What Radiologists Should Know About Normal Pressure Hydrocephalus

Background Normal pressure hydrocephalus is a disease in elderly patients and one of the most common causes of treatable dementia. It occurs frequently with microangiopathy and Alzheimer’s disease, so that differential diagnosis plays an important role. This is crucially determined by imaging findings. Therapy consists of cerebrospinal fluid drainage through a shunt, which should be performed as early as possible to improve the chances of success. Method This report is based on a summary of the relevant literature that has been reviewed in PubMed with reference to epidemiology, symptoms, pathophysiology, diagnostics, and therapy. The results were supplemented by the joint guidelines of the German Society of Neurology and the German Society of Neurosurgery. Results and Conclusion The understanding of the pathophysiologic changes leading to normal pressure hydrocephalus has expanded significantly in recent years to include concepts explaining relevant comorbidities. Diagnosis is based on radiological and clinical indicators, although accurate differentiation with respect to comorbidities is not always possible. A high response rate to treatment can be achieved by good patient selection. Positive prognostic markers for therapeutic success include Disproportionately Enlarged Subarachnoid Space Hydrocephalus (DESH), short disease duration, predominant gait disturbance, and few comorbidities. Key Points: Citation Format

Polymorphism in the HaeIII single nucleotide polymorphism of the SLC2A1 gene and cardiovascular disease in the early type 2 diabetes mellitus

Introduction: SLC2A1 polymorphism may play a role in the smooth muscle cell proliferation and extracellular matrix synthesis in vessels. However, the role of SLC2A1 polymorphism on diabetic cardiovascular disease (CVD) have not yet been identified. In this study, we aimed to investigate the association between SLC2A1 HaeIII polymorphism and CVD in Korean patients with type 2 diabetes mellitus (T2DM) according to disease duration. Methods: A total of 846 patients with T2DM who visited the Chungbuk National University Hospital were investigated. The HaeIII polymorphism of SLC2A1 gene was determined by real time polymerase chain reaction method. Genotyping results were presented GG, AG, or AA. Subgroup analysis was performed according to duration of T2DM (⩽10, 11–20, >20 years). Results: The AA genotype was significantly associated with higher prevalence of CVD in patients with DM duration less than 10 years (26.3% vs 9.2%, p = 0.014). There was no significant association between SLC2A1 HaeIII polymorphism and other diabetic complications including, retinopathy, nephropathy, neuropathy, cerebrovascular disease, and peripheral artery disease. Conclusions: The SLC2A1 HaeIII polymorphism was associated with CVD in Korean patients with T2DM with short disease duration.

POS1145 PREVALENCE OF CHONDROCALCINOSIS IN PATIENTS WITH INFLAMMATORY RHEUMATIC DISEASES – FREQUENTLY FOUND IN PATIENTS WITH RHEUMATOID ARTHRITIS AND VICE VERSA

Background:Calcium pyrophosphate deposition disease (CPPD), also known as pseudogout, is a prominent member of the crystal deposition diseases much like gout where urate crystals are the pathogens. CPPD is differentiated from chondrocalcinosis, a radiographic finding showing joint calcification, which may or may not be relevant for the clinical picture of patients (1).Objectives:To determine the prevalence of chondrocalcinosis in different inflammatory rheumatic diseases.Methods:In a retrospective cross-sectional study design we reviewed the records of not established new patients presenting to our center between 1.1.2016 and 31.12.2018. Based on the availability of radiographs of hands and feet, 514 patients were identified including 181 patients with CPPD, 273 with rheumatoid arthritis (RA), 143 seropositive (52.4%) and 130 seronegative, 30 with gout and 30 with polymyalgia rheumatica (PMR). Radiographs of hands and feet were available from all patients, of the knee in 376 cases. All images were read by two experienced readers with no access to clinical data.Results:Almost all patients had a short disease duration of < 1 year. In patients diagnosed with CPPD all radiographs showed chondrocalcinosis (93%) at some location, mostly in the hands. This was different in seronegative (36.5%) and seropositive (30.3%) RA. Chondrocalcinosis was found less frequently also in gout (18.8%) and PMR (12.5%). More data are shown in the Table 1. Radiographic chondrocalcinosis was present in more than one joint in 36.6% patients with CPPD, in 11.9% in seropositive and in 17.3% in seronegative RA. Patients with CPPD were older and had acute attacks more often than RA patients. While RA patients were more frequently on methotrexate (MTX), patients with CPPD were more often on colchicine.Table 1.Radiographic and clinical features of the examined patientsConclusion:There were a lot of similarities but also some important differences between patients with CPPD and RA with no major differences between seropositive and seronegative RA. Of interest, radiographic chondrocalcinosis was seen in more than a third of RA patients. Importantly, clinical symmetry of arthritis and involvement of hands did not differentiate between CPPD and RA, mainly the acuteness of attacks did. Co-occurrence of both diseases was frequently observed. There was no major difference between seropositive and seronegative RA.References:[1]Rosenthal AM, Ryan LM. N Engl J Med. 2016Disclosure of Interests:None declared.

