Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research

Related Links:

CONCLUSIONS: Hence, it is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations. PMID: 33034432 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
Conclusions. The nerve roots of CIDP, Charcot-Marie-Tooth disease type-1, and polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome were difficult to distinguish by MRN. Atypical CIDP patients had less nerve root injury compared with typical CIDP patients. MRN of either the brachial plexus or the lumbosacral plexus had a high diagnostic accuracy for CIDP, and it is not necessary to perform both parts of the examination. Level of Evidence: 2
Source: Spine - Category: Orthopaedics Tags: DIAGNOSTICS Source Type: research
In this interview, she reflects on the CDER's accomplishments in the field of rare diseases and what it's like to be overseeing the therapeutics component of Operation Warp Speed amid the COVID-19 pandemic.Medscape Medical News
Source: Medscape Infectious Diseases Headlines - Category: Infectious Diseases Tags: Infectious Diseases News Source Type: news
Condition:   Chemotherapy-induced Peripheral Neuropathy Intervention:   Drug: Cannabidiol 100 MG/ML Sponsors:   Zealand University Hospital;   University of Copenhagen Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Remarks by Stephen Hahn, MD Commissioner of Food and Drugs Dr. Hahn's Remarks to the 2020 NORD Rare Disease Summit Washington, DC Oct. 8, 2020
Source: FDA Center for Drug Evaluation and Research - What's New - Category: Drugs & Pharmacology Authors: Source Type: news
Condition:   Chemotherapy-induced Peripheral Neuropathy Intervention:   Drug: Cannabidiol 100 MG/ML Sponsors:   Zealand University Hospital;   University of Copenhagen Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusion: Our data documented drug efficacy that is satisfactory for this high-risk subset of patients with an acceptable toxicity profile. Results indicate that pixantrone could be a significant treatment option in patients with R/R aggressive DLBCL treated in everyday clinical practice.Acta Haematol
Source: Acta Haematologica - Category: Hematology Source Type: research
CONCLUSIONS: Lanadelumab is an effective but expensive long-term prophylaxis for HAE patients. A favorable side-effect profile has been shown. J Drugs Dermatol. 2020;19(10):978-983. doi:10.36849/JDD.2020.5269. PMID: 33026762 [PubMed - as supplied by publisher]
Source: Journal of Drugs in Dermatology - Category: Dermatology Tags: J Drugs Dermatol Source Type: research
houry Aggressive natural killer (NK) cell leukemia (ANKL) is a rare disease with a grave prognosis. Patients commonly present acutely with fever, constitutional symptoms, hepatosplenomegaly, and often disseminated intravascular coagulation or hemophagocytic syndrome. This acute clinical presentation and the variable pathologic and immunophenotypic features of ANKL overlap with other diagnostic entities, making it challenging to establish a timely and accurate diagnosis of ANKL. Since its original recognition in 1986, substantial progress in understanding this disease using traditional pathologic approaches has improved...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
ConclusionGanglioside monosialic acid potentially decreases severe utidelone plus capecitabine-induced peripheral neuropathy in metastatic breast cancer, and further investigation is needed to validate the manageable efficacy of GM1 in CIPN.Clinical Trial RegistrationClinicalTrials.gov, identifier NCT02253459.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
More News: Brain | Internal Medicine | Leukodystrophies | Neurology | Peripheral Neuropathy | Rare Diseases