Romanian Journal of Internal Medicine最新文献

{"title":"Autoimmune polyglandular syndrome type II presenting as subacute combined degeneration of spinal cord: a neuroendocrinology crossroad.","authors":"Prateek Bapat,&nbsp;Suman Kushwaha,&nbsp;Chirag Gupta,&nbsp;R Kirangowda,&nbsp;Vaibhav Seth","doi":"10.2478/rjim-2021-0038","DOIUrl":"https://doi.org/10.2478/rjim-2021-0038","url":null,"abstract":"<p><p><b>Introduction:</b> Autoimmune polyglandular syndrome (APS) is a condition having multiple endocrine abnormalities. It is divided into three types depending on the involvement of various endocrinopathies. It is also associated with other systemic involvement. The basic pathophysiology of this syndrome revolves around autoimmunity.<b>Case presentation:</b> We discuss the case of a 50-year-old gentleman who presented to us in emergency with subacute onset progressive weakness of both lower limbs followed by upper limbs. On examination, patient was confused and disoriented. General examination findings include hypotension, pallor, facial puffiness and vitiligo. Neurological examination revealed spasticity and motor weakness in all four limbs with extensor planter response. Sensory examination during hospital course revealed posterior column involvement. Laboratory and radiological investigations confirmed subacute combined degeneration of spinal cord secondary to pernicious anaemia, Addison's disease and autoimmune thyroid disease. The final diagnosis of autoimmune polyglandular syndrome type II was made after fulfilment of the required criteria.<b>Conclusion:</b> Autoimmune polyglandular syndrome type II can rarely present to neurologist as subacute combined degeneration of spinal cord. This syndrome and its systemic association should be kept in mind in order to reach the final diagnosis.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"123-126"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39765127","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":"Systematic approach to celiac disease: a comprehensive review for primary providers.","authors":"Pedro Cortés,&nbsp;Dana M Harris,&nbsp;Yan Bi","doi":"10.2478/rjim-2022-0002","DOIUrl":"https://doi.org/10.2478/rjim-2022-0002","url":null,"abstract":"<p><p>Celiac disease is an immune-mediated illness to gluten exposure in genetically susceptible patients. It is characterized by chronic lymphocytic inflammation of the small bowel leading to villous atrophy and its associated complications. The global prevalence of celiac disease is increasing, due in part to improved screening tests and simplified diagnostic criteria. Novel therapies are being developed and include proteolytic enzymes, sequestering agents, and immunotherapies. A strict gluten-free diet, however, remains the mainstay of treatment. In this comprehensive review, we discuss the epidemiology, definitions, diagnosis, and treatment of celiac disease.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"93-102"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39869112","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":"Peculiar encounter of sarcoidosis and solid pseudopapillary tumor of the pancreas.","authors":"Claudia Cobilinschi,&nbsp;Cristian Cobilinschi,&nbsp;Iuliana Trifan,&nbsp;Constantin-Ioan Busuioc,&nbsp;Ruxandra Ionescu,&nbsp;Daniela Opriş-Belinski","doi":"10.2478/rjim-2022-0001","DOIUrl":"https://doi.org/10.2478/rjim-2022-0001","url":null,"abstract":"<p><p><b>Objective:</b> Current literature indicates a connection between sarcoidosis and malignancy, prompting advanced screening in uncertain cases. Solid pseudopapillary tumors (SPT) of the pancreas are rare entities that can be confirmed by adding imaging results to immunohistochemistry staining. The aim of this article is to describe a rare association of sarcoidosis and SPT.<b>Materials and methods:</b> Case report.<b>Results</b>: A young female patient with no prior medical history presents with shortness of breath and fatigue. The diagnosis of pulmonary and hepatic sarcoidosis is placed upon laboratory and radiographic changes. Intermittent abdominal pain prompts an MRI that shows the presence of a tumoral mass in the tail of the pancreas. Surgical resection of the mass is performed and histological examination indicates a SPT, subsequently confirmed by immunohistochemistry.