyperprogressive disease (HPD) can be described as an accelerated increase in the growth rate of tumors combined with rapid clinical deterioration observed in a subset of cancer patients undergoing immunotherapy, specifically with immune checkpoint inhibitors (ICIs). The reported incidence of HPD ranges from 5.9% to 43.1% in patients receiving ICIs. In this context, identifying reliable predictive risk factors for HPD is crucial as it may allow for earlier intervention and ultimately improve patient outcomes.</p><p><strong>Methods: </strong>This study retrospectively analyzed ten metastatic renal cell carcinoma (mRCC) patients. The identification of HPD was based on the diagnostic criteria proposed by Ferrara R <i>et al.</i> This study aimed to investigate whether there is an association between LN size and HPD using a cutoff value of 3 cm for LN size. Given the limited sample size, Fisher's exact test was used to test this association. We conducted a Kaplan-Meier (KM) analysis to estimate the median overall survival (OS) of patients with HPD and compared it to those without HPD.</p><p><strong>Results: </strong>Three patients (30%) developed HPD, while seven (70%) did not. Fisher's exact test revealed a statistically significant association between the HPD and LN size ≥ 3 cm (p=0.008). In the HPD group, the median OS was significantly shorter, with a median OS of 3 months, whereas in the non-HPD group, the median OS was not reached (P =0.001).</p><p><strong>Conclusion: </strong>The present study found a significant association between LN size ≥ 3 cm in the pretreatment period and HPD development.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"33-43"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50162773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The crucial role of gadolinium-enhanced MRI in a case of amaurosis fugax - a case report and literature review. 钆增强MRI在一例黑蒙中的重要作用——一例报告和文献综述。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0026
Maria Mirabela Manea, Dorin Dragoş, Ana-Maria Dobri, Maria Iuliana Ghenu, Iulia-Cosmina Stoican, Iulia-Ioana Enache, Sorin Tuta
{"title":"The crucial role of gadolinium-enhanced MRI in a case of amaurosis fugax - a case report and literature review.","authors":"Maria Mirabela Manea, Dorin Dragoş, Ana-Maria Dobri, Maria Iuliana Ghenu, Iulia-Cosmina Stoican, Iulia-Ioana Enache, Sorin Tuta","doi":"10.2478/rjim-2023-0026","DOIUrl":"10.2478/rjim-2023-0026","url":null,"abstract":"<p><p>Optic perineuritis is the inflammation of the optic nerve sheath. This affliction can lead to visual field impairment and other signs and symptoms related to the orbital space, such as pain, disc edema, ophthalmoplegia, proptosis. However, not all patients present with such suggestive symptoms, requiring a thorough assessment. We report the case of a young male admitted to our hospital for recurrent episodes of monocular blindness. Amaurosis fugax is a well-known presentation of transient ischemic attacks (TIA) and it was ruled out. Gadolinium-enhanced MRI revealed a typical aspect of optic perineuritis. It was mandatory to consider all possible causes of secondary optic perineuritis as they all represent serious clinical conditions, even if the idiopathic form is more frequent. The clinical and paraclinical evaluation of the patient excluded an underlying disease and primary optic perineuritis was diagnosed. Corticosteroid therapy is usually curative and a course of methylprednisolone was initiated for our patient with good outcome. However, response to treatment is not diagnostic as both primary and secondary optic perineuritis are normally responsive, hence thorough differential diagnosis is necessary.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"75-81"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71426532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The hidden and complex relationship between dietary phosphorus and malnutrition in hemodialysis patients with chronic kidney disease. 慢性肾脏疾病血液透析患者膳食磷与营养不良之间隐藏而复杂的关系
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0029
Clonia Milla, Widodo, Teddy Heri Wardhana
{"title":"The hidden and complex relationship between dietary phosphorus and malnutrition in hemodialysis patients with chronic kidney disease.","authors":"Clonia Milla, Widodo, Teddy Heri Wardhana","doi":"10.2478/rjim-2023-0029","DOIUrl":"10.2478/rjim-2023-0029","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic kidney disease (CKD) has always been a complicated global challenge, ranking as the 12th leading cause of death worldwide. Hemodialysis, being one of the most opted renal replacement therapies (RRTs) for patients with end-stage renal disease (ESRD), still possesses some limitations in preventing complications, such as malnutrition and mineral bone disease (CKD-MBD). While efforts have focused on controlling CKD-MBD parameters like calcium and phosphate, less attention has been given to dietary interventions. Moreover, the adoption of low-phosphorus diets for hemodialysis patients is very complex due to potential conflicts with the guideline-recommended high-protein dietary approach. This study sought to investigate the relationship between dietary phosphorus intake and nutritional status in CKD patients undergoing regular hemodialysis.