Estimating Amyotrophic Lateral Sclerosis and Motor Neuron Disease Prevalence in Portugal Using a Pharmaco-Epidemiological Approach and a Bayesian Multiparameter Evidence Synthesis Model

Conclusion: Overall, and even though we must account for the limitations of the indirect methods and models used for prevalence estimation, we probably have a very high ALS/MND prevalence in Portugal. It would be important to create registries, particularly in rare diseases, for better organization and distribution of healthcare services and resources, particularly at the level of ventilatory support.Neuroepidemiology
Source: Neuroepidemiology - Category: Epidemiology Source Type: research

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Authors: Horton R, Lucassen A Abstract Introduction: Clinical practice and research are traditionally seen as distinct activities that are governed by different principles and processes. Innovative technologies such as genomic testing challenge this model, involving many activities that cannot be easily categorized as purely research, or purely clinical care. Areas covered: We discuss the interdependence of research and clinical practice in the context of genomics, for example, when determining the significance of rare genetic variants, or diagnosing newly described rare diseases. We highlight the potential of the ...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research
Authors: Colbaugh R, Glass K, Rudolf C, Tremblay Volv Global Lausanne Switzerland M Abstract There is increasing interest in developing prediction models capable of identifying rare disease patients in population-scale databases such as electronic health records (EHRs). Deriving these models is challenging for many reasons, perhaps the most important being the limited number of patients with 'gold standard' confirmed diagnoses from which to learn. This paper presents a novel cascade learning methodology which induces accurate prediction models from noisy 'silver standard' labeled data - patients provisionally label...
Source: AMIA Annual Symposium Proceedings - Category: Bioinformatics Tags: AMIA Annu Symp Proc Source Type: research
ConclusionMLL remains to be underdiagnosed. Due to the obesity epidemic, clinicians must be aware of this once rare disease. The role of concurrent bariatric surgery with surgical resection of MLL warrants further studies.
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research
CONCLUSIONS: Mammography and ultrasound remain the leading modalities in breast imaging among males for diagnostic workup of palpable mass, with gynecomastia being the predominant diagnosis. However, presentation with palpable mass was also associated with malignancy. Despite a notable MBC rate in our cohort, the likelihood of cancer is low in young patients and in cases of gynecomastia. PMID: 31599508 [PubMed - in process]
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
We report a case of emphysematous esophagitis and gastritis with complete affectation of the gastric and esophageal wall at diagnosis. Two surgical interventions were performed due to gastric perforation that was treated in both cases with primary closure. The post-operative recovery was satisfactory. Despite the large emphysematous esophago-gastritis affectation at diagnosis and the presence of gastric perforation, it is safe to perform the same management principles as with emphysematous gastritis. This should be as conservative as possible in case a surgical procedure is required. PMID: 31599641 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Conclusions: We demonstrated in the SOD1G93A model of ALS that increased levels of several cytokines were associated with a shorter lifespan. However, their role as prognostic biomarkers is unclear as their expression was very variable depending on both the disease stage and the subject. Nevertheless, cytokines may be potential therapeutic targets. Introduction Amyotrophic Lateral Sclerosis (ALS) is one of the most common rare diseases of unknown origin that leads to progressive motor neuron degeneration and muscle denervation (1). In particular, it has been described that either distal axonopathy or neuromuscular ju...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Author Affiliations open 1Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands 2Environmental Epidemiology Division, Institute for Risk Assessment Sciences, Utrecht University, Utrecht, Netherlands 3Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, Netherlands 4Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, Netherlands 5Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center for Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, Netherla...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Source Type: research
Authors: Verschueren A Abstract Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic ...
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
Conclusions: PADL-ALS is a patient-centric revision of the ALSFRS designed specifically to conduct large pragmatic trials in ALS using the EMR patient-portal. Future directions include validation against concurrently collected ALSFRS, and determination of rates of progression in clinical settings. Study Supported by: PCORI Contract: CDRN-1306-04631, JS work supported by KL2TR000119.Disclosure: Dr. Barohn has received personal compensation for activities with Grifols &Genzyme, Speakers Bureau, NuFactor as speaker and consultant. Dr. Statland has nothing to disclose. Dr. Kimminau has nothing to disclose. Dr. McMahon has ...
Source: Neurology - Category: Neurology Authors: Tags: Natural History and Outcome in Motor Neuron Diseases and Peripheral Neuropathies Source Type: research
The clinical diagnosis of amyotrophic lateral sclerosis (ALS) is based on the presence of upper and lower motor neuron abnormalities spreading between body segments, along with the exclusion of rare disease mimics. No definitive diagnostic testing exists. Accurate, timely diagnosis of ALS is essential in order to provide appropriate patient counseling. While the revised El Escorial criteria provide standards for research purposes,1 trainees should be aware that many patients never meet criteria for definite ALS. ALS is a clinically heterogeneous disorder and presentations vary in regards to the distribution of weakness, ra...
Source: Neurology - Category: Neurology Authors: Tags: All Neuromuscular Disease, Amyotrophic lateral sclerosis, EMG RESIDENT AND FELLOW SECTION Source Type: research
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