Search PubMed⌕ Search

Biomedical subjects

M R Hayden

Publications and source records attributed to M R Hayden.

At least 289 records · Page 16Linked to original sources
PubMed1986

Primary lipoprotein lipase deficiency.

The enzyme lipoprotein lipase plays a central role in the processing of energy in the form of calorically dense triglyceride. Classical LPL deficiency usually presents in childhood with the multiple manifestations related to chylomicronemia. Many patients with genetic variations have been noted who differ in one of many ways from the classical patients. With the development of techniques to measure enzyme mass and to study gene expression, the molecular defects in each of these families should become evident.

Adipose Tissue↗
PubMed1986

Regression model for predicting dissociations of regional cerebral glucose metabolism in individuals at risk for Huntington's disease.

This article describes and partially validates a method for predicting whether an observed regional metabolic value is consistent with the observed value of another region. A regression equation was generated from a set of normal metabolic values, and then this equation was applied to patients with symptomatic Huntington's disease and patients at risk for this disorder. The results of the regression method were consistent with observations of the absolute rate for the normal subjects and Huntington's patients. For the at-risk patients, 6 of 18 were found to have reduced caudate metabolism relative to observed thalamic values. Since the initial scan, one of these identified at-risk individuals has developed symptomatic Huntington's disease. The method may be appropriate for other disorders where there are potential subgroups (e.g., schizophrenia) within a diagnostic category.

Brain↗
PubMed1986

Positron emission tomography in the early diagnosis of Huntington's disease.

We studied 10 patients with early Huntington's disease and 7 normal age-matched controls with positron emission tomography (PET) using fluorodeoxyglucose. Subjects had little or no caudate nucleus atrophy and had not received any medications. The results demonstrated that hypometabolism of glucose preceded tissue loss. Furthermore, patients with minimal neurologic or psychiatric symptoms and no obvious CT changes may be differentiated from normal persons with high accuracy by PET. PET is helpful in the early diagnosis of Huntington's disease irrespective of the mode of presentation. PET may also be useful for preclinical detection and may supplement information from DNA studies.

Adolescent↗
PubMed1986

A family with Huntington disease and reciprocal translocation 4;5.

We report the clinical and cytogenetic findings in a family in which a balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 5 is segregating together with Huntington disease in 2 generations. In situ hybridization studies revealed that the linked human DNA marker is located on the short arm of the normal and translocated chromosome 4 in the region 4p16. The association between Huntington disease and the translocation in this family may represent a chance occurrence. However, it is also possible that there is an undetected rearrangement of DNA on chromosome 4 involving the gene for Huntington disease but not affecting the site of the linked marker. Finally, the likelihood that this represents heterogeneity cannot be excluded.

Adult↗
PubMed1986

Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3.

The linked DNA marker for Huntington disease has recently been mapped to the short arm of chromosome 4 by somatic cell hybridization studies. Southern blot analysis of DNA from patients with Wolf-Hirschhorn syndrome (WHS) has suggested that the linked marker maps within the terminal 4p16 band. We have now accomplished subregional assignment of G8 (D4S10) to 4p16.1-16.3 using in situ hybridization techniques on two patients with nonoverlapping interstitial deletions of 4p. The mapping of G8 (D4S10) to a region deleted in patients with WHS will allow the application of new strategies for detecting DNA sequences closer to the locus for Huntington disease.

Chromosome Banding↗
PubMed1985

Bilateral renal agenesis in twins.

We present the second report of like-sex twins concordantly affected with bilateral renal agenesis (BRA). Mode of inheritance is proposed to be autosomal dominant. Screening of first-degree relatives of the BRA proband by ultrasound of the GU system is recommended. Prenatal diagnosis with second-trimester ultrasound screening is recommended when a previous fetus has been affected by bilateral renal agenesis.

Adult↗
PubMed1985

Urinary proteins in a patient with Tangier disease.

We have investigated the possibility that the mild proteinuria in a patient with Tangier disease is directly related to the plasma HDL-deficiency through excretion of apolipoprotein A-I (Mr 28,300). An increased urinary excretion of a 29,000 polypeptide was observed in this patient. However, western blot analysis of the urine showed that this protein was not apolipoprotein A-1 or its precursor form. Subsequent investigations identified the urinary protein as immunoglobulin light chains. The elevated excretion may be a consequence of the patient's plasma polyclonal gammopathy which had resulted from a chronic infection.