</p><p><strong>Method: </strong>This non-randomized cross-sectional study comprising 88 patients was conducted at the Hemodialysis Unit, RSUD Dr. Soetomo, Surabaya, East Java, using a three-day dietary record in March 2022. Relationships between variables were analyzed using Spearman and ANOVA tests.</p><p><strong>Result: </strong>No significant positive association was found between dietary calcium with corrected calcium levels (p = 0.988; r<sub>s</sub> = -0.002) and between dietary phosphorus with plasma phosphate levels (p = 0.082; r<sub>s</sub> = 0.187). However, Spearman's analysis revealed a weak but positive correlation between dietary phosphorus and nutritional status (p = 0.022; r<sub>s</sub> = 0.215*).</p><p><strong>Conclusion: </strong>Our study highlights a positive relationship between dietary phosphorus and nutritional status among hemodialysis patients, offering insights into potential strategies for optimizing patient care and outcomes.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"52-60"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138291735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immune dysfunction in patients with end stage kidney disease; Immunosenescence - Review. 终末期肾病患者的免疫功能障碍免疫衰老-综述。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0030
Viorica Ileana Bumbea, Horia Bumbea, Ana Maria Vladareanu
{"title":"Immune dysfunction in patients with end stage kidney disease; Immunosenescence - Review.","authors":"Viorica Ileana Bumbea, Horia Bumbea, Ana Maria Vladareanu","doi":"10.2478/rjim-2023-0030","DOIUrl":"10.2478/rjim-2023-0030","url":null,"abstract":"<p><p>The body's defense against environmental factors is realized by physical barriers and cells of both the innate and adaptive immune systems. Patients with end stage kidney disease (ESKD), especially those treated by hemodialysis, have changes in both the function and the number or percent of different leukocyte subsets. Changes were described at the level of monocytes and lymphocyte subsets, which are associated with immunodeficiencies and pro-inflammatory status correlated with degenerative changes and increased cardiovascular risk. These abnormalities have been compared over the past years with alterations appearing as a result ageing. Also, similitudes regarding immunosenescence observed in ESKD patients, in combination with chronic inflammation, are described as the so-called \"inflammaging syndrome\".</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"12-19"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138291734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Central retinal vein occlusion : an uncommon complication in sarcoidosis. 视网膜中央静脉阻塞:结节病的一种罕见并发症。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0024
Imen Chabchoub, Chifa Damak, Marwa Bouhamed, Mouna Rekik, Cyrine Abid, Faten Frikha, Sonda Kammoun, Yoldez Ben Jemaa, Sameh Marzouk, Zouhir Bahloul
{"title":"Central retinal vein occlusion : an uncommon complication in sarcoidosis.","authors":"Imen Chabchoub, Chifa Damak, Marwa Bouhamed, Mouna Rekik, Cyrine Abid, Faten Frikha, Sonda Kammoun, Yoldez Ben Jemaa, Sameh Marzouk, Zouhir Bahloul","doi":"10.2478/rjim-2023-0024","DOIUrl":"10.2478/rjim-2023-0024","url":null,"abstract":"<p><p>Sarcoidosis is a multi-system granulomatosis of unknown etiology, defined by the presence of epithelioid and gigantocellular granulomas, without caseous necrosis. Ocular sarcoidosis manifests mainly as bilateral granulomatous anterior uveitis. Occlusion of the central retinal vein in sarcoidosis is a rare manifestation, which is the particularity of our observation. We report the case of a patient presenting with unilateral central retinal vein occlusion associated with granulomatous anterior uveitis on the same side. Systemic manifestations and further investigations led to the diagnosis of sarcoidosis.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"82-87"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49681757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Carpal tunnel syndrome and nerve conduction studies in fibromyalgia patients. 纤维肌痛患者腕管综合征和神经传导的研究。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0031
Gülseren Demir Karakiliç, Güven Arslan
