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Biomedical subjects

J Morissette

Publications and source records attributed to J Morissette.

At least 55 records · Page 3Linked to original sources
PubMed1990

A craniometric study of the C. de Lange syndrome (CdLS).

After a short review of our method, we compared the results of the radiographs of 18 cases of CdLS to the results of our normal material. All of our normal statistical data was obtained from AP and lateral view radiographs at a distance of 1 m, in the prevailing conditions of everyday practice in a radiological department. We studied quantitative changes such as microcephaly and brachycephaly, and for the first time we introduced qualitative changes such as occipital rotation and the study of obliquity of the foramen magnum (line BAO). We found microcephaly in all our cases of CdLS and brachycephaly in only 72%. Furthermore, we found a lack of positive occipital rotation in all our cases of CdLS and the line BAO turned posteriorly with O higher than BA. The same conditions were observed on our normal material only in an early postnatal stage.

Cephalometry↗
PubMed1990

Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.

Fluorometric quantitative tyrosine determination on dried-blood spots is the primary neonatal screening test used for tyrosinemia type I (HT) in the province of Quebec. Succinylacetone determination on these same spots is used as the complementary test when the tyrosine level is higher than a given threshold. This procedure has proved to be less discriminant over the past few years because of changes in newborn feeding and because of early discharge of newborns from the nursery. We have developed an enzyme-linked immunosorbent assay (ELISA) to measure the deficient enzyme in HT in dried-blood spots. Fumarylacetoacetase (FAH) (E.C.3.7.1.2) was measured retrospectively by an ELISA on 25 dried-blood samples from proven patients with HT and prospectively in 72,000 specimens received in the neonatal screening program. In this pilot project, FAH was measured first, and, if necessary, succinylacetone was determined as the complementary test. All 25 samples from proven patients and specimens from four other patients detected in the pilot study have shown almost complete absence of FAH in dried-blood samples. At a cutoff level of 12.5% of normal adult blood spotted on the same type of paper, only 30 other cases disclosed FAH levels low enough to warrant succinylacetone measurement but had no detectable succinylacetone. The false-positive rate is thus 1:2,400 with this primary ELISA. However, blood transfusion in newborns prior to blood collection on filter paper may yield false-negative tests, since FAH is present in erythrocytes of normal donors.(ABSTRACT TRUNCATED AT 250 WORDS)

Amino Acid Metabolism, Inborn Errors↗
PubMed1989

Hypertriglyceridemia and lower LDL cholesterol concentration in relation to apolipoprotein E phenotypes in myotonic dystrophy.

Plasma lipid, lipoprotein levels and apolipoprotein apo E phenotypes were determined in 70 patients with myotonic dystrophy (MyD) and 81 controls. Marked differences were noticed in the apo E phenotype frequencies between the two groups. Plasma triglycerides and VLDL cholesterol were higher in MyD than controls, but only the latter was related to differences in the apo E phenotypes between two groups. Accordingly, the ratio of VLDL cholesterol/plasma triglycerides was increased significantly in MyD, suggesting accumulation of intermediary density particles due to lower affinity of E2 containing lipoproteins for lipoprotein cell receptors. The LDL cholesterol concentration was lower in MyD than controls and was related to differences in the apo E phenotype frequencies between the two groups. These results indicate increased removal of LDL particles in the apo E2 phenotypes, perhaps due to upregulation of LDL (B, E) receptor activity. Plasma cholesterol and HDL cholesterol concentrations were similar in both groups. Another feature of the study was lower levels of plasma cholesterol, triglycerides, VLDL and LDL cholesterol in the homozygous E4:E4 phenotype. These results suggest increased clearance rate of both VLDL and LDL particles and support the concept that apo E4-containing lipoproteins have higher in vivo affinity for ape E and/or B, E receptors.

Adolescent↗
PubMed1989

Myotonic dystrophy: linkage with apolipoprotein E and estimation of the gene carrier status with genetic markers.

The genes for myotonic dystrophy (MD) and for apolipoprotein E (ApoE) belong to a chromosome 19 synthenic group of markers. A familial linkage analysis between MD and ApoE was performed using the J Ott LIPED program (IBM PC/XT, April 1984) to estimate the genetic distance between these 2 genes. Of a total of 136 individuals in 11 MD families, 81 were confirmed to be affected by the disease and 41 were asymptomatic. ApoE phenotypes were determined in 115 of these 122 individuals. No recombinant was observed out of 74 meioses which were informatives for both MD and the ApoE isoproteins. A global maximal lod score Z of 19.00 was obtained at the recombination fraction theta = 0. The upper theta value at the confidence interval corresponding to the peak lod score (Z max) - 1 was 0.03. This suggests that the loci for MD and ApoE are at a distance of 0 to 0.03 Morgan. Since ApoE and apolipoprotein C2 (ApoC2) have been shown by others to be about 40 kb apart, our data are therefore consistent with the distance estimate of 0.02 Morgan reported between MD and ApoC2. The D19S19 (LDR152) polymorphic DNA sequence is also tightly linked to MD on chromosome 19. The segregation of ApoE isoproteins and of ApoC2 and D19S19 DNA polymorphism was utilized for evaluating the probability for individuals at risk of inheriting the disease gene in MD families. Data are presented on 3 families to emphasize the usefulness of genetic markers to estimate the MD gene carrier status of asymptomatic individuals and also for those presenting a partial syndrome. The limitations of such approach are also discussed.

