Romanian Journal of Internal Medicine最新文献

{"title":"Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.","authors":"Adriana Mursă, Sebastian Militaru, Elena Rusu, Sebastian Onciul, Gabriela Neculae, Robert Adam, Lucia Ciobotaru, Vlad Stefănescu, Adriana Dulămea, Viorica Rădoi, Bogdan Alexandru Popescu, Gener Ismail, Ruxandra Jurcuţ","doi":"10.2478/rjim-2024-0027","DOIUrl":"10.2478/rjim-2024-0027","url":null,"abstract":"<p><p>Fabry disease (FD) is an X-linked rare disorder caused by mutations in the GLA gene. Women with FD have been less enrolled in studies and less treated compared with men. The aim of the present study is to describe the complete phenotype of the women cohort with FD diagnosed and evaluated in Romania and compare it to the male population. This study included all consecutive patients diagnosed with FD referred to the Expert Center for Rare Genetic Cardiovascular Diseases between 2014-2023 which included 73 consecutive Romanian FD patients: 41 women (56.2%) and 32 men (43.8%) from 33 unrelated families. Women with FD were diagnosed later and had a later symptom onset. Comparing with men, women were less often symptomatic, but with similar symptom severity. They had similar ophthalmologic and ENT involvement, but less angiokeratomas. Both women and men had similar heart failure symptoms, which were usually mild to moderate, with no difference between the age of developing of the heart failure symptoms. There were also similar rates of acroparesthesia and stroke between sexes, but women presented less renal involvement, with less requirement for renal transplant. This study demonstrates that women with Fabry disease are not just carriers of the disease, they can present symptoms as severe as men, and they have less or later access to pathogenic therapy. Further studies with more female participations are needed to better understand the burden of Fabry disease in women.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"414-429"},"PeriodicalIF":1.6,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056382","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}

{"title":"Solitary extramedullary plasmacytoma of the lung with rapid transition to multiple myeloma : A rare case report and brief literature review.","authors":"Kevan English, Dianalyn De Leon, Sandra Kaldas","doi":"10.2478/rjim-2024-0026","DOIUrl":"10.2478/rjim-2024-0026","url":null,"abstract":"<p><strong>Introduction: </strong>Solitary extramedullary plasmacytomas (SEPs) are disease entities characterized by the local proliferation of neoplastic plasma cells, representing less than 6% of plasma cell tumors. They typically produce monoclonal immunoglobulin and are usually found in the head, neck, and, less commonly, in the lungs. SEP, in rare instances, can transition to multiple myeloma (MM) with an estimated risk between 8 and 31%.</p><p><strong>Case presentation: </strong>We report the case of a 72-year-old woman who sought medical attention at the emergency department due to acute onset dyspnea and syncope. Laboratory results revealed elevated creatinine, hypercalcemia, and anemia, all of which were absent at a hospitalization three months prior for tuberculosis. A chest x-ray showed a right upper lobe opacity, and a computed tomography (CT) scan demonstrated an apical lung mass with calcifications. A CT-guided needle aspiration of the mass indicated SEP. Bone marrow biopsy subsequently confirmed MM. The patient was admitted to the intensive care unit and treated with chemotherapy; however, following a complicated hospital course, she died.</p><p><strong>Discussion: </strong>SEPs are an exceedingly rare form of malignancy with the potential for conversion to MM. Although the likelihood of transformation to MM in months is rare, we call for attention to the possibility of such transition and the clinical prognosis of patients with SEP. Prompt and aggressive treatment is essential, and this, to our knowledge, is the first case of conversion to MM in less than four months following the initial diagnosis of SEP of the lung.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"440-445"},"PeriodicalIF":1.6,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056383","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}

{"title":"Early mortality in acute promyelocytic leukemia - a single center experience.","authors":"Andreea Spînu, Iuliana Iordan, Minodora Onisâi, Cristina Mambet, Raluca Nistor, Ana-Maria Vlădăreanu","doi":"10.2478/rjim-2024-0025","DOIUrl":"10.2478/rjim-2024-0025","url":null,"abstract":"","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"371-373"},"PeriodicalIF":1.6,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767217","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}

