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Biomedical subjects

H Moser

Publications and source records attributed to H Moser.

At least 145 records · Page 8Linked to original sources
PubMed1979

The effect of 1-beta-D-arabinofuranosylthymine on the growth of herpes simplex virus types 1 and 2.

The influence of araT on the synthesis of HSV of types 1 and 2 including a TK(--) variant, on the activity of the dThd and the dCyd kinases and on the incorporation of radioactivity into insoluble or soluble material after infection was studied. AraT inhibited different parameters of the replication of a TK(--) variant; it is possibly phosphorylated by enzymes other than the deoxypyrimidine kinase and therefore it is less selectively phosphorylated than dThd. The mode of action of araT on herpes replication must be studied in more detail.

Animals↗
PubMed1977

[Eugenic significance of linkage between the gene loci for dystrophia myotonica (Steiner's disease) and ABH-secretor].

36 relatives of 2 patients with myotonic dystrophy (M.d.) were investigated during a field study. All were neurologically examined at home and their ABO blood groups and ABH-secretor phenotypes in parotid saliva were determined for linkage analyses. Additional investigations such as EMG or slit-lamp examinations were carried out by specialists in doubtful cases. Nine additional patients presenting with varying clinical manifestations of M.d. were found. In most of the secretor-positive individuals the corresponding genotypes could be identified as heterozygotes (Sese) through the segregation pattern of their first-degree relatives. In both families the allele for M.d. was linked to the dominant allele Se, the probability being greater than 99%. A recombination was observed in 1 patient of either family. This is, however, fairly consistent with the expected recombination fraction of 0.08. No further linkage information was obtained from determinations of the Lutheran blood groups carried out in family no. 1 only, since all individuals were of the most frequent type Lu (a-/b+). In 5 out of 8 matings between M.d. patients and healthy spouses the secretor genoypes were potentially informative for the estimation of risk of their children being affected or for prenatal diagnoses. The secretor analyses and special tests for the detection of preclinical cases (e.g. by slit-lamp) and their practical value for genetic counseling are discussed, especially with regard to the limitations, which derive partly from low probabilities in the predictions even in some of the so-called informative matings, and partly also from the recombinations to be expected.

ABO Blood-Group System↗
PubMed1977

[Morbidity and mortality in cystic fibrosis. Results of 20 years of experience].

In this study the clinical data and treatment concept in 197 patients with cystic fibrosis, seen during the past 20 years at the University Children's Hospital of Berne (Switzerland), are presented. The results showed that during recent years the median age of survival, the mean age at death and the cumulative survival rates have improved. Furthermore, this study demonstrates that by forming groups of patients with similar age at diagnosis the cumulative survival rate declined in the group with early diagnosis much more markedly than in the group of patients with later diagnosis. Further evaluation of these data revealed that most patients of the former group had a more severe form of cystic fibrosis than the latter group. Since there are different patterns of severity in this disease, it will be necessary to develop staging for the purpose of statistical comparisons.

Adolescent↗
PubMed1977

Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. Findings common to both and typical for this chromosome aberration include a narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus, broad root, and short upturned tip of thenose, carp mouth, receding chin, misshapen ears, simian creases, and severe mental retardation. In addition, one patient had pyloric stenosis and an inguinal hernia. Growth retardation and microcephaly were not found in either of them. The karyotypes revealed de novo-deletions of the long arm of one chromosome 11,del(11)(q23).

Abnormalities, Multiple↗
PubMed1976

Thyroid cancer: a study of 573 thyroid tumors and 161 autopsy cases observed over a thirty-year period.

Five hundred and seventy-three thyroid tumors from surgical material and 161 autopsy cases were studied as to incidence, types, and precursor changes using the new WHO-classification. In the surgical material 225 tumors were follicular, 145 papillary, 147 anaplastic, 23 squamous cell, and 10 medullary. Twenty-three sarcomas were found. tthe percentage of follicular carcinoma had decreased, whereas that of papillary carcinoma increased and that of anaplastic carcinoma remained constant. In over 50% of anaplastic carcinomas neoplastic follicular structures have been identified. As a rule the more sections are prepared, the more papillary carcinomas and the less sarcomas are diagnosed. Thyroid tumors leading to death were found in 0.33% of 53,134 consecutive autopsies. Anaplastic (52.3%) and follicular (33.5%) carcinoma were most frequently encountered. Metastases of follicular and anaplastic carcinoma were most often found in the lung, pleura, and bones, whereas lymph nodes of the neck, lung, and bones were predominantly involved in cases of the papillary type. Therapy of thyroid carcinoma is total thyroidectomy. The transition of follicular carcinoma to the anaplastic type has to be avoided whenever possible.

Adenocarcinoma↗