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

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ConclusionComplete cytoreductive surgery is the cornerstone of the PK's management as a primary treatment. Recurrence remains common and new adjuvant strategies seem needed.
Source: European Journal of Surgical Oncology (EJSO) - Category: Surgery Source Type: research
We report a successful case of a giant left lung bullectomy with intraoperative support with Pro-Lung CO2 removal device for the management of hypercapnia during single lung ventilation.
Source: General Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
Cushing's disease (and by extension, Cushing's syndrome) is a rare disease due to a chronic cortisol excess, which usually has an important impact on quality of life (QoL). It can lead to numerous comorbidities that can interfere with daily life, as fatigability, myopathy, bone loss and fragility, increased cardiovascular risk, depression, and cognitive alterations. Of note, psychological alterations (including depression and anxiety) occur often, and are an important determinant of impaired quality QoL. QoL scores using different questionnaires are poorer in comparison to healthy controls, other pituitary adenomas and som...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Source: Neurological Sciences - Category: Neurology Source Type: research
Dr. Hamori recently addressed concerns over BIA-ALCL in this video." ALCL (Anaplastic large cell lymphoma) is a very rare disease, found in approximately one in 30,000 patients. So, while there is a lot of hype about it right now, and while I think it is important that women are aware of it, it is also creating a lot of panic for a disease that is quite uncommon.First of all, it affects only people who have textured implants — implants that have a little pebbling on the outside. The theory is that after seven or eight years contamination can occur, some over reactive immune response occurs, a fluid film for...
Source: What's New In Plastic Surgery? - Category: Cosmetic Surgery Tags: bia-alcl breast implant disease Source Type: blogs
Publication date: Available online 9 December 2019Source: Drug Discovery Today: Disease ModelsAuthor(s): Angela J. Glading, Federica Finetti, Lorenza TrabalziniCerebral cavernous malformation (CCM) is a rare disease of genetic origin characterized by dilated and leaky capillaries occurring mainly in the central nervous system. CCM can arise sporadically or may be inherited as an autosomal dominant condition with incomplete penetrance and variable clinical expressivity. The sporadic form accounts for up to 80% of cases, whereas the familial form accounts for at least 20% of cases. Genetic studies have identified three genes...
Source: Drug Discovery Today: Disease Models - Category: Drugs & Pharmacology Source Type: research
A New York investment firm has raised $210 million for startups coming out of Boston-based biotech accelerator Xontogeny. It announced its first investment Tuesday: a $17 million early-stage funding of a local rare-disease startup.
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
C3 glomerulonephritis (C3GN) is a rare disease caused by inherited or acquired complement alternative pathway (CAP) dysregulation, which could also be secondary to monoclonal gammopathy of undetermined signifi...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Case report Source Type: research
Immune checkpoint inhibitors (ICIs) can cause adverse reactions in the nervous system. The incidence rate is 0.1% –12% and 80% of nervous system adverse reactions occur within the first four months of application. ICIs can cause diseases of various parts of the nervous system including central nervous system diseases such as aseptic meningitis, meningeal encephalitis, necrotizing encephalitis, brainstem encep halitis, transverse myelitis, etc., and peripheral neuropathy such as cranial nerve peripheral neuropathy, multifocal nerve root neuropathy, Guillain‐Barré syndrome, spinal nerve root neuropathy, myasth...
Source: Thoracic Cancer - Category: Cancer & Oncology Authors: Tags: CLINICAL GUIDELINE Source Type: research
ConclusionsComplement and genetic studies are now routinely recommended for patients with a histopathological diagnosis of C3G. Careful interpretation of these studies and their prognostic and therapeutic implications in conjunction with biopsy findings is needed to further understand the pathophysiology of this rare disease in children.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research
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