{"title":"The relationship of visceral adiposity with endothelial functions and subclinical atherosclerosis in obese individuals.","authors":"Merve Polat Kose, Mehmet Emin Piskinpasa, Yalcin Hacioglu, Turgut Karabag","doi":"10.2478/rjim-2024-0024","DOIUrl":"10.2478/rjim-2024-0024","url":null,"abstract":"<p><strong>Introduction: </strong>On the cardiovascular system, obesity accelerates atherosclerosis progression, inducing pathophysiological changes that are detectable already from young adults. Endothelial dysfunction is one of the earliest vascular alterations observed in obesity. In this study, we aimed to determine endothelial functions and carotid intima-media thickness in patients with obesity without overt cardiovascular disease.</p><p><strong>Methods: </strong>The study was conducted with 112 individuals with obesity without overt cardiovascular disease and any chronical diseases (BMI>30 kg/m²) (84 female, 28 male, mean age: 46.3±11.2 years) and 49 healthy individuals with no diseases (33 female, 16 male, mean age: 44.6±10.2 years). All patients were examined for endothelial functions by the flow-mediated dilatation (FMD) method and carotid intima-media thicknesses (CIMT). All measurements were performed by the same imaging specialist, averaging 3 different measurements. In addition to the body mass index and waist circumference visceral adiposity index (VAI) and triponderal mass index (TPI) also calculated.</p><p><strong>Results: </strong>The percentage of FMD obtained by brachial artery ultrasound was significantly lower, visceral adipose tissue, perirenal adipose tissue thicknesses measured by abdominal ultrasound and CIMT were significantly thicker in Group 1 compared to Group 2. FMD had a negative significant correlation with body mass index, visceral adipose tissue thickness, perirenal adipose tissue thickness, and waist and hip circumferences, and carotid intima-media thickness and CIMT had a significant correlation with visceral adipose tissue thickness, perirenal adipose tissue thickness, VAI, TPI and waist, hip circumferences.</p><p><strong>Conclusion: </strong>Individuals with obesity have impaired endothelial functions and greater carotid intima-media thicknesses compared to healthy individuals. This impairment in endothelial functions is proportional to the amount of visceral and perirenal fat accumulation. Parameterss reflecting visceral fat distribution such as VAI and TPI are also related with these impairment.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"404-413"},"PeriodicalIF":1.6,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141564235","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}

{"title":"Comparative Efficacy of Microwave versus Radiofrequency Ablation in Hepatocellular Carcinoma: Systematic Review and Meta-Analysis of Randomized-Controlled Trials.","authors":"Imelda Rey, Darmadi Darmadi","doi":"10.2478/rjim-2024-0022","DOIUrl":"10.2478/rjim-2024-0022","url":null,"abstract":"<p><p><b>Introduction</b>: Hepatocellular carcinoma (HCC) is a leading global cause of cancer-related deaths. Thermal ablation techniques, especially radiofrequency ablation (RFA) and microwave ablation (MWA), have become pivotal treatments for HCC. This systematic review and meta-analysis aim to compare these modalities, highlighting their efficacy, strengths, and limitations in treating HCC. <b>Methods</b>: A comprehensive literature search was conducted across major databases (PubMed, MEDLINE, Springer, ProQuest, EBSCOhost, Cochrane, and EMBASE) targeting studies on hepatocellular carcinoma with RFA and MWA. Heterogeneity analyses and pooled outcomes using random-effect models with were evaluated to compare both thermal ablation methods. <b>Results</b>: Nine studies, which consists of 368 patients underwent RFA and 387 patients underwent MWA, were included in review. The findings showed no significant differences in pooled analysis of volume of ablation, complete ablation rate, local tumor progression, survival rates, major complications, and adverse events. Subgroup analysis showed significantly higher risk of local tumor progression in RFA in African populations. <b>Conclusion</b>: No statistically significant difference was seen between outcomes across studies. MWA may offer a potential for longer therapeutic response with comparable risk of complications and adverse outcomes.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"374-386"},"PeriodicalIF":1.6,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141437437","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}