Apolipoproteins E↗
PubMed1988

Useful parameters to predict the eventual mental outcome of hypothyroid children.

The Quebec Network for Genetic Medicine has followed the development of some 100 hypothyroid children treated by 1 month of age and evaluated at 18 months, 3 and 5 yr and the Griffiths Mental Development Scales, then at 7 and 9 yr with the Wechsler Intelligence Scale for Children Revised. Results show that the children as a group reach scores within the normal range of the tests. However, a few patients have low scores at each evaluation. Previously, we showed a correlation between a low serum thyroxine concentration, or a relatively retarded bone maturation before treatment, and low mental scores. To better characterize the significance of this relationship we correlated these pretreatment factors and the Wechsler Intelligence Scale for Children Revised results of 43 subjects reaching the age of 7 yr. Again, the same correlation was observed. Calculating a predictive factor (low thyroxine, less than 2 micrograms/dl and retarded bone surface, less than 0.05 cm2) from data recorded before therapy initiation, 10 of 13 children were correctly predicted to have I.Q. values less than 90. The use of these parameters might permit early intervention, and allow specific guidance of the more affected subjects.

Bone Development↗
PubMed1987

[The distribution of surnames in the Saguenay and Charlevoix regions as indicators of population structure in the nineteenth and twentieth centuries].

"This paper presents a statistical analysis of surnames, revealing a striking similarity between the Saguenay and Charlevoix regions in the province of Quebec, since the 19th century. Indeed, a migration study also shows that the former region was created in the 1840's by immigrants coming mostly from the latter. An analysis by decade also shows that the Saguenay population structure has remained relatively stable since the middle of the 19th century. It is suggested that this kind of surnames analysis may be a useful indicator not only of the dynamics of a population, but also of the evolution of the whole gene pool. It seems however to reflect very poorly the movement or diffusion of any deleterious gene in particular." (SUMMARY IN ENG AND SPA)

Americas↗
PubMed1986

Auditory brainstem response audiometry in congenitally hypothyroid children under early replacement therapy.

Using auditory brainstem response audiometry, we evaluated 34 congenital hypothyroidism children under thyroid hormone therapy and 24 age- and sex-matched controls between 5 and 12 yr of age. Two main auditory brainstem response abnormalities were encountered: first, prolonged wave I latencies, secondary to a peripheral impairment, were found in seven congenital hypothyroidism children (20%): three of these showed signs of serious otitis media, unilaterally in two and bilaterally in the other, at the time of the evaluation. Second, shortened I-V interpeak latencies were observed in 10 children (29%). No correlation was found between the interpeak latencies and the L-thyroxine serum values at the time of the test or just prior to treatment initiation. Also, there was no correlation with estimated bone age at treatment initiation or with the Griffiths global mental development quotients assessed at 5 yr of age. These preliminary results suggest a significant incidence of auditory brainstem response abnormalities in treated hypothyroid children.

Audiometry↗
PubMed1986

Natural evolution of thyrotropin and thyroid hormones concentrations in hypothyroid newborns with thyroid agenesis or ectopy during the first month of life.

Thyroid hormones and thyrotropin concentrations obtained by different screening programs at different times after birth were pooled to study their natural evolution in congenitally hypothyroid newborns with thyroid ectopy or agenesis. In filter paper blood spots, the T4 concentrations were higher in the group with thyroid ectopy whereas it was the opposite for the TSH values. Serum T4 decreased progressively in cases of thyroid agenesis. In ectopy, serum T4 remained stable after 2 weeks whereas the T3 concentration increased into the normal range. Thus, even at five weeks of age, the T4 levels of infants with ectopic thyroid are still in the hypothyroid range despite thyrotropin overstimulation.

Aging↗
PubMed1985

HLA system, body fat and fat distribution in children and adults.

