scholarly journals Molecular Chaperones and miRNAs in Epilepsy: Pathogenic Implications and Therapeutic Prospects

2021 ◽  
Vol 22 (16) ◽  
pp. 8601
Author(s):  
Leila Zummo ◽  
Alessandra Maria Vitale ◽  
Celeste Caruso Bavisotto ◽  
Marco De Curtis ◽  
Rita Garbelli ◽  
...  

Epilepsy is a pathologic condition with high prevalence and devastating consequences for the patient and its entourage. Means for accurate diagnosis of type, patient monitoring for predicting seizures and follow up, and efficacious treatment are desperately needed. To improve this adverse outcome, miRNAs and the chaperone system (CS) are promising targets to understand pathogenic mechanisms and for developing theranostics applications. miRNAs implicated in conditions known or suspected to favor seizures such as neuroinflammation, to promote epileptic tolerance and neuronal survival, to regulate seizures, and others showing variations in expression levels related to seizures are promising candidates as useful biomarkers for diagnosis and patient monitoring, and as targets for developing novel therapies. Components of the CS are also promising as biomarkers and as therapeutic targets, since they participate in epileptogenic pathways and in cytoprotective mechanisms in various epileptogenic brain areas, even if what they do and how is not yet clear. The data in this review should help in the identification of molecular targets among the discussed miRNAs and CS components for research aiming at understanding epileptogenic mechanisms and, subsequently, develop means for predicting/preventing seizures and treating the disease.

Cephalalgia ◽  
2008 ◽  
Vol 28 (2_suppl) ◽  
pp. 9-13 ◽  
Author(s):  
A Ducros

During the past few years, several surveys have highlighted the high prevalence of migraine amongst the general French population and the large healthcare burden associated with suboptimal treatment. Since it opened, the Centre d'Urgences Céphalées (EHC) has treated more than 55 000 patients, the majority of whom were suffering from migraine. Expert diagnosis of the type and causes of the headache, followed by immediate medication, allows patient stabilization. Detailed assessments can then determine the most appropriate treatment for each patient to improve outcomes and reduce the necessity for further emergency admissions. Triptans are generally recommended, and for those patients who currently have ineffective migraine control with one triptan, individual evaluation allows prescription of an alternative triptan which will better suit their needs. Follow-up is crucial to ensure that treatment remains optimal and that patient expectations are being met. Although a minority of patients with severe headache will continue to require repeated emergency treatment, more than 90% of patients seen at the EHC can be successfully managed with this combination of accurate diagnosis, effective treatment and individualized follow-up care.


2019 ◽  
Vol 21 (10) ◽  
pp. 798-800 ◽  
Author(s):  
Zhijun Zhang ◽  
Qinghong Ke ◽  
Weiliang Xia ◽  
Xiuming Zhang ◽  
Yan Shen ◽  
...  

Background: Hemolymphangioma is a rare benign tumor. To the best of our knowledge, there were only 10 reports of this tumor of the pancreas until March 2018. Case Report: Here, we reported a large invasive hemolymphangioma of the pancreas in a young woman with a complaint of abdominal distension and an epigastric mass about 3 weeks. She was found to have a huge multilocular cystic tumor at the neck and body of pancreas on computed tomography. She was eventually diagnosed with hemolymphangioma of the pancreas after operation. After 2 years of follow-up, there was no signs of recurrence. Conclusion: From our case and literature, we can conclude that hemolymphangioma of the pancreas is uncommon benign tumor, and it is hard to make an accurate diagnosis preoperatively. Radical surgical resection should be performed whenever possible. The prognosis of this disease seems good.


2021 ◽  
Vol 10 (6) ◽  
pp. 1314
Author(s):  
Rebeca Lorca ◽  
Isaac Pascual ◽  
Andrea Aparicio ◽  
Alejandro Junco-Vicente ◽  
Rut Alvarez-Velasco ◽  
...  

Background: Coronary artery disease (CAD) is the most frequent cause of ST-segment elevation myocardial infarction (STEMI). Etiopathogenic and prognostic characteristics in young patients may differ from older patients and young women may present worse outcomes than men. We aimed to evaluate the clinical characteristics and prognosis of men and women with premature STEMI. Methods: A total 1404 consecutive patients were referred to our institution for emergency cardiac catheterization due to STEMI suspicion (1 January 2014–31 December 2018). Patients with confirmed premature (<55 years old in men and <60 in women) STEMI (366 patients, 83% men and 17% women) were included (359 atherothrombotic and 7 spontaneous coronary artery dissection (SCAD)). Results: Premature STEMI patients had a high prevalence of classical cardiovascular risk factors. Mean follow-up was 4.1 years (±1.75 SD). Mortality rates, re-hospitalization, and hospital stay showed no significant differences between sexes. More than 10% of women with premature STEMI suffered SCAD. There were no significant differences between sexes, neither among cholesterol levels nor in hypolipemiant therapy. The global survival rates were similar to that expected in the general population of the same sex and age in our region with a significantly higher excess of mortality at 6 years among men compared with the general population. Conclusion: Our results showed a high incidence of cardiovascular risk factors, a high prevalence of SCAD among young women, and a generally good prognosis after standardized treatment. During follow-up, 23% suffered a major cardiovascular event (MACE), without significant differences between sexes and observed survival at 1, 3, and 6 years of follow-up was 96.57% (95% CI 94.04–98.04), 95.64% (95% CI 92.87–97.35), and 94.5% (95% CI 91.12–97.66). An extra effort to prevent/delay STEMI should be invested focusing on smoking avoidance and optimal hypolipemiant treatment both in primary and secondary prevention.


