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Biomedical subjects

M Frydman

Publications and source records attributed to M Frydman.

At least 127 records · Page 7Linked to original sources
PubMed1984

Trigonocephaly: a new familial syndrome.

Trigonocephaly was found in six relatives through three generations of one family. The propositus was ascertained at birth because of omphalocele. In addition to trigonocephaly, he had minor ear, vertebral, and genital abnormalities. His father had mild microcephaly, and both had minor eye abnormalities. None of the other four affected individuals had any other malformations. In this family, trigonocephaly is an autosomal dominant trait. The ratio of affected males to affected females was 5 to 1, and although the paucity of affected females is not statistically significant, we speculate that it may reflect variable expressivity or sex limitation of the trait. We conclude that the condition in this family represents a unique syndrome in which trigonocephaly is not associated with functional brain abnormalities and where craniosynostosis is limited to the metopic region.

Adult↗
PubMed1984

Myocarditis and acute infantile hemiparesis. Case report.

A 13-month-old infant developed acute hemiparesis in the course of myocarditis. Cranial CT suggested occlusion of the right middle cerebral artery, and it is believed that an embolus arising from a mural thrombus is the most likely cause of the cerebral vascular accident. Anticoagulant therapy should be considered in myocarditis when myocardial ischemic damage or an intracavitary thrombus are suspected.

Cerebral Infarction↗
PubMed1983

Chromosome Abnormalities in infants with prune belly anomaly: association with trisomy 18.

Two infants are described with "prune belly anomaly" (PBA) and concomitant trisomy 18. Severe abdominal distention was detected prenatally in one by ultrasonographic study, and in the second child at birth. Other chromosome abnormalities previously associated with PBA also are reviewed. The prune belly anomaly constitutes a malformation sequence that is causally nonspecific and which may occur in diverse aneuploidy syndromes. Aneuploidy is important to detect in prenatally diagnosed cases in which intrauterine fetal treatment is being considered.

Chromosomes, Human, 16-18↗
PubMed1983

The personality pattern of patients with chronic peptic ulcer. A case-control study.

The personality assessment of 96 patients with gastric ulcer (GU) and 70 patients with duodenal ulcer (DU) was carried out using the Cattell Sixteen Personality Factor Questionnaire (16 PF). Two control groups were used; one group comprised community controls and the other patient controls--that is, patients with cholelithiasis. Three of the four personality characteristics that distinguished female GU and/or DU patients from controls--emotional instability, tension, and anxiety--and the two characteristics that distinguished male GU patients--low enthusiasm and low self-control--are components of neuroticism. Female GU patients in exacerbation resembled those in remission, and GU and DU patients had similar personality profiles. Although a distinct personality pattern has yet to be identified in peptic ulcer, the results of this study and others suggest that both GU and DU are associated with the personality abnormalities of anxiety and neuroticism.

Adult↗
PubMed1981

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.

Chromosome Banding↗
PubMed1979

Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

A patient with symptoms clinically resembling Edwards's syndrome is presented. Cranial asymmetry, thoracic and lumbar hemivertebrae, and an additional rib were the unusual features. The cytogenetic studies revealed the coexistence of three separate cell lines with 45,XY,--18/46,XY/47,XY,+18 complement.

Chromosomes, Human, 16-18↗
PubMedDate not supplied

Benign paroxysmal torticollis in infancy.

Benign paroxysmal torticollis in infancy is characterized by periods of torticollic posturing of the head. The onset of the episodes usually occurs during the first month of life and may recur at varying intervals until the age of 1-5 years. This appears to be a self-limited disorder. The follow-up of 7 patients with benign paroxysmal torticollis is presented.

Child, Preschool↗
PubMedDate not supplied

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.

The heterozygote frequency of Gaucher disease (GD) and Tay-Sachs disease (TSD) is distinctly high among Ashkenazi Jews (1:29 for TSD and 1:16 for GD). Two main theories have been suggested to explain this high occurrence: a founder effect with subsequent genetic drift, and a selective advantage of heterozygotes. We compared the frequency of the GD most common mutation (1226A-->G) among carriers of the common TSD mutation (+1277 TATC) with the frequency of this mutation in the general Ashkenazi population. The frequency of GD carriers among 308 TSD heterozygotes was 1:28 which is about half the expected (P = 0.03). These results indicate that carriers of both diseases do not possess additional evolutionary advantage over single mutation carriers. A reasonable interpretation of these findings is that one or both mutations have arisen relatively recently in different regions of Europe and have not yet reached genetic equilibrium.

DNA Mutational Analysis↗
PubMedDate not supplied

Genetic aspects of Wilson's disease.

Wilson's disease is an autosomal recessive, inborn error of copper metabolism. The basic defect is unknown but decreased biliary excretion of copper is associated with copper accumulation and damage to the liver, brain and other organs with variable clinical expression. The gene for the disease has been mapped to band 14.1-21.1 of the long arm of chromosome 13, and an increasing number of flanking DNA markers has become available in recent years. Family studies using these markers offer the first diagnostic tool which is independent of copper metabolism. This method has been applied successfully for carrier detection in siblings of patients and has the potential to be used for prenatal diagnosis. The results of linkage studies in families of different ethnic origins suggest that the disease is associated with a mutation at a single chromosomal region. The assignment of the gene to chromosome 13 and the availability of closely linked markers are the first steps towards cloning of the disease gene and eventually may lead to determination of the basic metabolic defect.

Chromosome Mapping↗