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Biomedical subjects

H Henderson

Publications and source records attributed to H Henderson.

31 records · Page 2Linked to original sources

Genealogy and regional distribution of lipoprotein lipase deficiency in French-Canadians of Quebec.

Lipoprotein lipase (LPL) deficiency, an autosomal recessive disorder causing chylomicronemia, has a high prevalence in the French-Canadian population of Quebec. The molecular basis of LPL deficiency has been defined, and two major mutations have been shown to have an uneven geographic distribution. Two mutations, one at residue 188 (M-188) and the other at residue 207 (M-207), are described here; they account for 95% of the mutant alleles. The carrier rate of M-188 was highest in western Quebec (1/326) but that of M-207 was much higher in the eastern part of the province (1/85). Genealogical reconstruction has revealed that both mutations were introduced to the French-Canadian population by migrants from France in the seventeenth century. M-188 is likely to have a Scottish ancestor, whereas M-207 appears to be of French origin.

France↗

Detection of cryptococcal antigen in bronchoalveolar lavage fluid: a prospective study of diagnostic utility.

Cryptococcal pneumonia is associated with significant morbidity and mortality in immunocompromised patients. We examined the utility of screening bronchoalveolar lavage (BAL) fluid for cryptococcal antigen. In a pilot study, we found that cryptococcal antigen was always positive in unprocessed BAL specimens of seven patients with cryptococcal pneumonia and negative in 44 patients with other granulomatous diseases who acted as the control subjects. A prospective study was done of 220 immunocompromised patients (188 with human immunodeficiency virus infection, 32 with other causes of immunosuppression) undergoing BAL for fever and pulmonary symptoms. The eventual diagnosis of cryptococcal pneumonia was made in eight patients. All eight patients had a cryptococcal antigen titer greater than or equal to 1:8. There were four patients without cryptococcal pneumonia who had cryptococcal antigen titers of 1:8, there were none with higher titers. For a titer of cryptococcal antigen titer of greater than or equal to 1:8, there was 100% sensitivity, 98% specificity, a positive predictive value of 67%, and a negative predictive value of 100%. The measurement of cryptococcal antigen in the BAL can be a rapid, simple way to make a diagnosis of cryptococcal pneumonia in immunosuppressed patients with pneumonia.

Acquired Immunodeficiency Syndrome↗

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.

Lipoprotein lipase (LPL) plays a crucial role in the regulation of lipoprotein metabolism by hydrolysing the core triglycerides of circulating chylomicrons and VLDL. Human, bovine, mouse, and guinea pig complementary DNA clones have recently been isolated and the organization of the human LPL gene is now known to comprise 10 exons spanning approximately 30 kb. Here we report a similar mutation on 21 alleles from 13 unrelated affected probands with LPL deficiency of French Canadian, English, Polish, German, Dutch, and East Indian ancestry. We show that an identical missense mutation within exon 5, resulting in an amino acid substitution of glutamic acid for glycine at position 188, is responsible for LPL deficiency in 21 of 88 LPL alleles assessed. This mutation alters an Ava II restriction site in exon 5 and will allow a rapid screening test for this mutation in patients with LPL deficiency. This mutation has occurred on the same haplotype in all the unrelated affected persons suggesting a common origin. The amino acid substitution lies within the longest segment of homology for LPL in different species and results in a protein that is catalytically defective.

Alleles↗

Implementation of a token economy by peer tutors to increase on-task physical activity time of autistic children.

The data generated in this study were graphed for visual inspection of the raw data and means. Of the 5 subjects, 4 improved their time on task on the balance beam in at least one of the intervention phases. The other subject did not improve during the intervention phases but, there was a positive slope in the final intervention phase which might have continued had the intervention been longer. Further study is required.

Attention↗

A Pascal program for weighted least squares regression on a microcomputer.

Weighted least-squares regression has been programmed in Pascal for a microcomputer. A double precision Pascal compiler and the Motorola 6809 assembler produce a fast machine-code program occupying 22,000 bytes of memory when appended to the Pascal run-time module. Large data sets fit in the remaining memory. A regression with 72 observations and 24 parameters runs in 7 min, excluding optional print out of large matrices. The maximum dimensions of the design matrix, X, can be altered by modifying two Pascal constants. Minor changes to the Pascal source program will make it compatible with other Pascal compilers. The program optionally orthogonalises the X matrix to detect linearly-dependent columns in X, and/or generate orthogonal parameter estimates. After orthogonalizing X and fitting the model, the parameter estimates for the original X can be retrieved by the program. Regressions on a repeatedly reduced model are performed through elimination of columns in X until the minimum adequate model is obtained.

Computers↗

A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of Hurler and Sanfilippo diseases.

A new and simple micromethod for the determination of individual glycosaminoglycan components in small volumes of amniotic fluid is described. Two-dimensional electrophoresis demonstrated an abnormal content of dermatan and heparan sulphates in amniotic fluid from pregnancies affected by Hurler disease (two at 14 weeks' and one at 16 weeks' gestation), and of heparan sulphate in amniotic fluid from pregnancies affected by Sanfilippo disease (16 and 25 weeks' gestation). Excellent discrimination between normal and affected pregnancies was provided by an estimation of the dermatan sulphate:chondroitin sulphate ratio (Hurler disease) and the heparan sulphate: chondroitin sulphate ratio (Sanfilippo disease); the use of external glycosaminoglycan standards was then unnecessary.

Adult↗

Prophylactic lincomycin in the prevention of wound infection following appendicectomy: a double blind study.

The prophylactic use of a single dose of lincomycin in 100 patients undergoing appendicectomy reduced the incidence of postoperative wound infection from 17 to 6 per cent compared with a similar group of control patients. There was no correlation with the histological finding in the appendix, but patients with perforated appendicitis were excluded from the study. Bacteriological examination of the appendix area before surgery showed that Bacteroides fragilis and Escherichia coli were the organisms most frequently isolated. The majority of wound infections were due to B. fragilis, either alone or in association with aerobic organisms, but infection due to E. coli and Staphylococcus aureus also occurred. Systemic antibiotic therapy can successfully reduce the complications following appendicectomy but it is necessary to use a compound with activity against anaerobic organisms.

Adolescent↗

More on mastitis.

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Anti-Bacterial Agents↗