Results 91 to 100 of about 45,763 (247)
Adult sickle cell disease and SARS-CoV-2: an increasingly common comorbidity for a rare disease
Italian Journal of MedicineSickle cell disease (SCD) is a collection of genetic lesions that manifest in the diminished effectiveness of hemoglobin. We collected and reviewed the recent and extant literature on SARS-CoV-2 (COVID-19) and SCD.
Michaela Boggan +14 more
doaj +1 more source
The emergence of the cause of rare diseases and rare disease patients’ movement [PDF]
Orphanet Journal of Rare Diseases, 2012 Three features of the cause of rare diseases may be important for the future of the movement. 1. The category of rare diseases was originally created to remedy the problem caused by orphan drugs in the USA. The 1962 Kefauver-Harris amendments to the Food, Drug and Cosmetic Act required the company wanting to market a drug to prove its efficacy. Each
openaire +2 more sources
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
EXAMPLES OF SOME SURGICAL DISEASES AND ACCIDENTS OF RARE OCCURRENCE. [PDF]
, 1884 HectorC. Cameron
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim +4 more
wiley +1 more source
Rare Features in a Case of Gaucher's Disease [PDF]
, 1954 E. Adler, S. Maybaum
openalex +1 more source
Thyroid Research, 2013 In general, rare thyroid diseases can be divided into neoplastic and non-neoplastic. Neoplastic rare thyroid diseases include the following: 1. primary thyroid lymphoma (1-5% all malignant neoplasms of the thyroid; 2:1 000 000 per year); 2. metastases to the thyroid gland (2-3% malignant thyroid neoplasms; 0.5-2.8% in autopsy) from various ...
openaire +2 more sources
CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad +7 more
wiley +1 more source