Cerebrospinal Fluid and Blood Neurofilament Light Chain Protein in Prion Disease and Other Rapidly Progressive Dementias: Current State of the Art

Rapidly progressive dementia (RPD) is an umbrella term referring to several conditions causing a rapid neurological deterioration associated with cognitive decline and short disease duration. They comprise Creutzfeldt–Jakob disease (CJD), the archetypal RPD, rapidly progressive variants of the most common neurodegenerative dementias (NDs), and potentially treatable conditions such as infectious or autoimmune encephalitis and cerebrovascular disease. Given the significant clinical and, sometimes, neuroradiological overlap between these different disorders, biofluid markers also contribute significantly to the differential diagnosis. Among them, the neurofilament light chain protein (NfL) has attracted growing attention in recent years as a biofluid marker of neurodegeneration due to its sensitivity to axonal damage and the reliability of its measurement in both cerebrospinal fluid (CSF) and blood. Here, we summarize current knowledge regarding biological and clinical implications of NfL evaluation in biofluids across RPDs, emphasizing CJD, and other prion diseases. In the latter, NfL demonstrated a good diagnostic and prognostic accuracy and a potential value as a marker of proximity to clinical onset in pre-symptomatic PRNP mutation carriers. Similarly, in Alzheimer’s disease and other NDs, higher NfL concentrations seem to predict a faster disease progression. While increasing evidence indicates a potential clinical value of NfL in monitoring cerebrovascular disease, the association between NfL and prediction of outcome and/or disease activity in autoimmune encephalitis and infectious diseases has only been investigated in few cohorts and deserves confirmatory studies. In the era of precision medicine and evolving therapeutic options, CSF and blood NfL might aid the diagnostic and prognostic assessment of RPDs and the stratification and management of patients according to disease progression in clinical trials.

Vitiligo Skin Biomarkers Associated With Favorable Therapeutic Response

Vitiligo is an acquired depigmentation skin disease caused by immune-mediated death of melanocytes. The most common treatment for vitiligo is narrow band ultraviolet B phototherapy, which often is combined with topical therapies such as tacrolimus. However, patients’ responses to these treatments show large variations. To date, the mechanism for this heterogeneity is unknown, and there are no molecular indicators that can predict an individual patient’s response to therapy. The goal of this study is to identify clinical parameters and gene expression biomarkers associated with vitiligo response to therapy. Six patients with segmental vitiligo and 30 patients with non-segmental vitiligo underwent transcriptome sequencing of lesional and nonlesional skin at baseline before receiving combined UBUVB and tacrolimus therapy for 6 month, and were separated into good response and bad response groups based on target lesion achieving &gt; 10% repigmentation or not. Our study revealed that treatment-responsive vitiligo lesions had significantly shorter disease duration compared with non-responsive vitiligo lesions (2.5 years vs 11.5 years, p=0.046, t-Test), while showing no significant differences in the age, gender, ethnicity, vitiligo subtype, or disease severity. Transcriptomic analyses identified a panel of 68 genes separating the good response from bad response lesions including upregulation of immune active genes, such as CXCL10, FCRL3, and TCR, Further, compared with vitiligo lesions with long disease duration, the lesions with short duration also have much higher level of expression of immune-active genes, including some (such as FCRL3 and TCR genes) that are associated with favorable therapeutic response. In conclusion, our study has identified clinical parameters such as short disease duration and a panel of immune active and other gene expression biomarkers that are associated with favorable response to immune suppressive NBUVB + tacrolimus therapy. These markers may be useful clinically for individualized therapeutic management of vitiligo patients in the future.

Telemedicine during the Coronavirus Disease (COVID-19) Pandemic: A Multiple Sclerosis (MS) Outpatients Service Perspective

Background: During the COVID-19 pandemic, the need for a broader implementation of telemedicine for many diseases has become apparent. Televisits are one type of telemedicine in which clinical visits are conducted remotely using an audio-visual connection with the patient at home. The use of televisits is more established in Stroke care but was also recently formally evaluated for Multiple Sclerosis (MS). This retrospective case series describes patient characteristics and reasons for televisits in persons with MS during the COVID-19 pandemic outbreak in Italy, which was declared in February 2020. Methods: Recruitment occurred in a general hospital based MS clinic during Italy’s lockdown months period (9 March–18 May). Each subject completed at least one televisit. The baseline data included were demographics and MS history; reasons for the remote house calls were analyzed focusing on COVID-19 related needs. Results: Forty-six participants completed at least one study visit. The patients enrolled were more often females suffering from Relapsing Remitting Multiple Sclerosis (RRMS). Half of the patients had an intermediate level of education and lived within a 60 min drive from the clinic. These patients predominately had a short disease duration and were mostly involved in oral treatment. The main reasons for the call were drug use and counseling on social distancing. In 5 cases, COVID-19 infection was reported. Conclusions: Televisits during the COVID-19 outbreak demonstrated their utility as a care delivery method for MS. Hence, it is vital to facilitate the implementation of this technology in common practice to both face infectious threats and increase accessibility of the health care system.