2021 ◽  
Vol 28 (4) ◽  
pp. 2789-2800
Author(s):  
Stephanie Lelond ◽  
Julie Ward ◽  
Pascal J. Lambert ◽  
Christina A. Kim

Patients with advanced pancreatic cancer (APC) experience many disease-related symptoms. ESAS-r measures the severity of 9 symptom domains and has been validated for use in the ambulatory oncology setting. We aimed to describe symptom burden at baseline for patients with APC treated with modern chemotherapy (CT), and to determine whether symptom burden at baseline is prognostic. Patients diagnosed with APC between 2012–2016, treated with ≥1 cycle of CT, who completed ≥1 ESAS-r were identified. Descriptive statistics were used to report symptom burden and common moderate-to-severe symptoms. A joint model was used to describe the trajectory of ESAS-r during follow-up while controlling for death. Multivariable Cox regression was used to identify independent predictors of death. Of 123 patients identified, the median age was 65 and 61% had metastatic disease. The median baseline ESAS-r total symptom distress score (TSDS) was 24. A total of 86% of patients had at least one symptom score of ≥4 at baseline, with the most common being: fatigue, nausea, anxiety, and shortness of breath. Median overall survival was 10.2 months. Baseline TSDS was not predictive for worse survival in the era of modern CT. Patients with APC have a high burden of cancer-associated symptoms and a high prevalence of moderate-to-severe symptoms. Early intervention has the potential to improve quality of life in this group of patients and should be investigated.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.


2012 ◽  
Vol 63 (3) ◽  
pp. 215-221 ◽  
Author(s):  
Dellano D. Fernandes ◽  
Ram Prakash Galwa ◽  
Najla Fasih ◽  
Margaret Fraser-Hill

Small bowel malignancies are rare neoplasms, usually inaccessible to conventional endoscopy but detectable in many cases by cross-sectional imaging. Modern multidetector computed tomographies permit accurate diagnosis, complete pretreatment staging, and follow-up of these lesions. In this review, we describe the cross-sectional imaging features of the most frequent histologic subtypes of the small bowel malignancies.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Mauricio Sanabria ◽  
Cesar Mauricio Doria ◽  
Edward Martinez ◽  
Carlos Simon ◽  
Jasmin Vesga ◽  
...  

Abstract Background and Aims Fatigue is a symptom with a high prevalence in patients on hemodialysis therapy due to uremic toxins, anemia, associated comorbidity, and hemodialysis treatment per se. Our objective is to evaluate the prevalence of fatigue reported by patients and their association with the nutritional status. Method This was a prospective observational, multicenter cohort study. Prevalent patients on HD therapy for at least 90 days, older than 18, at the Baxter Renal Care Services were included between September 1, 2017, to November 30, 2017 with one-year follow-up. Socio-demographic and clinical characteristics of all patients were summarized descriptively, the nutritional status was evaluated by protein Energy waste (PEW). Patient reported fatigue was measured with high flux membrane and medium cut-off membrane (Theranova). A generalized linear binomial multivariable model was conducted to assess the effect of PEW on fatigue symptom controlling for some confounding variables. Results We found that the fatigue reported by the patients has a prevalence of 55% [95% CI: 52.2 to 57.7] in our population, there are no statistical differences due to the use of different types of membranes p= 0.911, and neither did we find that the nutritional status is an independent factor that explains this symptom. If we find that women and diabetics have a higher risk of fatigue; RR=1.17 [95% CI: 1.06 to 1.29] and RR= 1.19 [95% CI: 1.00 to 1.42] respectively. Conclusion The fatigue is a prevalent symptom in the chronic hemodialysis population; being a woman and the diagnosis of diabetes are risk factors associated with this outcome. PEW and the type of dialysis membrane used were not associated with this symptom. Studies evaluating the recovery time from post-dialysis symptoms and its relationship with the type of membrane are necessary.


BMJ Open ◽  
2019 ◽  
Vol 9 (9) ◽  
pp. e031169 ◽  
Author(s):  
Marvin Gonzalez-Quiroz ◽  
Dorothea Nitsch ◽  
Sophie Hamilton ◽  
Cristina O'Callaghan Gordo ◽  
Rajiv Saran ◽  
...  

IntroductionA recently recognised form of chronic kidney disease (CKD) of unknown origin (CKDu) is afflicting communities, mostly in rural areas in several regions of the world. Prevalence studies are being conducted in a number of countries, using a standardised protocol, to estimate the distribution of estimated glomerular filtration rate (eGFR), and thus identify communities with a high prevalence of reduced glomerular filtration rate (GFR). In this paper, we propose a standardised minimum protocol for cohort studies in high-risk communities aimed at investigating the incidence of, and risk factors for, early kidney dysfunction.Methods and analysisThis generic cohort protocol provides the information to establish a prospective population-based cohort study in low-income settings with a high prevalence of CKDu. This involves a baseline survey that included key elements from the DEGREE survey (eg, using the previously published DEGREE methodology) of a population-representative sample, and subsequent follow-up visits in young adults (without a pre-existing diagnosis of CKD (eGFR<60 mL/min/1.73m2), proteinuria or risk factors for CKD at baseline) over several years. Each visit involves a core questionnaire, and collection and storage of biological samples. Local capacity to measure serum creatinine will be required so that immediate feedback on kidney function can be provided to participants. After completion of follow-up, repeat measures of creatinine should be conducted in a central laboratory, using reference standards traceable to isotope dilution mass spectrometry (IDMS) quality control material to quantify the main outcome of eGFR decline over time, alongside a description of the early evolution of disease and risk factors for eGFR decline.Ethics and disseminationEthical approval will be obtained by local researchers, and participants will provide informed consent before the study commences. Participants will typically receive feedback and advice on their laboratory results, and referral to a local health system where appropriate.


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