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Biomedical subjects

J D Murken

Publications and source records attributed to J D Murken.

At least 37 records · Page 2Linked to original sources
PubMed1977

[Anhidrotic ectodermal dysplasia--Identification of heterocygote (carrier) females (author's transl)].

We report on a newborn male infant suffering from anhidrotic ectodermal dysplasia. This x-linked recesive disorder has a high letality during the first year of life. Survivors are psychologically grossly impaired. This necessitates identification of carrier females. Characteristics of heterocygotes (e.g. palmar ridge flattening, paucety of pores, dermoglyphic pattern) are described. In pregnancy amniocentesis and chromosome analysis for sex determination are to be recommended.

Adult↗
PubMed1976

[The chromosome bands. Significance for clinical and cytogenetic research (author's transl)].

The methods of performing chromosomal investigations have been fundamentally changed in the last few years through the discovery of differential staining methods. While only a rough classification of the chromosomes into single groups could be carried out earlier, it is now possible to identify every individual pair of chromosomes on the basis of a typical pattern of bands. By means of these banding techniques smaller chromosomal variations can be recognized which were overlooked earlier and which have led to the delineation of new chromosomal malformation syndromes. In the present work, the modern methods of chromosome analysis are reviewed. Examples from clinical diagnosis show the necessity of using these techniques.

Abnormalities, Multiple↗
PubMed1976

Hemoglobin chain synthesis in two children with trisomy 13. Evidence for temporary imbalance during switch from gamma to beta chain synthesis.

Hemoglobin chain synthesis was studied in 2 infants with trisomy 13, one in the newborn period, the other at 5 months of age. The relative rate of beta globin synthesis was much below normal in the newborn, resulting in an overall imbalance of nonalpha/alpha globin synthesis. In the 5-month-old child, globin synthesis was balanced, although gamma globin synthesis accounted for a larger than normal percentage of nonalpha globin synthesis. Thus, the presence of a third 13 chromosome causes sever disturbances in the gamma to beta switch mechanism primarily affecting the onset of beta globin synthesis. The appearance of two previously unobserved bands in isoelectric focusing gels of the newborn's Hb is suggestive of the presence of embryonic hemoglobins.

Chromosomes, Human, 13-15↗
PubMed1976

Genetic counselling in cases of anal and rectal atresia.

The familial occurrence of anal and rectal atresia is investigated in literature including a material of 169 patients of children's hospitals in Munich. Positive family history was found for only one of 169 patients. The mode of inheritance in those families with more than one affected member is generally considered to be autosomal recessive, although several families with X-chromosomal recessive inheritance have been described. In approximately 50% of the cases, anal atresia is associated with other malformations. Twin studies indicate that genetic factors play only a minor role in the etiology. The genetic risk in cases of isolated anorectal atresia is estimated to be well below 1%.

Anal Canal↗
PubMed1975

[Prenatal diagnosis of Sandhoff's disease (GM2-gangliosidosis, type 2)].

The diagnosis of GM2-gangliosidosis type 2 (Sandhoff's disease) was made prenatally (23rd week of pregnancy) by amniocentsis. A sibling with "Tay-Sachs disease" had died shortly before. Severe deficiency of total beta-hexosaminidase was found in amniotic fluid and amnion-cell culture. After interruption of the pregnancy the enzyme defect was also found in the fetal brain tissue and the concentration of ganglioside GM2 was three times normal, confirming the diagnosis.

Amniocentesis↗
PubMed1975

[Subacute necrotizing encephalomyelopathy (Leigh's disease) (author's transl)].

The characteristic neuropathological features of subacute necrotizing encephalomyelopathy (Leigh), their histology and distribution are described. Clinical findings are unspecific. Impairment of feeding. vomitus, respiratory abnormality, retardation of psychomotor development, familial incidence and onset in early childhood are prominent symptoms. Atactic and athetoid movements, optic atrophy, oculomotor abnormalities are observed in most cases. An enzyme inhibitor excreted in the urine seems to be related to an inborn error of thiamine dependent metabolism in brain tissue. Treatment with thiamine derivatives may have a beneficial effect on the clinical course.

Age Factors↗