Adult↗
PubMed1985

Age of onset in siblings of persons with juvenile Huntington disease.

The age of onset distribution of Huntington disease (HD) has been defined for siblings of patients who exhibit the disease before age 20. The mean age of onset for the siblings of juvenile onset cases is 26.8 years, which is significantly less than the mean age of onset (39.8) observed in siblings of non-juvenile cases. We have shown that the curve for age of onset in the general affected population is significantly different from that of the juvenile sibships. Furthermore, the significant regression equation suggests that the 'expected age of onset' of a sibling can be predicted from a knowledge of the age of onset of the juvenile proband. This information can be used to predict a range of age of onset for those sibs of juvenile patients who are likely to be asymptomatic heterozygotes with DNA polymorphism studies.

Adult↗
PubMed1982

Genetic aspects of Huntington's chorea: results of a national survey.

In a nationwide survey of South Africa we ascertained and investigated 157 persons with Huntington's chorea and collected data on a further 328 deceased individuals who had probably been affected. Of the 157 respondents, 17 had a juvenile onset and in 13 of these the father had been the affected parent. Further analysis of these data shows that the father had transmitted the gene to 5 of the 6 children with onset in the first decade. The heterozygote frequency in the combined white population and the group of mixed ancestry is 6.7 X 10(-5) and the minimum number of heterozygotes is 458 in South Africa (1 in 13,000). The disorder is extremely rare in African Negroes; only 3 affected individuals were identified out of a population of 19 million.

Adolescent↗
PubMed1981

Huntington's chorea on the island of Mauritius.

The prevalence of Huntington's chorea in the population of European descent on the island of Mauritius is 1 in 2 166. All affected persons on the island are related and probably descend from a common ancestor who emigrated from France around 1800. In view of the large number of persons at risk, Huntington's chorea has important medical and social implications for the inhabitants of Mauritius.

Female↗
PubMed1980

The prevalence of Huntington's chorea in South Africa.

The results of a national investigation to determine the prevalence of Huntington's chorea in South Africa are presented. A total of 481 persons who have died from or are presently suffering from the disorder have been identified. The prevalence rate of 0,1 per million in the South African Negro population is much less than the estimate of 22 per million in the White and Coloured groups. It is apparent that the great variation in the ethnic distribution of the disease is a reflection of the diverse origins of the different population groups of South Africa.

Black People↗
PubMed1980

The origin of Huntington's chorea in the Afrikaner population of South Africa.

Huntington's chorea is prevalent among the Afrikaner population of South Africa. The origin of the gene for the disorder in this population group has been traced over 14 generations from the present time to the days of the first free burghers at the Cape of Good Hope. Over 200 affected individuals in more than 50 supposedly unrelated families have been found to be ancestrally related through a common progenitor in the 17th century.

Female↗
PubMed1980

Social perspectives in Huntington's chorea.

The social implications of Huntington's chorea are serious and far-reaching, affecting all members of the family and the community as a whole. The relativly common occurrence of suicide and of major and minor crimes are cause for concern. The disease imposes a significant economic burden on both the family and society. The minimum direct cost to the state of a single affected prson with Huntington's chorea in South Africa is estimated at R23 000.

Crime↗
PubMed1978

The fetal alcohol syndrome.

Two unrelated children with the fetal alcohol syndrome are described. Features of the syndrome include mental deficiency, growth delay, and craniofacial, limb and cardiac anomalies. The finding of this spectrum of abnormalities raises the possibility of alcohol ingestion during pregnancy. The deleterious effects of alcohol on the developing fetus are emphasized. In view of the high prevalence of alcoholism in this country the fetal syndrome must be regarded as a serious and preventable cause of morbidity.

Female↗
PubMed1977

Huntington's chorea in the Cape coloured community of South Africa.

Huntington's chorea is a grave genetic neurological disorder which appears to be a more serious problem in South Africa than has generally been recognized. The minimum prevalence of the disease in the Cape Coloured is 3,5/100 000 of the population. Sixteen per cent of patients were younger than 20 years at the time of onset of the disease. This is among the highest incidence of juvenile Huntington's chorea in the world. The gene for Huntington's chorea has been in South Africa for 300 years. It was first introduced into this country from Holland in the middle of the 17th century and then later from England in the middle and end of the 19th century. The number of affected individuals appears to be on the increase in South Africa. Unfortunately, at present, no methods are available for effective control of this disorder.

Adolescent↗