The National Institute on Aging and the Alzheimer’s Association (NIA-AA) charged a workgroup with the task of developing criteria for the symptomatic predementia phase of Alzheimer’s disease (AD), referred to in this article as mild cognitive impairment due to AD. Continue reading
The Dementia with Lewy Bodies (DLB) Consortium has refined its recommendations about the clinical and pathologic diagnosis of DLB, updating the previous report, which has been in widespread use for the last decade. The revised DLB consensus criteria now distinguish clearly between clinical features and diagnostic biomarkers, and give guidance about optimal methods to establish and interpret these.
This simplified revised set of diagnostic criteria may facilitate its more uniform and widespread applicability in different clinical scenarios and environments. Continue reading
The International Myeloma Working Group (IMWG) consensus updates the disease definition of multiple myeloma to include validated biomarkers in addition to existing requirements of attributable CRAB features (hypercalcaemia, renal failure, anaemia, and bone lesions). Continue reading
Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2).
Neuromyelitis optica (NMO; Devic syndrome) is a clinically defined, severe CNS demyelinating syndrome characterized by optic neuritis (ON) and acute myelitis; the presence of CNS symptoms outside the optic nerves and spinal cord has until recently excluded the diagnosis.
I. Ocular symptoms: a positive response to at least one of the following questions:
Have you had daily, persistent, troublesome dry eyes for more than 3 months?
Do you have a recurrent sensation of sand or gravel in the eyes?
Do you use tear substitutes more than 3 times a day?
- Idiopathic insomnia: Insomnia arising in infancy or childhood with a persistent, unremitting course
- Psychophysiologic insomnia: Insomnia due to a maladaptive conditioned response in which the patient learns to associate the bed environment with heightened arousal rather than sleep; onset often associated with an event causing acute insomnia, with the sleep disturbance persisting despite resolution of the precipitating factor
- Paradoxical insomnia (sleep-state misperception): Insomnia characterized by a marked mismatch between the patients description of sleep duration and objective polysomnographic findings Continue reading
Amsterdam Criteria (1991)
Three or more relatives with colorectal cancer, plus all of the following:
One affected patient should be a first-degree relative of the other two;
Colorectal cancer should involve at least two generations;
At least one case of colorectal cancer should have been diagnosed before the age of 50 years.
Definite diagnosis of CD
History and clinical presentation compatible with CD
- Serological screening compatible with CD: antigliadin antibody (AGA) antiendomysium antibody (AEA), tissue transglutaminase (tTG) antibody.
- Histological findings compatible with CD: villous atrophy
- Obvious clinical and serological response to a gluten free diet (GFD)
- Subject >2 years old
- Rule out other clinical conditions mimicking CD Continue reading