<b>Conclusion:</b> This is the third reported case of concomitant sarcoidosis and solid pseudopapillary tumor of the pancreas.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"132-137"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39855096","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":"Anti-cyclic citrullinated peptide antibody-positive rheumatoid arthritis caused by bacterial organizing pneumonia in a patient with Sjogren's syndrome.","authors":"Taro Horino,&nbsp;Mitsuharu Yoshida,&nbsp;Satoshi Inotani,&nbsp;Kazuki Anabuki,&nbsp;Hiroshi Ohnishi,&nbsp;Masahiro Komori,&nbsp;Osamu Ichii,&nbsp;Yoshio Terada","doi":"10.2478/rjim-2022-0003","DOIUrl":"https://doi.org/10.2478/rjim-2022-0003","url":null,"abstract":"<p><p>A 58-year-old woman with a history of Sjogren's syndrome was admitted to our hospital with cough, decreased right lung breath sounds and arthralgia in both thumbs. Chest computed tomography showed consolidation with air bronchogram in the right lung. Levels of anti-cyclic citrullinated peptide antibody and rheumatoid factor levels were significantly elevated. She was diagnosed with rheumatoid arthritis induced by bacterial organizing pneumonia. Treatment with salazosulfapyridine was added for rheumatoid arthritis and arthralgia gradually improved. This case highlights that respiratory infections could lead to anti-cyclic citrullinated peptide antibody-positive rheumatoid arthritis in patients with Sjogren's syndrome.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"127-131"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39869114","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":"Serum uric acid as a predictor of cardio- and cerebro-vascular diseases in maintenance hemodialysis patients.","authors":"Najmeh Khodabandeh,&nbsp;Elahe Taziki,&nbsp;Toktam Alirezaei","doi":"10.2478/rjim-2021-0039","DOIUrl":"https://doi.org/10.2478/rjim-2021-0039","url":null,"abstract":"<p><p><b>Background:</b> Hyperuricemia is associated with an increased risk of cardio-and cerebrovascular disease (CVD) in general population. However, in the hemodialysis (HD) patients, low serum uric acid (SUA) increases the risk of mortality. Considering that CVD is the principal cause of death among maintenance HD patients, the present study aimed to determine the predictive value of SUA for CVD outcome in this population.<b>Methods:</b> In this two-year follow-up prospective study, 205 outpatients under maintenance HD were enrolled from March 2017 to 2020. Patients' demographic data, underlying diseases, and the results of serum tests, as well as two-year follow-up results of CVD events and mortality were recorded.<b>Results:</b> A total of 130 (63%) patients were eligible for analysis; 62.9% were male; mean age of participants was 59±13years. At follow-up, coronary artery disease was observed in 43.2%, peripheral artery disease in 26.5%, and cerebrovascular disease in 20.5%; angiography was required in 52.3% and 4.5% died of CVD. SUA was ≤5.4 mg/dL in 52 patients, 5.5-6.1 mg/dL in 19, and ≥6.2 mg/dL in 59 patients with significant difference based on mean age, sex distribution, occurrence of cerebrovascular disease and cardiovascular mortality (P<0.05). Patients with cerebrovascular disease had a significantly lower SUA levels (P=0.006). Logistic regression showed the significant effect of SUA on the occurrence of cerebrovascular disease (P=0.008).<b>Conclusion:</b> Low SUA can predict two-year incidence of cerebrovascular disease in HD patients. However, SUA levels did not show significant predictive effect on two-year coronary events, peripheral artery disease and cardiovascular mortality.