{"title":"Carpal tunnel syndrome and nerve conduction studies in fibromyalgia patients.","authors":"Gülseren Demir Karakiliç, Güven Arslan","doi":"10.2478/rjim-2023-0031","DOIUrl":"10.2478/rjim-2023-0031","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study is to evaluate ENMG results of female patients with Fibromyalgia Syndrome (FMS) with a preliminary diagnosis of carpal tunnel syndrome (CTS) and to examine whether there are differences in ENMG results compared to control group.</p><p><strong>Material and methods: </strong>Ethical approval was obtained for this study on 30.12.2022 with number E. Kurul-2022-20/32 and recorded retrospectively between January 2021 and January 2023. 201 female patients who were diagnosed with FMS in Physical Therapy and Rehabilitation polyclinic and who were requested to have ENMG testing with a preliminary diagnosis of CTS were included in study as patient group. 201 patients were ıncluded as control group.</p><p><strong>Results: </strong>While the number of patients with right CTS was 39 (25.49%) in the FMS group, the number of patients with right CTS was 38 (24.20%) in control group. While the number of patients with left CTS was 34 (25%) in the FMS group, number of patients with left CTS in the control group was 36 (24.65%). When we analyzed a total of 592 ENMG results in our study, we found a high normal ENMG rate of 75%.</p><p><strong>Conclusion: </strong>We found that there was no difference between the FMS and the control group in terms of compatibility between the pre-diagnosis and electroneurophysiological diagnosis in the ENMG results requested with the pre-diagnosis of CTS in our study. The ENMG examination should be requested for right patient in right indication, by first evaluating the patient well.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"61-66"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138291733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Massive primary pulmonary artery rhabomyosarcoma: A case report. 大块原发性肺动脉横纹肌肉瘤1例报告。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0032
Farid Rashidi, Eissa Bilehjani, Seyed Ali Mousavi-Aghdas, Rezayat Parvizi
{"title":"Massive primary pulmonary artery rhabomyosarcoma: A case report.","authors":"Farid Rashidi, Eissa Bilehjani, Seyed Ali Mousavi-Aghdas, Rezayat Parvizi","doi":"10.2478/rjim-2023-0032","DOIUrl":"10.2478/rjim-2023-0032","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary artery sarcomas (PAS) are rare tumours causing an insidiously progressive obstruction of the pulmonary circulation. The clinical presentation is often indistinguishable from chronic thromboembolic pulmonary hypertension (CTEPH). However, the atypical appearance of a heterogeneous filling defect in CT pulmonary angiography (CTPA) should prompt further investigation.</p><p><strong>Case presentation: </strong>A previously healthy young man presented with massive haemoptysis, acute respiratory distress, and progressive exertional dyspnea since the year before. Echocardiography demonstrated severe right ventricular dysfunction and highly probable pulmonary hypertension. CTPA revealed an extensive filling defect with an appearance concerning PAS. Due to syncopal episodes at rest, the patient underwent urgent pulmonary artery endarterectomy (PEA). A massive tree-like tumour was excised as a result. Post-operatively, reperfusion injury and refractory pulmonary oedema mandated extracorporeal membrane oxygenation (ECMO). Unfortunately, ECMO was complicated with massive haemolysis and acute kidney injury. The patient succumbed to multi-organ failure. Through tissue analysis established a diagnosis of embryonal rhabdomyosarcoma.</p><p><strong>Discussion: </strong>Unfortunately, the patient had not reached out for his worsening dyspnea. PASs should not be mistaken for a thrombus and anticoagulation should be avoided. The urgent condition precluded biopsy and tissue diagnosis. Similarly, neoadjuvant chemotherapy was not feasible. Post-operatively, reperfusion injury and pulmonary oedema ensued, which mandated ECMO. This complication should be anticipated preoperatively. There is a need for more data on PASs to establish a consensus for management.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"67-74"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical features and outcomes in patients with human immunodeficiency virus-negative, Castleman's disease: a single medical center study in Tunisia. 人类免疫缺陷病毒阴性Castleman病患者的临床特征和结果:突尼斯一项单一医学中心研究。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0028
Imen Chabchoub, Raida Ben Salah, Rim Kallel, Mouna Snoussi, Feten Frikha, Sameh Marzouk, Tahya Sellami Boudawara, Zouhir Bahloul
