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At least 865 records · Page 48Linked to original sources
PubMed1998

Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.

Recently we identified a P408S, P415L allele of beta-glucuronidase in several Mexican patients with mucopolysaccharidosis type VII (Sly syndrome) and presented evidence that both mutations are required to produce the MPS VII allele (Islam et al., 1996). In an attempt to determine whether either of these mutations exists as a benign polymorphism among Mexicans, we developed a PCR method to screen simultaneously for both mutations and used it to screen a population sample of 187 Mexican individuals in the Guadalajara area, all from the north-western states of Mexico. Neither mutation was present in 374 alleles studied. In addition, we had the opportunity to carry out prenatal diagnosis in a fetus at risk for homozygosity for this MPS VII allele at the 15th week of gestation using enzymatic assays as well as by analysis of genomic DNA isolated from cultured amniotic fluid cells. The fetus was found to be heterozygous for the P408S, P415L allele. The newborn's heterozygosity was confirmed after birth by enzyme assays on plasma and leukocytes, and by analysis of DNA from leukocytes.

Alleles↗
PubMed1995

Characterization of gout in a skeletal population sample: presumptive diagnosis in a Micronesian population.

Characterization of the nature and skeletal distribution of gout was accomplished in a Chamoru (Chamorros) population with predilection to the disease. Uniform excavation by the gouty diathesis produces a punched-out appearance to these predominantly monarticular lesions. The lesion is distinct from that seen in rheumatoid arthritis, spondyloarthropathy, or infection. Reactive new bone formation in some gouty lesions also has an apparently unique, ivory-like discoloration (contrasted with the adjacent bone), which facilitates diagnosis.

Female↗
PubMed1989

Analysis of lymphoid population in scid mice; detection of a potential B lymphocyte progenitor population present at normal levels in scid mice by three color flow cytometry with B220 and S7.

We have used 3 color FACS analysis (together with dead cell exclusion by propidium iodide) to ascertain the levels of lymphoid lineage cells present in typical young adult (2-5 month) SCID mice. Both mature and early B and T lineage cells are severely decreased (greater than 100X) in thymus, spleen and peritoneum of such mice. Analysis revealed a significant fraction of B220+ cells in bone marrow and, curiously, all such cells co-expressed a determinant recognized by the S7 antibody, likely lost early in B lineage differentiation. Thus, together with B220, expression of S7 may serve to mark the stage at which the SCID defect first becomes manifest, at least in the B lineage. This suggests that B220+/S7+ cells in bone marrow may be pro-B cells or even a lymphoid progenitor population.

Animals↗
PubMed1998

Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?

Lack of monoamine oxidase A (MAO-A) due to either Xp chromosomal deletions or alterations in the coding sequence of the gene for this enzyme are associated with marked changes in monoamine metabolism and appear to be associated with variable cognitive deficits and behavioral changes in humans and in transgenic mice. In mice, some of the most marked behavioral changes are ameliorated by pharmacologically-induced reductions in serotonin synthesis during early development, raising the question of possible therapeutic interventions in humans with MAO deficiency states. At the present time, only one multi-generational family and a few other individuals with marked MAO-A deficiency states have been identified and studied in detail. Although MAO deficiency states associated with Xp chromosomal deletions were identified by distinct symptoms (including blindness in infancy) produced by the contiguous Norrie disease gene, the primarily behavioral phenotype of individuals with the MAO mutation is less obvious. This paper reports a sequential research design and preliminary results from screening several hundred volunteers in the general population and from putative high-risk groups for possible MAO deficiency states. These preliminary results suggest that marked MAO deficiency states are very rare.

Adolescent↗
PubMed1980

Necator americanus: population structure, distribution, and fluctuations in population densities of infective larvae in contaminated farmlands.

Observations have been made over a 15-month period on the frequency distribution of human faecal deposits and infective larvae of Necator americanus in a hookworm endemic area. The agestructure of infective larvae in a field population and their vertical distribution in soils were determined. These studies were undertaken to examine the hypothesis that hookworm transmission in the tropics is discontinuous and limited mainly to the rainy season. The distribution of larvae was found to be overdispersed statistically and in general much greater numbers of L3s were recovered during the rainy season. The degree of overdispersion was also reduced during this season, and there was a tendency for larvae to be confined to the surface/topsoil. The implications of these findings have been discussed in relation to human hookworm parasitism in endemic areas of the tropics.

Animals↗
PubMed1996

Population genetic study of the AmpFLP system APO B in an Austrian population sample.

Allele frequencies of the AmpFLP system APO B were determined in an Austrian population sample consisting of 210 unrelated Caucasian individuals living in the Salzburg region. A total of 25 different alleles could be observed. The allele distributions were in accordance with Hardy-Weinberg equilibrium. No new mutations were found in 184 meioses and seven "interalleles" and four alleles < 29 could be detected.

Alleles↗
PubMed1996

Population studies of three AMPFLPs systems in a north Polish population.

Allele and phenotype frequencies for D1S80, D17S5 and ApoB were determined in a population sample of more than 200 unrelated persons from North Poland using the PCR method. For D1S80, D17S5 and ApoB 19, 13 and 21 alleles respectively were observed. No deviations from Hardy-Weinberg equilibrium were detected. All three systems have discrimination values above 92% and a cumulative discrimination index of 4.5 x 10(-4).

Alleles↗
PubMed2004

Understanding quality of life in patients with colorectal cancer: comparison of data from a randomised controlled trial, a population based cohort study and the norm reference population.

BACKGROUND AND AIMS: Quality of life (QoL) is an important outcome measure in clinical studies. However, there is little experience with the interpretation of QoL results. METHODS: To guide interpretation of QoL results from a randomised controlled trial (RCT) targeting the effectiveness of the immune modulator G-CSF on postoperative recovery in high risk (ASA III/IV) colorectal cancer patients, we compared RCT data with data from a population based cohort study and norm reference data. QoL was assessed using the European Organisation for the Research and Treatment of Cancer (EORTC) QLQ-C30 and CR38 questionnaires. QoL results were analysed on discharge from hospital and six months postoperatively. RESULTS: Colorectal cancer patients (both from the RCT and the cohort study) showed the greatest differences in QoL scores compared to norm reference data at discharge from hospital. Six months postoperatively, global quality of life and pain approximated norm reference values indicating optimal recovery. However, deficits still appeared in scores for role functioning, physical functioning, social functioning and fatigue. The best improvements (discharge from hospital to six months postoperatively) were seen with respect to physical functioning, fatigue and pain. CONCLUSIONS: For further analysis of RCT data, physical functioning and fatigue scores may be more sensitive than global quality of life to detect differences in treatment effects.

Adult↗