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"115-122"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39672670","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":"COVID-19: a trigger for severe thrombotic microangiopathy in a patient with complement gene variant.","authors":"Larisa Pinte,&nbsp;Bogdan Marian Sorohan,&nbsp;Zoltán Prohászka,&nbsp;Mihaela Gherghiceanu,&nbsp;Cristian Băicuş","doi":"10.2478/rjim-2021-0040","DOIUrl":"https://doi.org/10.2478/rjim-2021-0040","url":null,"abstract":"<p><p>The evidence regarding thrombotic microangiopathy (TMA) related to Coronavirus Infectious Disease 2019 (COVID-19) in patients with complement gene mutations as a cause of acute kidney injury (AKI) are limited. We presented the case of a 23-year-old male patient admitted with an asymptomatic form of COVID-19, but with uncontrolled hypertension and AKI. Kidney biopsy showed severe lesions of TMA. In evolution patient had persistent microangiopathic hemolytic anemia, decreased level of haptoglobin and increased LDH level. Decreased complement C3 level and the presence of schistocytes were found for the first time after biopsy. Kidney function progressively decreased and the patient remained hemodialysis dependent. Complement work-up showed a heterozygous variant with unknown significance in complement factor I (CFI) c.-13G>A, affecting the 5' UTR region of the gene. In addition, the patient was found to be heterozygous for the complement factor H (CFH) H3 haplotype (involving the rare alleles of c.-331C>T, Q672Q and E936D polymorphisms) reported as a risk factor of atypical hemolytic uremic syndrome. This case of AKI associated with severe TMA and secondary hemolytic uremic syndrome highlights the importance of genetic risk modifiers in the alternative pathway dysregulation of the complement in the setting of COVID-19, even in asymptomatic forms.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"138-142"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39672671","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":"Acute myelogenous leukemia - current recommendations and approaches in molecular-genetic assessment.","authors":"Dinnar Yahya,&nbsp;Mari Hachmeriyan,&nbsp;Ilina Micheva,&nbsp;Trifon Chervenkov","doi":"10.2478/rjim-2022-0004","DOIUrl":"https://doi.org/10.2478/rjim-2022-0004","url":null,"abstract":"<p><p>Acute myelogenous leukemia is a multi-step hematological malignancy, affecting function, growth, proliferation and cell cycle of myeloid precursors. Overall assessment of patients with the disease requires among everything else, a comprehensive investigation of the genetic basis through various methods such as cytogenetic and molecular-genetic ones. This clarification provides diagnostic refinement and carries prognostic and predictive value in respect of essential therapeutic choices.With this review of the literature, we focus on summarizing the latest recommendations and preferred genetic methods, as well as on emphasizing on their general benefits and limitations. Since none of these methods is actually totipotent, we also aim to shed light over the often-difficult choice of appropriate genetic analyses.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"103-114"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39633418","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":"Stroke risk scores for prediction of mortality and hemorrhages in atrial fibrillation patients","authors":"A. Ivănescu, C. Delcea, G. Dan","doi":"10.2478/rjim-2022-0009","DOIUrl":"https://doi.org/10.2478/rjim-2022-0009","url":null,"abstract":"Abstract Background: Atrial fibrillation (AF) is an emerging epidemic worldwide, responsible for a twofold increase in mortality, independent of other risk factors. Stroke prevention is the cornerstone of AF management. However, oral anticoagulation imposes an increased risk of bleeding. Several risk scores have been developed for estimating both the thromboembolic and the bleeding risks. The aim of the study was to determine the usefulness of different stroke risk scores as predictors of mortality and hemorrhagic events in AF patients. Methods: We retrospectively enrolled 211 AF patients hospitalized in the Cardiology Ward of our tertiary hospital. The primary endpoints were mortality and non-minor bleeding events. The mean follow-up period was 378 days for bleeding events and 5 years and 1 month for mortality. For each patient, we evaluated the following stroke risk scores: CHADS2, CHA2DS2-VASc, R2CHADS2, ABC, ATRIA, GARFIELD. Results: The mean age in our cohort is 66, with a slight predominance of women (52.2%). For a CHA2DS2-VASc ≥ 4 as well as for a score of 2-3, 5-year survival was worse than for patients with a score of 0–1(chi-squared=8.13; p=0.01). Similarly, all