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Biomedical subjects

H Costeff

Publications and source records attributed to H Costeff.

50 records · Page 3Linked to original sources
PubMed1980

Consanguinity analysis of congenital deafness in Northern Israel.

Consanguinity analysis of heterogeneous populations was performed on a group of 82 Israeli Jewish families with congenitally deaf probands, including 37 multiplex families with normal parents, 10 multiplex families with deaf parents, and 35 simplex families with deafness of unknown cause. Representative gene frequency was estimated as .0198, with two to four major gene loci per ethnic group. In both the simplex families and those with deaf parents, the only significant etiology found was homozygosity for pathologic recessive genes. Comparison of these findings in Israeli isolates with those in panmictic populations seems to imply that the genetic loci are not identical in the various isolates.

Chromosome Mapping↗
PubMed1977

Consanguinity analysis in heterogeneous populations.

Consanguinity analysis can be performed in populations comprising collections of genetic isolates, and the resulting estimates can be valid and useful in phenotypes caused by numerous recessive genes, such as mental retardation and congenital nerve deafness. Maximum likelihood methods are presented for estimating gene frequency and proportions of homozygous cases of morbid phenotypes in such populations.

Consanguinity↗
PubMed1977

Consanguinity analysis in Israeli mental retardates.

Consanguinity rates were analyzed in 904 families of retardates studied in 11 Israeli Jewish ethnic groups. It was estimated that the representative recessive gene frequency is .00518, implying that a gene equilibrium maintained by mutation alone is improbable and that some other hypothesis should be considered. The proportions of homozygotes among the following idiopathic subgroups are estimated as follows: 18%-19% homozygotes among severe idiopathic retardates with nonconsanguineous parents and no affected siblings; 74%-76% homozygotes among severe idiopathic retardates with first-cousin parents and no affected siblings; 5% homozygotes among mild idiopathic and idiopathic-familial retardates with nonconsanguineous parents; and 41% homozygotes among mild idiopathic and idiopathic-familial retardates with first-cousin parents. The estimated number of major gene loci within ethnic groups is 17-21 for severe idiopathic retardation and 43-61 for mild idiopathic retardation. These findings provide a basis for genetic counseling of families with single retardates of unknown cause. They can also be useful in epidemiologic studies of nongenetic factors. The great prevalence of common gene defects causing retardation, coupled with the rarity of disorders of amino acid metabolism in the same series, seem to indicate that further emphasis on amino acid metabolism may be nonproductive in the scientific study of retardation and that other biochemical approaches should be encouraged.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Multiple syndromes of 3-methylglutaconic aciduria.

The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (notably brain and cardiac muscle) are most often affected and in some the primary defect may reside within the mitochondrial respiratory chain. Although increasing biochemical evidence suggests that 3-methylglutaconic aciduria may correlate with deranged mitochondrial energy metabolism, the biochemical origin of 3-methylglutaconic acid and the significance of its increased excretion remain unknown. This review describes these syndromes and illustrates the necessity of urinary organic acid analysis to assist in the differential diagnosis.

Brain Diseases, Metabolic↗
PubMedDate not supplied

Severe behavioural disturbance in families of patients with prolonged coma.

This paper describes the psychological dynamics among family members of patients with prolonged coma. We discuss the conflicts these families meet and how they affect their interpersonal relationships. Special focus is placed on overt and covert aggression towards the attending staff, an issue that has not received much attention. The unconscious motives underlying these overt aggressive behaviours are described, with an emphasis on how projective mechanisms come into play. We suggest a partial solution to be implemented in units treating these kinds of patients.

Adult↗
PubMedDate not supplied

Practice of prophylactic anticonvulsant treatment in head injury.

The policy of patient selection for prophylactic anticonvulsant treatment has been evaluated retrospectively in 124 head-injured patients admitted consecutively for rehabilitation after primary neurosurgical treatment. Prophylaxis had been instituted in about 60% (51/83) of high risk patients and in about 30% (12/41) of the patients who did not belong to the high risk categories. The use of existing risk data as guidelines for decisions about anticonvulsant prophylaxis is discussed.

Adolescent↗
PubMedDate not supplied

Epidemiological findings in traumatic post-comatose unawareness.

We have examined the epidemiological background of 134 consecutive patients admitted to our centre who suffered from post-traumatic unconsciousness of over 1 month's duration. The incidence of such unconsciousness in Israel is estimated as 4 per 1,000,000, or one case in 410 hospitalizations for head trauma. The cause of trauma was a road accident in 69% of cases. Among victims, pedestrians and cyclists were more likely than four-wheeled vehicle drivers and their passengers to suffer from prolonged unconsciousness, from which they were less likely to recover.

Accidents, Traffic↗