{"title":"Utilization of Probiotics in Relieving Post-Colonoscopy Gastrointestinal Symptoms: A Systematic Review and Meta-Analysis.","authors":"Virly Nanda Muzellina, Steven Alvianto, Nicolas Daniel Widjanarko","doi":"10.2478/rjim-2024-0023","DOIUrl":"10.2478/rjim-2024-0023","url":null,"abstract":"<p><strong>Introduction: </strong>Colonoscopy is regarded as a safe diagnostic and therapeutic procedure, nevertheless, some patients may still encounter post-colonoscopy gastrointestinal symptoms. This study aimed to evaluate the utilization of probiotics before and after colonoscopy to relieve those symptoms.</p><p><strong>Methodology: </strong>This study was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) 2020 guidelines. Included studies were all interventional studies examining the effects of probiotics use before and after colonoscopy. Articles were retrieved from MEDLINE, EBSCO-Host, Cochrane, ProQuest, and Google Scholar electronic databases, utilized specific keywords <i>(</i> <i>\"</i> <i>Probiotic</i> <i>\" OR \"</i> <i>Probiotics</i> <i>\"</i>) <i>AND</i> (<i>\"</i> <i>Colonoscopy</i> <i>\" OR \"</i> <i>Colonoscopies</i> <i>\"</i>). The Cochrane Risk of Bias (RoB) 2 and Joanna Briggs Institute (JBI) Critical Appraisal tools were used for study quality assessment, as well as Review Manager (RevMan) 5.4 to perform the meta-analysis.</p><p><strong>Results: </strong>A total of ten studies were included in this systematic review. Six studies assessed the effect of probiotics consumption after colonoscopy, three examined the impact before colonoscopy, and one study assessed both. The most common type of probiotics used were <i>Lactobacillus</i> and <i>Bifidobacterium</i>. Quantitative synthesis of probiotics before colonoscopy showed no significant differences among bloating, abdominal pain, nausea, and vomiting symptoms (p=0.49, p=0.14, p=0.30, and p=0.42, respectively). Similarly, quantitative synthesis of probiotics after colonoscopy showed no significant differences in bloating and abdominal pain (p=0.16 and p=0.63, respectively).</p><p><strong>Conclusions: </strong>Probiotic administration pre- and post-colonoscopy exhibited preliminary evidence for reducing gastrointestinal symptoms, but a quantitative synthesis revealed non-significant findings, necessitating further investigations.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"387-403"},"PeriodicalIF":1.6,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141420628","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}

{"title":"HIV and kidney transplantation in Romania: The index case.","authors":"Bogdan Marian Sorohan, Gener Ismail, Cristiana Oprea, Dorina Tacu, Ileana Constantinescu, Liliana Domnișor, Ionuț Manea, Ioanel Sinescu, Cătălin Baston","doi":"10.2478/rjim-2024-0020","DOIUrl":"10.2478/rjim-2024-0020","url":null,"abstract":"<p><strong>Introduction: </strong>Human immunodeficiency virus (HIV) is no longer considered a contraindication for kidney transplantation (KT). KT management in HIV patients is a complex process with challenges, such as drug interactions between immunosuppression and antiretroviral (ARV) therapy. In our country, no KT has been performed thus far in this category of patients.</p><p><strong>Case presentation: </strong>We present the case of a 29-year-old female patient with HIV and end-stage renal disease (ESRD) who performed a KT from a related living donor in March 2022. KT immediate evolution was favorable. No transplant-related complications were reported. HIV viral load remained undetectable and CD4+ T cells were constantly > 500 cell/ μL, during the 18 months of follow-up. The main challenge in our case was the drug interaction between the protease inhibitor-based regimen and tacrolimus. This led to tacrolimus overdose, and, subsequently, change in ARV therapy. ARV switching was performed on a regimen based on integrase inhibitor and nucleoside reverse transcriptase inhibitors. After the ARV change, the therapeutic level of tacrolimus was easily reached and maintained. Kidney graft function remained normal during follow-up, despite tacrolimus overexposure, and no rejection or anti-HLA antibodies were observed. Another challenge was related to the donor's hepatitis C virus status (positive antibodies, negative nucleic acid test). The recipient did not develop seroconversion or detectable viremia at 3-, 6-, 12- and 18-months post-KT.</p><p><strong>Conclusion: </strong>We reported the first case of a successful KT in an ESRD patient with HIV in Romania, in whom the post-transplant evolution was favorable.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":" ","pages":"362-368"},"PeriodicalIF":1.6,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141288527","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}

{"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}

{"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}

{"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}