subgroups of patients with an ABC <2%, had a worse 5-year survival when compared with an ABC score of ≥2% (chi-squared=12.85; p=0.005). C-statistics show a modest predictive value for mortality, for all stroke scores except Garfield, with similar AUCs, the highest being for CHA2DS2-VASc (AUC 0.656; p=0.0001). CHA2DS2-VASc also correlates with bleeding events, having a good predictive ability (AUC 0.723; 95%CI 0.658–0.782, p=0.001), mildly superior to HAS-BLED (AUC 0.674; 95% CI 0.523–0.825; p = 0.04) and very close to Garfield-bleeding (0.765; 95%CI 0.702–0.80; p=0.0001). Conclusions: CHA2DS2-VASc is comparable to HAS-BLED and Garfield-bleeding in predicting bleeding events in AF patients. CHA2DS2-VASc and ABC correlate directly and consistently with mortality rate. For CHA2DS2-VASc, the AUCs for our endpoints are similar to the ones for stroke prediction, highlighting the potential of extending its applicability to various outcomes.","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"7 1","pages":"182 - 192"},"PeriodicalIF":1.9,"publicationDate":"2022-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82059142","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":"Lung cancer and combined pulmonary fibrosis and emphysema with anti-ARS antibody","authors":"Riho Tanimura, Kengo Nishino, Ryosuke Iwade, Ryo Abe, S. Okauchi, Y. Sasatani, H. Satoh","doi":"10.2478/rjim-2022-0008","DOIUrl":"https://doi.org/10.2478/rjim-2022-0008","url":null,"abstract":"Abstract A 59-year-old man who had smoked for 23 pack-years was admitted to our hospital because of two-month history of back pain. The chest computed tomography scan demonstrated combined pulmonary fibrosis and emphysema (CPFE) and an irregular shaped nodule in the left lower lobe of the lung. A biopsy obtained from samples from subcarinal lymph nodes revealed non-small cell lung cancer. Anti-aminoacyl-tRNA synthetase (ARS) antibody was elevated up to 166 U/mL, although he had no symptoms suggestive connective tissue diseases. It is well known that most of CPFE patients are current or former heavy smokers, and some researchers described the relationship between CPFE and connective tissue diseases. To our best knowledge, this was the first report of lung cancer in patient with anti-ARS antibody-positive CPFE. In some anti-ARS antibody-positive patients, smoking might have a relationship with development of CPFE and lung cancer.","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"24 1","pages":"193 - 196"},"PeriodicalIF":1.9,"publicationDate":"2022-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81971156","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":"A pilot study of changes in urinary podocalyxin levels during normal pregnancy and labor","authors":"Ylbe Palacios de Franco, N. Segovia, Ylbe Franco Marx, Rudiona Hoxhaj, Carlos Franco Palacios","doi":"10.2478/rjim-2022-0007","DOIUrl":"https://doi.org/10.2478/rjim-2022-0007","url":null,"abstract":"Abstract Introduction: Increased urinary podocalyxin, a surrogate marker of podocyte detachment, has been shown in preeclampsia and eclampsia, but there is a paucity of data of the effect of normal pregnancy on its urinary excretion. We aimed to describe these changes in this pilot study. Methods: Urine podocalyxin levels were measured in 115 pregnant women. Of these, 12 women were in the second trimester of gestation, 57 in the third trimester and 46 women were in labor. Results: The median [IQR] urinary podocalyxin levels were 0.81 [0.27, 3.68], 0.92 [0.44, 5.49] and 64.7 [30.5, 106.3] ng/mg creatinine in the second trimester, third trimester, and during labor, respectively (p<0.0001). Patients with hematuria during labor had higher levels of urinary podocalyxin (128.6 [79.8, 169.6] ng/mg creatinine. There was a moderate correlation between gestational age and urinary podocalyxin levels (r=0.63, p<0.0001). Conclusion: Urinary podocalyxin levels were low in normal pregnancies and increased significantly during labor and with hematuria.","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"68 1","pages":"160 - 165"},"PeriodicalIF":1.9,"publicationDate":"2022-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85313770","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}