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This article was published in the following journal.
Name: Brain : a journal of neurology
Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is...
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder affecting approximately 1 in 6,000 in general population and represents one of the most common genetic causes of epile...
Emerging data from studies of pediatric-onset pulmonary arterial hypertension (PAH) indicate that the genomics of pediatric PAH is different than that of adults. There is a greater genetic burden in c...
Limited evidence suggests that early cannabis use is associated with sleep problems. Research is needed to understand the developmental impact of early regular cannabis use on later adult sleep durati...
Combined Analysis of 24 Type 2 Diabetes Genetic Risk Variants Indicates that Early-onset of Type 2 Diabetes in the Chinese Han Population can be Attributed Mainly to β-cell Function-related Genetic Risk.
To investigate the genetic factors contributing to early-onset type 2 diabetes (EOD) in the Chinese Hans populations.
Genetic abnormalities in focal epilepsies are well known. A novel gene (DEPDC5) was identified, associated with various genotypes of epilepsies. Recently, DEPDC5 mutations were identified ...
The DNA and Cell Bank of Instituts Federatifs de Recherche (IFR) of Neurosciences has been running for the last 15 years at the Institut National de la Santé Et de la Recherche Médicale ...
When focal epilepsies become drug-resistant, it could be eligible for cortical surgical resection. Therefore, an invasive EEG monitoring with depth electrodes is often needed during presur...
To establish a clinic based case control study for examination of potential risk factors for primary adult brain tumors.
The purpose of this study is to collect samples from patients with Early-Onset Alzheimer's disease (AD) and their immediate family members for molecular analysis. Samples will be studied i...
Rheumatoid arthritis of children occurring in three major subtypes defined by the symptoms present during the first six months following onset: systemic-onset (Still's Disease, Juvenile-Onset), polyarticular-onset, and pauciarticular-onset. Adult-onset cases of Still's disease (STILL'S DISEASE, ADULT-ONSET) are also known. Only one subtype of juvenile rheumatoid arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
Facilities providing diagnostic, therapeutic, and palliative services for patients with severe chronic pain. These may be free-standing clinics or hospital-based and serve ambulatory or inpatient populations. The approach is usually multidisciplinary. These clinics are often referred to as "acute pain services". (From Br Med Bull 1991 Jul;47(3):762-85)
Systemic-onset rheumatoid arthritis in adults. It differs from classical rheumatoid arthritis in that it is more often marked by acute febrile onset, and generalized lymphadenopathy and hepatosplenomegaly are more prominent.