scholarly journals E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

2021 ◽  
pp. 1-12
Author(s):  
Jonathan Pini ◽  
Gabriele Siciliano ◽  
Pauline Lahaut ◽  
Serge Braun ◽  
Sandrine Segovia-Kueny ◽  
...  
Keyword(s):  
Data Privacy ◽  
Neuromuscular Diseases ◽  
Disease Assessment ◽  
Private Companies ◽  
Social Burden ◽  
Database Construction ◽  
Significant Step ◽  
New Perspective ◽  
Expert Community

By definition, neuromuscular diseases are rare and fluctuating in terms of symptoms; patients are often lately diagnosed, do not have enough information to understand their condition and be proactive in their management. Usually, insufficient resources or services are available, leading to patients’ social burden. From a medical perspective, the rarity of such diseases leads to the unfamiliarity of the medical staff and caregiver and an absence of consensus in disease assessment, treatment, and management. Innovations have to be developed in response to patients’ and physicians’ unmet needs. It is vital to improve several aspects of patients’ quality of life with a better comprehension of their disease, simplify their management and follow-up, help their caregiver, and reduce the social and economic burden for living with a rare debilitating disease. Database construction regrouping patients’ data and symptoms according to specific country registration on data privacy will be critical in establishing a clear consensus on neuromuscular disease treatment. Clinicians also need technological innovations to help them recognize neuromuscular diseases, find the best therapeutic approach based on medical consensus, and tools to follow patients’ states regularly. Diagnosis also has to be improved by implementing automated systems to analyze a considerable amount of data, representing a significant step forward to accelerate the diagnosis and the patients’ follow up. Further, the development of new tools able to precisely measure specific outcomes reliably is of the matter of importance in clinical trials to assess the efficacy of a newly developed compound. In this context, the creation of an expert community is essential to communicate and share ideas. To this end, 97 clinicians, healthcare professionals, researchers, and representatives of private companies from 9 different countries met to discuss the new perspective and challenges to develop and implement innovative tools in the field of neuromuscular diseases. Keywords:

Low-Dose Anti-Thyroid Medication in Graves Disease: Assessment of the Efficacy Based on a Long-Term Follow-Up (Interim Report)

2011 ◽  
pp. P1-684-P1-684
Author(s):  
Hamid Reza Bazrafshan ◽  
Friedrich Fitz ◽  
Martin Steinmair ◽  
Clemens Reichl ◽  
Mohsen Beheshti ◽  
...  
Keyword(s):  
Low Dose ◽  
Disease Assessment ◽  
Graves Disease ◽  
Interim Report ◽  
Thyroid Medication ◽  
Long Term Follow Up

scholarly journals Understanding the patient voice in gout: a quantitative study conducted in Europe

BJGP Open ◽  
2020 ◽  
Vol 4 (1) ◽  
pp. bjgpopen20X101003 ◽  
Author(s):  
Marc De Meulemeester ◽  
Elsa Mateus ◽  
Hilda Wieberneit-Tolman ◽  
Neil Betteridge ◽  
Lucy Ireland ◽  
...  
Keyword(s):  
Severe Pain ◽  
Online Survey ◽  
Online Questionnaire ◽  
Social Burden ◽  
Long Term Effect ◽  
Key Barrier ◽  
Treatment Expectation ◽  
Insight Into

BackgroundAlthough commonly diagnosed, gout often remains a poorly managed disease. This is partially due to a lack of awareness of the long-term effect of gout among patients and healthcare professionals.AimTo understand unmet needs for patients and provide insight into achieving better treatment.Design & settingA quantitative online questionnaire collected from 1100 people with gout from 14 countries within Europe.MethodPatients were recruited to complete an online survey via healthcare professional (HCP) referral, patient associations, or market research panels. Patients were included if they had been diagnosed with gout by a physician. Prior to commencement, patients were made aware that this study was sponsored by Grünenthal. The responses collected were collated and analyses were performed.ResultsPatients had an average of 2.9 gout flares within a 12-month period. Although 79% of patients were satisfied with treatment, inadequate gout control was also reported by 71% of patients. Furthermore, 84% experienced moderate-to-severe pain with their most recent flare. Of those who acknowledged treatment dissatisfaction, only 24% discussed other options with their GP. Most patients reported irregular follow-up and serum uric acid (sUA) monitoring. In addition, loss of belief that more can be done was a key barrier for patients.ConclusionPatients reported severe pain and social burden, coupled with low treatment expectation and lack of awareness of target sUA. Education around knowing and reaching sUA target is needed so that patients can receive and GPs can deliver higher quality management.

