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Biomedical subjects

P Jacobsen

Publications and source records attributed to P Jacobsen.

At least 91 records · Page 5Linked to original sources
PubMed1982

Hydroxy- and amino-substituted piperidinecarboxylic acids as gamma-aminobutyric acid agonists and uptake inhibitors.

The syntheses of (3RS,4RS)-4-hydroxypiperidine-3-carboxylic acid (4), (3RS,5SR)-5-hydroxypiperidine-3-carboxylic acid (20), (3RS,4SR)-4-acetamidopiperidine-3-carboxylic acid (10), and (3RS,5SR)-5-acetamidopiperidine-3-carboxylic acid (18), related to the specific gamma-aminobutyric acid (GABA) uptake inhibitors (RS)-piperidine-3-carboxylic acid (nipecotic acid) and (3RS,4SR)-4-hydroxypiperidine-3-carboxylic acid (21), are described. Furthermore, (3RS,4SR)-3-hydroxypiperidine-4-carboxylic acid (14), related to the specific GABA agonist piperidine-4-carboxylic acid (isonipecotic acid), has been synthesized. The structures of 4, 10, 14, 18, and 20 have been established by 270-MHz 1H NMR spectroscopic analyses. The affinity of the compounds for the GABA receptors and for the neuronal (synaptosomal) GABA uptake system in vitro has been measured. Compound 14 interacts selectively with the GABA receptors but less effectively than isonipecotic acid and the cis-isomer 22. Compounds 4, 18, and 20 are inhibitors of the GABA uptake system, although much weaker than nipecotic acid and (3RS,4SR)-4-hydroxypiperidine-3-carboxylic acid (21). Compound 10 is inactive in both test systems.

Animals↗
PubMed1977

Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System.

A mentally retarded girl with a sporadically occurring B/F translocation was reexamined with new banding techniques. Chromosome material from the long arm of chromosome 4 was inserted into the long arm of chromosome 20. The segment 4q11 leads to q13 was lost. The formerly reported abnormal segregation of the Gc-system was verified. The localization of the Gc-locus on the lost segment cannot be ruled out.

Blood Group Antigens↗
PubMed1976

48, XXXY Klinefelter syndrome and nail-patella syndrome in the same child.

A patient is described who in addition to having the 48, XXXY Klinefelter syndrome has the autosomal dominant nail-patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found. Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one X chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted. The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.

Child, Preschool↗
PubMed1975

Trisomy 9p in a patient with a de novo 9/15 translocation.

Mental retardation, facial dysmorphism, hypertelorism, antimongoloid eye slants, epicanthus, globular nose, malformed ears, bone abnormalities, one flexion crease on 5th finger, simian crease, and speech difficulties with delayed expressivity were found in a girl with trisomy of the short arm of chromosome 9. The 9p+ syndrome was due to a sporadic translocation of the short arm of chromosome 9 onto the short arm of chromosome 15.

Child↗
PubMed1975

A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate.

A translocation of a part of the long arm of a chromosome No. 1 onto the long arm of a chromosome No. 6 was observed in a 2 1/2-year-old boy with mental retardation, harelip, cleft palate and congenital glaucoma. Different banding methods revealed that the translocation t(1;6)(q23;q27) apparently was balanced. The conncection between the patients' symptoms and the chromosomal rearrangement might be fortuitous or produced by the chromosome aberration.

Child, Preschool↗
PubMed1975

Coagulation studies in patients with trisomy 8 syndrome.

Coagulation studies were performed in three patients with trisomy for chromosome No. 8. In contrast to the findings reported by others, all patients were found to have a normal coagulation status without sign of factor VII deficiency.

Adolescent↗
PubMed1975

Translocation (13q21q). Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis.

A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13-21 and 13-15 associations in the great grandmother.

Amniocentesis↗