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Biomedical subjects

H Chui

Publications and source records attributed to H Chui.

23 records · Page 2Linked to original sources
PubMed1989

Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds.

We report the clinical and neuropathological characteristics occurring in 180 demented individuals from 24 kindreds with familial Alzheimer's disease (FAD). Each family had at least two affected generations, and at least one autopsy or brain biopsy was compatible with the diagnosis of AD. Forty-nine neuropathological specimens or reports were reviewed. Mean age of onset for the total group was 54.7 years +/- 11.5, with a large range of 30 to 84 years. Mean age at death was 63.5 years +/- 12.2, with a range of 46 to 85. Mean duration of disease was 8.8 years +/- 4.4, with a range of 1 to 23 years. Six findings suggested phenotypic heterogeneity in FAD. (1) Five families represented an early age of onset group with mean onset at 42 years (range 30 to 51 years) and mean disease duration of 6.7 years. (2) Eight families represented a late onset group with mean onset at 68 years (range 59 to 78 years) and a mean duration of 8.5 years. (3) Seven families were of Volga German ancestry, all originating from the same two villages in Russia. Mean age of onset was 55.9 years (range 40 to 72 years), with a mean disease duration of 10 years. This group probably represents the genetic founder effect of an autosomal dominant gene for AD. (4) One family had the unusual characteristics of neurofibrillary tangles and granulovacuolar change but no amyloid plaques, a mean disease duration of more than 11 years, and a "schizophrenia-like" onset. (5) One family with late onset also had clinical and pathological evidence for anterior horn cell disease. (6) Two autopsies in 1 family both showed remarkable rarefaction of myelin and expansion of perivascular spaces in centrum semiovale (état criblé), with marked leptomeningeal and cortical amyloid angiopathy, distinct from the other FAD brains. It remains to be determined whether the clinical and pathological differences between these families represent genetic heterogeneity at the biochemical or molecular level.

Adult↗
PubMed1988

Functional recovery. A major risk factor for the development of postpoliomyelitis muscular atrophy.

A retrospective study was undertaken to identify potential risk factors for the development of progressive postpoliomyelitis muscular atrophy (PPMA). Patients with PPMA (n = 57) were compared with patients with a history of poliomyelitis but without a history of progressive weakness (n = 49). Patients who later developed PPMA had histories of more widespread acute paralysis, but relatively greater functional recovery. They were less disabled, and reported higher recent activity levels. Seventy-nine percent of the total variance between the PPMA and control groups could be accounted for by recovery alone (ie, severity minus disability). Functional recovery is generally attributed to reinnervation of sarcomeres by collateral sprouting from surviving lower motor neurons. Since degree of recovery predicts the risk of developing PPMA, our findings suggest that enlarged motor units may carry an increased susceptibility for dysfunction and/or degeneration.

Adult↗
PubMed1983

Churg-Strauss syndrome (allergic granulomatous angiitis). Neuro-ophthalmologic manifestations.

Two patients with severe bronchial asthma, hypereosinophilia, and peripheral neuropathy were initially observed with neuro-ophthalmologic signs and symptoms that included amaurosis fugax, superior oblique palsy, ischemic optic neuropathy, and scattered areas of retinal infarction. Clinical investigation led to the diagnosis of Churg-Strauss syndrome (allergic granulomatous angiitis). As in other collagen vascular diseases, ocular signs or symptoms may occasionally be the most prominent manifestation of the disease. Recognition of this systemic disorder by the ophthalmologist may minimize systemic and ocular complications.

Asthma↗
PubMedDate not supplied

Natural history of vascular dementia.

Knowledge about the natural history of vascular dementia (VaD) provides one context for assessing efficacy in pharmacological drug trials. We reviewed the literature for original studies reporting either (a) duration of survival or (b) cognitive status following a diagnosis of multi-infarct dementia (MID). Among 13 papers (combined sample size = 470; mean duration of follow-up = 4.3 years), survival was significantly shorter following a clinical diagnosis of MID compared with Alzheimer disease (AD). Nine studies (combined sample size = 175; mean duration of follow-up = 2.9 years) reported at least two mental status scores separated by at least 1 year. Among four studies using the Mini-Mental State Examination, no consistent differences in annualized rate of decline could be observed for MID compared with AD. Also, no factors were identified that predict rate of decline. This review reveals many limitations in our current knowledge about the natural history of VaD. Understanding would be enhanced by multinational harmonization of definitions for study entry point, diagnosis of VaD, classification of subtypes, as well as cognitive, functional, and behavioral endpoints.

Cognition Disorders↗