scholarly journals Expert-analytical Support of Foreign Policy Activities

2021 ◽  
Vol 14 (5) ◽  
pp. 22-48
Author(s):  
A. A. Varfolomeev ◽  
O. P. Ivanov ◽  
I. V. Surma ◽  
Y. A. Trefilova
Keyword(s):  
Artificial Intelligence ◽  
Foreign Policy ◽  
Foreign Affairs ◽  
Decision Making Process ◽  
Policy Decisions ◽  
The Russian Federation ◽  
Detailed Interpretation ◽  
Two Stages ◽  
Expert Community

The article presents the final results of the project studying the system of expert and analytical support for foreign policy decisions. The project is devoted to conducting a survey and a set of interviews with employees of government bodies (leaders and chief specialists) who are involved in the process of preparing and making foreign policy decisions. The article contains the officials’ assessment of the main challenges when interacting with the scientific and expert community, as well as a "desired image" of such interaction.The study was held in two stages (stage I in February-October 2020, stage II-in January-August 2021) in the form of a survey with a set of follow-up interviews for a more detailed interpretation of the data obtained. The interviewees included 24 employees of federal executive bodies (the Ministry of Foreign Affairs of Russia and Rossotrudnichestvo; departments of international cooperation of line ministries, agencies and services); offices of the chambers of the Federal Assembly of the Russian Federation (departments providing international and inter-parliamentary cooperation). All participants of the study are in positions of the "managers" category or are part of the group of "chief specialists", that is, they have experience in decision-making process and/or in elaborating them. The survey and interviews were anonymous. The research is within structural-functional, institutional and regulatory approaches. The authors note that informational materials with low level of generalization and lacking recommendations and forecasts will never replace genuine analytics and expertise. Given the development of artificial intelligence, generalizing information will be automatized. As a result, expertise has to be of better quality.

Ensuring hemodialysis adequacy by dialysis dose monitoring with UV spectroscopy analysis of spent dialyzate

2021 ◽  
pp. 039139882110598
Author(s):  
Li Zhang ◽  
Wenhu Liu ◽  
Chuanming Hao ◽  
Yani He ◽  
Ye Tao ◽  
...  
Keyword(s):  
Online Monitoring ◽  
Uv Spectroscopy ◽  
Daily Practice ◽  
Dialysis Dose ◽  
Dialysis Adequacy ◽  
Av Fistula ◽  
Dose Monitoring ◽  
Significant Step

Introduction: Patients’ session-to-session variation has been shown to influence outcomes, making critical the monitoring of dialysis dose in each session. The aim of this study was to detect the intra-patient variability of blood single pool Kt/V as measured from pre-post dialysis blood urea and from the online tool Adimea®, which measures the ultraviolet absorbance of spent dialyzate. Methods: This open, one-armed, prospective non-interventional study, evaluates patients on bicarbonate hemodialysis or/and on hemodiafiltration. Dialysis was performed with B. Braun Dialog+ machines equipped with Adimea®. In the course of the prospective observation, online monitoring with Adimea® in each session was established without the target warning function being activated. A sample size of 97 patients was estimated. Results: A total of 120 patients were enrolled in six centers in China (mean age 51.5 ± 12.2 years, 86.7% males, 24.2% diabetics). All had an AV-fistula. The proportion of patients with blood Kt/V < 1.20 at baseline was 48.3%. During follow-up with Adimea®, the subgroup with Kt/V > 1.20 at baseline remains at the same adequacy level for more than 90% of the patients. Those with a Kt/V < 1.20 at baseline, showed a significant increase of Kt/V to 60% of the patients reaching the adequacy level >1.20. The coefficient of variation for spKt/V as evaluated by Adimea® was 9.6 ± 3.4%, not significantly different from the 9.6 ± 8.6% as blood Kt/V taken at the same time. Conclusion: Online monitoring of dialysis dose by Adimea® improves and maintains dialysis adequacy. Implementing online monitoring by Adimea into daily practice moves the quality of dialysis patient care a significant step forward.

scholarly journals Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

Neurology ◽  
2020 ◽  
Vol 94 (11) ◽  
pp. e1171-e1180 ◽  
Author(s):  
Elena Cortés-Vicente ◽  
Rodrigo Álvarez-Velasco ◽  
Sonia Segovia ◽  
Carmen Paradas ◽  
Carlos Casasnovas ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Neuromuscular Diseases ◽  
Cross Sectional ◽  
Life Threatening ◽  
Onset Group ◽  
Anti Acetylcholine