Recurrent seizures in patients with focal epilepsy

Epilepsy is a chronic non-communicable disease of the brain that affects people of all ages. It is diagnosed in 2.4 million people annually. Epilepsy includes focal seizures that are more common than generalized ones. The incidence of focal epilepsy in the population reaches 0.5– 0.8%. Resistant types account for approximately 30% of all epilepsy forms, especially in patients with focal seizures. Thereby, the main task of epilepsy treatment is to control seizures. Patients with a newly diagnosed focal epilepsy in 55–68% of cases achieve long-term remission of seizures. Adding that, there is a spontaneous remission of untreated epilepsy considered a common event. The article gives the following negative prognostic factors: onset with seizure clusters, high disease duration, multiple treatment attempts, high frequency of seizures and incompetence, cognitive impairment. The article also presents the following treatment efficacy predictors of focal epilepsy: low frequency of seizures, short disease duration, pathological activity absence on the EEG, isolated generalized seizures. Predictors of recurrent seizures include pathological changes on the EEG, family history of seizures, established etiology of seizures and nocturnal seizures. KEYWORDS: epilepsy, relapses, predictors, factors, prognosis, remission, treatment, efficacy. FOR CITATION: Sandu E.A., Firsov K.V., Frolova V.M., Kotov A.S. Recurrent seizures in patients with focal epilepsy. Russian Medical Inquiry. 2021;5(10):654–658 (in Russ.). DOI: 10.32364/2587-6821-2021-5-10-654-658.

Systemic lupus erythematosus-related acute pancreatitis

Introduction Systemic lupus erythematosus (SLE) is a complex autoimmune pathology that can involve any organ. Lupus-related acute pancreatitis (AP) is, together with lupus mesenteric vasculitis, an important cause of SLE-induced acute abdominal pain. Methods A literature search was conducted using the terms “Pancreatitis” and “Lupus Erythematosus, Systemic” on PubMed/Medline and Web of Science from January 2007 to January 2020. Clinical characteristics, diagnostic approach, and treatment principles in SLE-related AP are presented in this review. Results Mainly retrospective reports were identified. The reported incidence of SLE-associated AP ranges from 0.9 to more than 5% of patients. A total of 264 SLE patients were found in the selected research, with a net female predominance (sex ratio 9:1) and mean age of 31.4 years. Abdominal pain was virtually present in all cases. AP occurrence was more frequent in SLE patients with short disease duration, high activity scores, and multiorgan involvement. The AP definition was based on currently available guidelines and after exclusion of any other known causes (including iatrogenic, i.e. drugs), a diagnosis of “idiopathic” SLE-related AP might be sustained. Management is difficult, as there is no standardized therapeutic approach. Of note, glucocorticoid use remains still controversial as, especially for high doses, subsequent pancreatic injury may occur. Monitoring serum lipase levels after high dose steroids might be considered. One study reported beneficial prognostic effect of plasma exchange. Moreover, AP in SLE might raise awareness about macrophage activation syndrome association. Mortality up to one third of AP cases in SLE was reported. Conclusion The SLE-related AP is a rare, but severe, life-threatening complication. Corticosteroids must be used with caution. Plasma exchange could be considered in selected cases.

PP164 Prescribed Medication Use, Complications, And Cost of Type 2 Diabetes Mellitus In The Real World

IntroductionType 2 diabetes mellitus (T2DM) is one of the major diseases threatening the health of Chinese residents. Insufficient glycemic control results in inevitable and sometimes irreversible complications. The condition can be more complicated for patients with comorbidities. To maintain appropriate glycemic control, patients may need to add or switch to different classes of drugs as the disease progresses. The complicated drug treatment for diabetes poses a high risk for drug-drug interactions and challenges patient compliance, which is the most important factor affecting the ability to achieve glycemic control. In addition, T2DM is a life-long disease that is associated with a heavy economic burden for patients’ families and for society. Therefore, this paper aims to characterize the complexity of prescribed medications used to treat T2DM and to assess the trends in the number of complications, medications used, and costs incurred among these patients.MethodsData were retrieved from two tertiary hospitals. The population consisted of patients receiving at least one diagnosis of diabetes (International Classification of Diseases-10 codes: E11, E12, E13, and E14) between October 2007 and May 2017. Three measures were assessed, including the number of patients with different complications, concomitant drug use, and costs. Patients with a short disease duration (< 5 years) were compared with patients who had a longer disease duration (≥ 5 years).ResultsOf 31,071 patients, about half of those with a longer disease duration had at least five concomitant diseases, compared with nine percent of patients with a shorter disease duration. The maximum number of concomitant diseases was nine for both disease duration groups. Patients with longer disease duration were more likely to use multiple classes of drugs, compared with patients in the short disease duration group. The average annual medical costs for patients without concomitant disease was CNY 1,894 (USD 265).ConclusionsOverall, the results demonstrated that T2DM is a relatively complex disease. Firstly, patients have up to nine concomitant diseases and use twenty-two classes of drugs. Secondly, patients with more complications tended to use more medications. Thirdly, patients with a longer disease duration tend to have a higher number of concomitant diseases, use more classes of drugs, and have higher medical costs than patients with a shorter disease duration.