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Biomedical subjects

H Woodward

Publications and source records attributed to H Woodward.

12 recordsLinked to original sources
PubMed2000

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Tyrol (a region of northern Italy) with adult-onset, clinically typical tremor-dominant parkinsonism of apparently autosomal dominant inheritance. Haplotype analysis excluded linkage to the chromosome 2p, 4p, and 4q regions that harbor genes associated with autosomal dominant parkinsonism, but implicated the parkin locus on chromosome 6q. Compound heterozygous deletions in the parkin gene (one large and one truncating) were identified in 4 affected male siblings. The patients were clinically indistinguishable from most patients with idiopathic Parkinson's disease. None of them displayed any of the clinical hallmarks described in patients with previously reported parkin mutations, including diurnal fluctuations, benefit from sleep, foot dystonia, hyperreflexia, and early susceptibility to levodopa-induced dyskinesias. Two affected female individuals carried one (truncating) of the two deletions in a heterozygous state with an apparently normal allele. We conclude that the phenotypic spectrum associated with mutations in the parkin gene is broader than previously reported, suggesting that this gene may be important in the etiology of the more frequent late-onset typical Parkinson's disease.

Age of Onset↗
PubMed1999

Prediction of neurobehavioral outcome 1-5 years post pediatric traumatic head injury.

OBJECTIVE: To examine the neurobehavioral status of children with traumatic head injury (THI) and to identify variables that predict outcome. DESIGN: Retrospective chart review, with follow-up 1-5 years after injury. Outcome predictor variables were identified through stepwise regression analysis. SETTING: Level one trauma center and pediatric rehabilitation program. PATIENTS: 71 Children with THI, selected from a four-year series of consecutive admissions. MEASURE: Vineland Adaptive Behavior Scales-Survey Edition. RESULTS: Significant predictors of better neurobehavioral status at follow-up included absence of a premorbid learning problem (p <.01), older age at injury (p <.01), and normal pupillary response (p <.001) and higher cerebral perfusion pressure (p <.0001) during critical care management. CONCLUSIONS: Neurobehavioral outcome after THI is influenced by premorbid psychosocial variables as well as by critical care management.

Adaptation, Psychological↗
PubMed1982

Isolation, purification, and properties of respiratory mucus glycoproteins.

The major glycoprotein from human tracheobronchial secretions and from primary explant cultures of human tracheal epithelium has been purified to apparent homogeneity. Mucin was solubilized in buffer and fractionated on Sepharose CL-4B, followed by CsBr density gradient centrifugation of the void volume fraction. High- and low-density fractions were obtained in ratios ranging from 2:1 to 5:1. The high-density (1.46) fraction appeared homogeneous by exclusion chromatography and recentrifugation in CsBr and had an amino acid composition characteristic of a mucin-type structure (threonine, serine, proline, glycine, and alanine comprise two-thirds of the amino acid residues). The carbohydrate, which is nearly 80% by weight, was O-glycosidically linked via GalNAc, sulfated (5.4% by weight), and contained fucose, galactose, glucosamine, galactosamine, and sialic acid. The low-density fraction had an amino acid composition distinct from that of the high-density fraction (threonine, serine, proline, glycine, and alanine comprise 51% of the amino acid residues) and a lower sulfate content. The size distribution of the saccharides in the low-density fraction was similar to that of the high-density fraction; the same sugars were present although the ratios were different. The low-density fraction contained 3 times more noncovalently associated lipid than did the high-density fraction. Several distinct classes of lipids were identified. Neutral lipids (mono-, di-, and triglycerides, cholesterol, and cholesteryl esters) comprised 56% of weight of the total lipid. Glycolipids and phospholipids were also identified. Palmitate (16:0), stearate (18:0), and oleate (18:1) were the major fatty acids in all classes of lipids.

Bronchi↗