ObjectiveTo describe the characteristics of patients with very-late-onset myasthenia gravis (MG).MethodsThis observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all cases. Patients were classified into 3 age subgroups: early-onset MG (age at onset <50 years), late-onset MG (onset ≥50 and <65 years), and very-late-onset MG (onset ≥65 years). Demographic, immunologic, clinical, and therapeutic data were reviewed.ResultsA total of 939 patients from 15 hospitals were included: 288 (30.7%) had early-onset MG, 227 (24.2%) late-onset MG, and 424 (45.2%) very-late-onset MG. The mean follow-up was 9.1 years (SD 4.3). Patients with late onset and very late onset were more frequently men (p < 0.0001). Compared to the early-onset and late-onset groups, in the very-late-onset group, the presence of anti–acetylcholine receptor (anti-AChR) antibodies (p < 0.0001) was higher and fewer patients had thymoma (p < 0.0001). Late-onset MG and very-late-onset MG groups more frequently had ocular MG, both at onset (<0.0001) and at maximal worsening (p = 0.001). Although the very-late-onset group presented more life-threatening events (Myasthenia Gravis Foundation of America IVB and V) at onset (p = 0.002), they required fewer drugs (p < 0.0001) and were less frequently drug-refractory (p < 0.0001).ConclusionsPatients with MG are primarily ≥65 years of age with anti-AChR antibodies and no thymoma. Although patients with very-late-onset MG may present life-threatening events at onset, they achieve a good outcome with fewer immunosuppressants when diagnosed and treated properly.

White Matter Changes and Cognitive Decline in a Ten-Year Follow-Up Period: A Pilot Study on a Single-Center Cohort from the Leukoaraiosis and Disability Study

2016 ◽  
Vol 41 (5-6) ◽  
pp. 303-313
Author(s):  
Sofia Madureira ◽  
Ana Verdelho ◽  
Carla Moleiro ◽  
Catarina Santos ◽  
Philip Scheltens ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
White Matter ◽  
Verbal Learning ◽  
White Matter Lesions ◽  
Disease Assessment ◽  
California Verbal Learning Test ◽  
Clinical Diagnoses ◽  
Neuropsychological Predictors ◽  
Learning Test

Aims: To describe the contribution of white matter lesions to the long-term neuropsychological profiles of different groups of clinical diagnoses, and to identify neuropsychological predictors of cognitive impairment in a 10-year follow-up. Methods: The Lisbon subcohort of the Leukoaraiosis and Disability (LADIS) study was re-evaluated performing a clinical, functional and cognitive evaluation [including Mini-Mental State Examination (MMSE), Alzheimer's Disease Assessment Scale - Cognition (ADAS-Cog) and ADAS-Cog with the extension for vascular impairment (VADAS-Cog), the 9-word version of the California Verbal Learning Test (CVLT-9), the Trail-Making test and the Stroop test] as well as an MRI scan. Using clinical diagnostic criteria, participants were identified as having no cognitive impairment (NI), cognitive impairment but no dementia (CIND) or dementia (DEM), and the effect of time on clinical diagnosis and neuropsychological profiles was analyzed. Results: From the initial group of 66 participants, 37 out of 41 survivors (90%) were re-evaluated (mean age 81.40 years, 57% women). Fifteen patients (41%) had DEM, 12 (32%) CIND and 10 (27%) NI. Over time, the three groups presented distinct profiles in the MMSE [F2, 62 = 15.85, p = 0.000], ADAS [F2, 62 = 15.85, p = 0.000] and VADAS [F2, 48 = 5.87, p = 0.008]. Logistic regression analysis identified higher scores on MMSE (β = 1.14, p = 0.03, OR = 3.13, 95% CI 1.09-8.97) as predictors of NI after 10 years of follow-up. Conclusion: Higher scores on baseline MMSE were the only neuropsychological predictors of NI after 10 years.

Secondary Bone Defect in Neuromuscular Diseases in Childhood: A Longitudinal “Muscle-Bone Unit” Analysis

2018 ◽  
Vol 49 (06) ◽  
pp. 397-400 ◽  
Author(s):  
C. Ribstein ◽  
D. Courteix ◽  
N. Rabiau ◽  
C. Bommelaer ◽  
Y. Bourdeau ◽  
...  
Keyword(s):  
Bone Defect ◽  
Functional Relationship ◽  
Bone Markers ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Mineral Density ◽  
Z Scores ◽  
Spinal Muscular Atrophies ◽  
Total Body

AbstractTo evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 Duchenne muscular dystrophies (DMD) and 2 limb-girdle muscular dystrophies (LGMD); 3 Becker muscular dystrophies (BeMD) and 7 spinal muscular atrophies (SMA). Yearly osteodensitometries assessed body composition and bone mineral density (BMD) associated with bone markers and leptin. Along the 7-year study, 107 osteodensitometries showed that bone status evolved to osteopenia in most patients except BeMD. When analyzing the crude values, BMD improved with age in BeMD and SMA but not in DMD/LGMD. The correlation using the Z-scores displayed a decrease in BMD with age in DMD/LGMD for all regions, in SMA at total body less head, whereas BMD increased in BeMD at lumbar spine. As observed in healthy persons, muscular mass and bone tissue were significantly correlated. Glucocorticoids were deleterious on trabecular and cortical bone. Leptin was high in most patients and correlated to fat mass and bone parameters. This study confirms a secondary bone defect in neuromuscular diseases, further confirming the functional relationship between bone and muscle and arguing for regular bone follow-up in patients to prevent fracture risk. Adipose tissue seems to interfere with bone remodeling in neuromuscular diseases.

