Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities.

Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities. Exp Neurol. 2017 Jun 03;: Authors: Schulz A, Grafe P, Hagel C, Bäumer P, Morrison H, Mautner VF, Farschtschi S Abstract The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. We show that neuropathic symptoms are a common and clinically important, yet infrequently studied feature in the NF spectrum. However, the clinical relevance and respective underlying pathogenesis, varies greatly among the different NF types. In this review, we summarize and interpret the latest basic research findings, as well as clinical observations, in respect of Neurofibromatosis-associated neuropathies. PMID: 28587874 [PubMed - as supplied by publisher]
Source: Experimental Neurology - Category: Neurology Authors: Tags: Exp Neurol Source Type: research

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We report the case of a 17-year-old patient with recurrent hemorrhagic pericardial effusion, who was diagnosed with primary pericardial fibrosarcoma. However, multiple radiological examinations, including CT and [18F] FDG/PET-CT, suggested the presence of fluid and no sign of tumor. Actually, when a patient presents with recurrent hemorrhagic pericardial effusions, pericardial tumors must be taken into account as part of the differential diagnosis.
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
CONCLUSIONS Our study described rare diseases in Chinese patients and our results enrich the phenotype spectrum of related diseases, as well as mutation spectrum of related genes, which might be significant for clinical disease diagnosis and prenatal diagnosis. PMID: 31603145 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
Publication date: Available online 12 October 2019Source: Annals of Physical and Rehabilitation MedicineAuthor(s): Masahiko Mukaino, Birgit Prodinger, Yuki Okouchi, Kouji Mizutani, Yuki Senju, Megumi Suzuki, Eiichi SaitohAbstractBackground: Modification of the home environment, together with rehabilitative interventions, is important for maximizing the level of functioning after an individual with disability undergoes rehabilitation in the hospital.Objectives: We developed a simple screening scale — the home environment checklist (HEC) — to identify any mismatch between an individual’s abilities and their...
Source: Annals of Physical and Rehabilitation Medicine - Category: Rehabilitation Source Type: research
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
Authors: Saraceno B Abstract Global mental health (GMH) seems to enjoy increasing visibility in the global health and development discourse. However, this visibility implies also the urgency of addressing few questions about new priority setting in the domains of policy, care delivery, service organisation and research. Even before trying to answer these questions, rethinking more deeply the notion and implications of GMH seems to be a useful collective exercise. Some unanswered questions should be at the core of this exercise: Is GMH really global or rather Western? Is GMH concerned enough with local context? Is G...
Source: Epidemiology and Psychiatric Sciences - Category: Psychiatry Tags: Epidemiol Psychiatr Sci Source Type: research
Authors: Horta-Baas G, Peláez-Ballestas I, Queipo G, Montero Hernández U, Romero-Figueroa MDS Abstract OBJECTIVES: Alexithymia is a personality trait related to the quality of life of women with fibromyalgia (FM). It is still unknown whether alexithymia is associated with the clinical manifestations of FM. The present study describes the relationship between alexithymia and the domains included in the core set recommended by the Outcome Measures in Rheumatology (OMERACT) for FM evaluation. METHODS: One hundred two women with FM were enrolled in the cross-sectional study. The domains evaluated were...
Source: Clinical and Experimental Rheumatology - Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research
Publication date: Available online 11 October 2019Source: Life SciencesAuthor(s): Jenq-Lin Yang, Yun-Ru Yang, Shang-Der ChenAbstractStroke is the major cause of adult disability and the second or third leading cause of death in developed countries. The treatment options for stroke (thrombolysis or thrombectomy) are restricted to a small subset of patients with acute ischemic stroke because of the limited time for an efficacious response and the strict criteria applied to minimize the risk of cerebral hemorrhage. Attempts to develop new treatments, such as neuroprotectants, for acute ischemic stroke have been costly and tim...
Source: Life Sciences - Category: Biology Source Type: research
This study investigated the effect of sumatriptan on ovalbumin-induced allergic rhinitis model in mice and the role of nitric oxide.MethodsFemale Balb/c mice were sensitized by intraperitoneal ovalbumin and challenged by intranasal ovalbumin. Mice received sumatriptan in doses 3, 10, 30 μg/kg intraperitoneally, 30 min before the last ovalbumin challenge.Key findingsIntraperitoneal injection of sumatriptan significantly decreased the nasal scratching, IL-4 and serum IgE levels of allergic mice, but it increased IFNγ levels. Histopathological analysis showed that the number of eosinophils was significantly eleva...
Source: Life Sciences - Category: Biology Source Type: research
I have just finished my first year of a masters in occupational therapy. Before starting this program, I was debating whether to pursue a career in nursing or OT. I chose OT because I have a background in therapeutic recreation and want to work with children and families affected by illness and disability. But after starting my program, I have realized that much of the OT program curriculum is theory. I am not learning as much of the hard science and practical skills that I would like to... Second thoughts about Occupational Therapy...
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Clinicians [ RN / NP / PA ] Source Type: forums
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