Romanian Journal of Internal Medicine最新文献

Introduction: Patients with chronic inflammatory rheumatic diseases (CIRD) who receive intravenous therapy requiring hospitalization are likely to be more affected than those with receiving oral therapy during COVID-19 pandemic. We aimed to investigate the effect of the COVID-19 pandemic on adherence to treatment in patients with CIRD receiving intravenous treatments. Methods: We evaluated patients with CIRD who were treated with intravenous immunosuppressive therapy such as rituximab (RTX), cyclophosphamide (CTX), infliximab (IFX), tocilizumab (TCZ) and abatacept (ABA) in our inpatient rheumatology clinic. The patients' medical treatment compliance and clinical follow-up were evaluated. Treatment discontinuation was decided according to postponement of at least one dose and discontinuation of CIRD treatments. Demographics and clinical characteristics were compared between treatment-incompliant (TI) and treatment-compliant (TC) groups. Results: A total of 181 CIRD patients were enrolled. Rheumatoid arthritis was the most common disease requiring intravenous immunosuppressive treatment followed by axial spondyloarthritis and Behçet's disease. Joint involvement was the most common followed by lung and kidney involvements. Rituximab was the most widely used intravenous immunosuppressive treatment for the CIRD. 34% patients have postponed at least one dose of their intravenous CIRD treatment and 25% discontinued. Fear of COVID-19 and SARS-CoV-2 positivity were the most common reasons. The TI group had a longer disease duration and a higher frequency of inflammatory arthritis than the TC group (p=0.013 and p=0.044, respectively). Conclusions: Fear of COVID-19 and SARS-CoV-2 positivity seemed to be the major reasons for discontinuing/postponing intravenous treatments in CIRD patients. Patients with long disease duration and less systemic involvement may be more prone to discontinuing their treatments.

Introduction: The microRNA-326 (miR-326) gene, by targeting ETS Proto-Oncogene 1 (ETS1), regulates the differentiation and interleukin-17A production of T helper 17 (Th17) cells. Celiac disease (CD) is an intestinal autoimmune disorder, in which the cascade of Th17 cells plays an important role in its pathogenicity. The aim of this study was to evaluate the expression changes of miR-326 and its two target genes ETS1 and IL-17A in celiac disease patients under a gluten-free diet (GFD). We expected the expression of miR-326 and IL-17A gene to decrease, and the expression of the ETS1 gene to increase, following the adherence to GFD. Methods: Peripheral blood samples of 40 CD patients under GFD (for more than 1 year) and 40 healthy individuals were collected. RNA was extracted, cDNA was synthesized and the miR-326, ETS1 and IL-17A gene expressions were evaluated by the quantitative polymerase real-time qPCR method. P-value ˂ 0.05 was considered statistically significant. Results: Although miR-326 mRNA expression was significantly lower in CD patients (P = 0.001), no significant difference was observed in ETS1 mRNA level between the two groups (P = 0.54), but IL-17A was significantly overexpressed in CD patients (P=0.002). No significant correlation was observed between the expression of the studied genes and the patients' symptoms and Marsh classification. Conclusion:Adherence to the GFD for one to two years did not have the expected effect on the expression of genes in this panel. The most important finding that contradicted our hypothesis was the observation of high IL-17A levels in CD patients despite dieting, which may be related to the protective effect of this cytokine on intestinal tight junctions, which needs to be confirmed in further studies.

Introduction: 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.Case presentation: 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.Conclusion: 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.

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.

Objective: 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.Materials and methods: Case report.Results: 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.Conclusion: This is the third reported case of concomitant sarcoidosis and solid pseudopapillary tumor of the pancreas.

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.

Background: 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.Methods: 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.Results: 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).Conclusion: 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.

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.

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.