{"title":"Clinical features and outcomes in patients with human immunodeficiency virus-negative, Castleman's disease: a single medical center study in Tunisia.","authors":"Imen Chabchoub, Raida Ben Salah, Rim Kallel, Mouna Snoussi, Feten Frikha, Sameh Marzouk, Tahya Sellami Boudawara, Zouhir Bahloul","doi":"10.2478/rjim-2023-0028","DOIUrl":"10.2478/rjim-2023-0028","url":null,"abstract":"<p><strong>Introduction: </strong>Castleman's disease (CD), known as angiofollicular lymph node hyperplasia, is an uncommon condition. The two most common histological subtypes are hyaline vascular and plasma cell. We performed a retrospective analysis to define the clinic-pathological features and survival of CD, which is quite rare focusing on the particularities of our series with a review of the recent literature.</p><p><strong>Methods: </strong>This is a retrospective study conducted in the department of internal medicine of Hedi Chaker hospital in Sfax, Tunisia over 25 years. The disease was histologically confirmed in all patients. For each file, we collected a set of data by filling in a pre-designed form.</p><p><strong>Results: </strong>18 patients were included. There were 8 men and 10 women with a mean age of 42.8 years. CD was monocentric in 5 cases (28%) and multicentric in 13 cases (72%). Clinically, peripheral adenopathy was present in 77.7% of patients and deep adenopathy in 72.2%. Systemic signs were found in 13 patients, including general condition (4.4%), fever (16.6%), serositis (27.7%), and skin involvement (33.3%). A biological inflammatory syndrome accompanied the clinical picture in 66% of patients. Abnormalities in the blood count were found in 12 cases (66%), with anemia in 11 cases, thrombocytosis in 3 cases, and hypereosinophilia in 3 cases. Cutaneous Kaposi's sarcoma was associated with Castleman's disease in 2 cases, Hodgkin's lymphoma, angioimmunoblastic T-cell lymphoma, and lymph node T-cell lymphoma were found in 1 case respectively. 3 of the patients had associated connective tissue diseases such as Sjögren's syndrome in 2 cases and rheumatoid arthritis in 1 case. HHV8 serology was positive in 1 case with a multicentric plasma cell form. Histologically, the plasma cell form represented 50% of cases, hyaline-vascular (39% of cases), and mixed (11% of cases). Therapeutically, high-dose corticosteroid therapy was initiated in 13 cases. As a second-line treatment, MOPP chemotherapy was used in 1 case due to transformation into Hodgkin's lymphoma, and biotherapy (rituximab) was used in 2 cases in the multicentric form. Surgical removal of superficial adenopathy was performed in 2 patients with monocentric CD.</p><p><strong>Conclusion: </strong>: Castleman's disease (CD) is a non-malignant lymphoproliferation of localized or multicentric form with a wide and heterogeneous clinical spectrum. Diagnosis can be difficult due to the lack of clinical and radiological specificity. Management depends on the clinical form involving surgical and/or medical management.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"20-32"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72210621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MLPA in the initial genetic screening of patients with acute myeloid leukemia. MLPA在急性髓系白血病患者初步基因筛查中的应用。
IF 1.9
Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI: 10.2478/rjim-2023-0027
Dinnar Yahya, Mari Hachmeriyan, Tsanka Ruseva, Trifon Chervenkov, Ilina Micheva
{"title":"MLPA in the initial genetic screening of patients with acute myeloid leukemia.","authors":"Dinnar Yahya, Mari Hachmeriyan, Tsanka Ruseva, Trifon Chervenkov, Ilina Micheva","doi":"10.2478/rjim-2023-0027","DOIUrl":"10.2478/rjim-2023-0027","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to assess the effectiveness of multiplex ligase-dependent probe amplification (MLPA) in the initial genetic screening of patients with acute myeloid leukemia (AML) since current risk stratification and clinical management depend on molecular-genetic markers.</p><p><strong>Methods: </strong>We performed a prospective case-control study on newly diagnosed patients from the Clinical hematology clinic of UMHAT \"St. Marina\", Varna, for the period 02.2022 - 02.2023. MLPA - a semiquantitative PCR-based method, was implemented with probes for 40 AML/myelodysplastic syndrome-typical genetic changes. We compared these findings with a parallelly carried out cytogenetic analysis, part of the routine diagnostic process.</p><p><strong>Results: </strong>We assessed 61 patients - 29 females and 32 males, median age of 61 years for females and 65 for males (min-max 20-89). 34 (56%) of all showed pathological results, while the rest 27 (44%) did not. Of the 34, 22 (65%) had a single gene variant in genes NPM1, DNMT3A, FLT3, and IDH2, isolated or in combination. 18 (53%) of the same 34 also had copy number aberration (CNA) in chromosomes 4, 5, 6, 7, 11, 14, 17, and 21. The latter were either isolated or in combination with other findings. 8 of the 18 cases also underwent cytogenetic analysis, with concordance between the two methods in 4.</p><p><strong>Conclusion: </strong>MLPA is an informative method for initial genetic assessment in addition to cytogenetic analysis. Still, more patients are needed to draw finite conclusions on its eligibility for routine use. Given the significant percentage of normal results - 44%, simultaneous evaluation of more genetic markers, included in current guidelines, is reasonable.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"44-51"},"PeriodicalIF":1.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72210622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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