scholarly journals Understanding the evolution of epilepsy – the value of collecting longitudinal data in the setting of a first seizure clinic

2015 ◽  
Vol 42 (S1) ◽  
pp. S9-S10
Author(s):  
B Pohlmann-Eden ◽  
KT Legg ◽  
MH Schmidt ◽  
CE Crocker
Keyword(s):  
Longitudinal Data ◽  
Initial Assessment ◽  
Cross Sectional ◽  
Disease Evolution ◽  
Advanced Stages ◽  
Concepts Of Disease ◽  
Marijuana Consumption ◽  
New Perspective ◽  
Treatment Prognosis

Objective: Our knowledge of disease mechanisms in epilepsy is biased by findings originating from cross-sectional studies and advanced stages of epilepsy. We provide a new perspective by collecting systematically longitudinal data from patients who present in early stages (ES). Methods: The Halifax First Seizure Clinic, founded in 2008, uses a comprehensive multimodal data basis addressing clinical presentation, neuroimaging, EEG findings, genetics, cognition, comorbidities, social parameters, and life style. Follow-up visits are 6, 12 and 24 months. Results: Out of 575 patients we identified 3 subgroups 1) Strictly first seizure, n=187, 2) New-onset epilepsy (> 1 seizure < 12 months), n=149, and 3) Newly-diagnosed epilepsy (seizures > > 12 months), n=50. 189 patients were excluded (not proven seizure or other conditions e.g syncope etc.). Our interim analyses suggest: A) pharmacoresistance presents in highly diverse patterns and is rarer than expected in ES, B) Congenital malformations seem to have an excellent treatment prognosis in ES, C) Marijuana consumption is significantly more prevalent at initial assessment (comparison general population), D) Preceding psychiatric comorbidities associated with reduced amygdalar volume may be a predictor for seizure recurrence. Conclusions: The preliminary and illustrative findings of our pilot study challenge current concepts of disease evolution in epilepsy.

Continued monoclonal protein response beyond day 100 after auto-transplantation for multiple myeloma.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 8587-8587
Author(s):  
Wilson I. Gonsalves ◽  
Morie Gertz ◽  
Yi Lin ◽  
Martha Lacy ◽  
Angela Dispenzieri ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Clinical Response ◽  
M Protein ◽  
Disease Assessment ◽  
Maximal Response ◽  
Solitary Plasmacytoma ◽  
Bone Marrow Plasma ◽  
Smoldering Myeloma ◽  
Protein Response

8587 Background: Patients (pts) undergoing an auto-transplant (ASCT) for multiple myeloma (MM) have disease assessment approximately 100 days later. This result may direct decisions of further therapy versus observation. However, some pts continue to experience a decline in their serum or urine monoclonal (M) - protein after day 100 without more therapy. Little is known about the prevalence and significance of this phenomenon. Methods: We identified 903 MM pts who underwent ASCT within 12 months (mos) of diagnosis (Dx) at our institution. Their day 100 post-ASCT M-protein from serum and urine electrophoresis with immunofixation as well as serum free light chains were compared to subsequent values during follow-up. The IMWG criteria were used to evaluate response. Results: Of the pts included, 510 (56%) were male and median age at ASCT was 59 (range 28-76). Median follow up from Dx and ASCT was 82 mos (95% CI; 75 - 86) and 74 mos (95% CI; 70 - 79) respectively. There were 453 (50%) pts seen in follow-up who had not achieved a CR at Day 100 nor initiated on maintenance therapy. Of these pts, 167 (37%) had a further decrease in their M-protein after day 100 at a median of 9.4 mos (95% CI; 8 – 10) post-ASCT. Given the time taken for maximal response, we assessed patients’ clinical response at one year post-ASCT. Compared to patients who did not have further clinical response between day 100 and 1 year, pts experiencing further response had a longer time to next therapy (TTNT) (43 mos vs. 17 mos, P < 0.001) as well as overall survival (OS) (96 mos vs. 62 mos, P < 0.001). Positive predictors for continued response included having an IgG isotype, evolution from a pre-existing MGUS, smoldering myeloma or solitary plasmacytoma and a Day 100 bone marrow plasma cell < 3%. In a multivariate analysis, elevated creatinine at Dx and lack of continued response predicted for shorter TTNT and OS post-ASCT. Older age and high-risk MM by FISH also predicted a shorter OS. Conclusions: In MM pts undergoing ASCT, continued M - protein response was seen in a third of the pts lacking a CR at day 100. This phenomenon appears prognostic and must be considered when interpreting studies evaluating post-ASCT response and the need for further therapy.

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