The association between the genotypes and the alleles at the A, B or C locus of the HLA system and body fat was studied in a total of 1578 individuals subdivided in four cohorts: adult males (n greater than or equal to 204), adult females (n greater than or equal to 184), boys and male adolescents (n greater than or equal to 282), and girls and female adolescents (n greater than or equal to 257). None of these subjects were grossly obese or had known metabolic disorders. Percent body fat from underwater weighing, subcutaneous fat from 6 skinfold measurements, trunk fat (3 skinfolds) and extremity fat (3 skinfolds) were considered in the analysis. Although a few significant associations were encountered, the lack of consistency across samples suggested that they were probably random and biologically not meaningful. The same negative findings were found for the ratio of trunk subcutaneous fat to extremity subcutaneous fat and the ratio of subcutaneous fat (6 skinfolds) to total fat mass. Earlier reports indicating a significant association between high body fat content and antigens B18, Bw35 or Cw4 were not supported by the results of this study. It was concluded that no consistent pattern of association emerged between genotypes or alleles of the HLA system and percent body fat, subcutaneous fat or fat distribution in children and adults of both sexes.

ABO Blood-Group System↗
PubMed1983

Preliminary results on the mental development of hypothyroid infants detected by the Quebec Screening Program.

A prospective study of the mental development of hypothyroid infants detected by the Quebec Network for Genetic Medicine began in January, 1976. The mean age at initiation of thyroid hormone therapy was 27 days. Forty-five hypothyroid infants and 37 normal control subjects were assessed at age 12 months with the Griffiths mental development test; 77 and 41, respectively, were assessed at age 18 months, and 59 and 40, respectively, at 36 months. There were no statistically significant differences in the various test scores between the two populations at age 12 months, but at age 18 and 36 months the hypothyroid infants had lower scores in hearing-speech performance scales and practical reasoning (36 months) which also decreased their global quotient. The mean scores were still above 100 and only nine were below 85. Further assessment of the influence of early therapy on mental development at age 6 years is needed before definitive statements can be made about the long-term mental development in these subjects.

Child, Preschool↗
PubMed1983

Higher sensitivity of primary thyrotropin in screening for congenital hypothyroidism: a myth?

We have simultaneously measured T4 and TSH concentrations from 93,000 consecutive filter paper blood samples received by the Quebec network for Genetic Medicine. T4 was measured using the Micromedic Automated System and TSH was measured by RIA kits from Pharmacia and Becton Dickinson, each for a 6-month period. Statistical analyses to assess quality control parameters for the various methods revealed that the T4 assay had greater precision and reproducibility than either of the 2 commercially available TSH kits. The number of false negative results was similar for both methods. Eight infants with ectopic thyroid glands were correctly detected by the T4 method. One infant with secondary hypothyroidism was detected by the T4 approach and missed by the TSH methodology. Three infants overall would have been missed using either the T4 or TSH approach. These data indicate that primary T4 screening has similar sensitivity compared to TSH kits for mass screening programs for congenital hypothyroidism.

Congenital Hypothyroidism↗
PubMed1983

Psoriatic arthritis: risk factors for patients with psoriasis - a study based on histocompatibility antigen frequencies.

Histocompatibility antigen frequencies were studied in a group of 100 patients with psoriatic arthritis (PSA) and were compared to a group of 80 patients whose psoriasis was restricted to skin lesions (PSC). The antigens B13, BW57 (17), CW6 were significantly increased in PSC while BW57 (17), BW39, CW6 and CW7 were increased in PSA. No DR or MT antigen was elevated in frequency when compared to normal controls. The significant information which results from this study includes: 1) a failure to confirm previous reports on HLA-DR antigen increased frequencies; 2) an association, in this population, of BW39 with PSA and not BW38; 3) finding of a closer link of PSC and PSA with HLA-C rather than HLA-B antigens; 4) an estimate of relative risk for patients with PSC to develop PSA.

Adolescent↗
PubMed1982

Prevention of mental retardation in offspring of hyperphenylalaninemic mothers.

Maternal hyperphenylalaninemia constitutes a potential hazard to the fetus for whom the risks of postnatal mental retardation, microcephaly, and congenital malformations are elevated. Preconception and intragestational dietary treatment can apparently improve the outcome of such pregnancies. In the absence of predictive mechanisms for pregnancies at risk and preventive measures involving reproductive counseling and treatment, there could be a rebound in the population frequency of mental retardation related to disorders of phenylalanine metabolism in subsequent generations. We describe a program serving a population of six million that includes screening, diagnosis, treatment, and counseling of the hyperphenylalaninemias. The program has recently added a simple dedicated register for males and females with hyperphenylalaninemia to supplement traditional methods for continuous surveillance of probands. We registered 153 patients: 43 females and 56 males with phenylketonuria, 23 females and 31 males with benign hyperphenylalaninemia, of which 22, 7, 27 and 5, respectively, had reached their 12th birthday in an 1981. Regional centers in the program provided counseling about the consequences of maternal hyperphenylalaninemia and the options to prevent them. No family has rejected the principle or fact of the Register and its goals.

Adolescent↗