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Biomedical subjects

W Schmid

Publications and source records attributed to W Schmid.

At least 19 recordsLinked to original sources
PubMed1979

Trisomy for the distal third of the long arm of chromosome 19 in brother and sister.

Trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of the eyes, hypertelorism, ptosis, short nose, short philtrum, poorly formed ears, short neck with excess skin, barrel-shaped thorax, diastasis of rectus muscles, kyphosis, sacral dimple, excess of digital arches, pedes valgi, laterally curved big toes, epilepsy and muscular hypotonia. The chromosomal anomaly was transmitted by the mother, who is the carrier of a translocation t(19;20)(19q133;20pter). In the pedigree, extending over four generations, among 30 pregnancies fathered or mothered by 5 carriers resulted in: 6 individuals with normal karyotype, 9 carriers, 2 confirmed and 2 presumptive unbalanced abnormal children, and 10 abortions.

Abnormalities, Multiple↗
PubMed1979

Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.

Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.

Abnormalities, Multiple↗
PubMed1979

The Sézary syndrome.

Symptoms of the Sézary syndrome are described in a case history. Sézary's syndrome is a lymphoproliferative process of the skin, which eventually develops into an erythrodermia. Strange lymphocytes with a cerebriform chromatin structure, often with T-cell characteristics, circulate in the blood stream. In few instances they are also found in lymphnodes and bone marrow. This primarily benign disease can become malignant, possibly due to an overaggressive cytostatic therapy. Besides the hitherto unknown endogenous causes, exogenous factors cannot be excluded.

Humans↗
PubMed1979

[Experiences with clindamycin in orthopedic surgery and traumatology].

60 cases of orthopedic surgery and traumatology were treated 64 times altogether with an average dose of clindamycin of 3 X 300 mg/day. 40 patients were given clindamycin as preventive treatment. 12 patients were treated for acute infections of the locomotor system and other 8 patients 12 times for chronic osteitis. In the group having received preventive trqatment, infection occurred bu 1 out of 40 patients. As to the 12 cases of acute infections, 10 recovered, 1 improved and 1 patient got worse. Concerning the 12 treatments of 8 patients with chronic osteitis, in 1 case the inactivation of the infection was obtained. 9 cases showed significant improvement whereas in 2 cases an aggravation was noticed. In 5 patients the following side effects occurred: 2 cases of allergic exanthema, 2 cases of mild diarrhoe and 1 case of pyrosis. This study shows that clindamycin is an antibiotic with a broad field of application in orthopedic surgery.

Abscess↗
PubMed1979

[The effect of subtotal vagotomy of the plexus myentericus (Auerbach) on the function of the intramural nervous system. A quantitative histochemical examination in white laboratory mice].

The effect of a subtotal vagotomy on the function of the intramural nervous system of different parts of the intestinal tract is studied by means of quantitative measurements of the acetylcholinesterase (AChE) activity. By sham vagotomy it was possible to explore the effect of narcosis and laparotomy on the intramural nervous system of the intestine. Vagotomy is followed by a decrease in AChE activity of the ganglionic cells in all parts of the intestinal tract. A minimum of activity, about 50% of the normal concentration, is attained at the 16th postoperative day. After this time, a continual increase in AChE activity, along with a reactivation of the function of the ganglionic cells, can be observed. 90 days after vagotomy the ganglionic cells of the intramural nervous plexus show a normal enzyme activity. These results support the hypothesis that most of the cells of the myenteric plexus build up an autonomic nervous plexus, which is stimulated in an excitatory way by the vagus nerve and which will be inhibited by sympathetic stimulation.

Acetylcholinesterase↗
PubMed1978

Centromere inactivation in a case of Turner variant with two dicentric iso-long arm Y chromosomes.

A 6-year-old girl of small stature and with some features of Turner's syndrome was found to have a karyotype with two-thirds of the cells possessing one, and one-third with two dicentric iso-long arm Y chromosomes. In metaphases with 46 chromosomes the majority of the abnormal Ys exhibited two primary constrictions. In cells with 47 chromosomes both isochromosomes prevalently had only one active centromere.

Centromere↗
PubMed1978

Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi's anemia, type Estren-Dameshek.

Fraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations. In blood cultures the incidence of chromatid breaks, exchanges, and chromosome-type aberrations was elevated to 24%, 18%, and 28%, respectively. In addition, in a low number of mitotic cells unusual observations, pointing to profound disturbances of chromosome structure, were made. It is suggested that these patients have a genetic defect impairing the normal process of mitotic chromosome condensation and decondensation.

Adolescent↗
PubMed1978

[Practical aspects of mutagenesis--today and later].

The struggle of medicine and biology with the phenomenon mutation is discussed from a philosophical (C. BRESCH: "Zwischenstufe Leben") and a practical point of view. In the beginning age of the intellectual evolution mutations have become a pruely negative relict of the declining phase of the biological evolution. Effective means of medical genetics suitable in reducing the number of manifest mutants are: prenatal genetic diagnoses in as many pregnancies as possible; protection from exogenous mutagenic sources such as chemical mutagens and consequent protection from ionizing radiations, especially in the field of medicine. Possibly also effective is conventional genetic counselling which, however, should be supported for purely humanitarian reasons. The author denies the necessity for extraordinary efforts in the field of "genetic engineering" for various reasons, without casting doubt on the purely scientific aspects of molecular genetics.

Biological Evolution↗
PubMed1977

[Muscular absorption of low frequency resonance in animal experiments (author's transl)].

For the further clarification of helicopter pilot's spinal troubles caused by vibration the muscular absorption was examined with the help of animal experiments. On a swinging-table acceleration values were measured in Pirbright cavies; at first this was done under a defence reaction of the muscles, and in second experiment under maximum muscular relaxation. In the tense animal the resonance occurring at 5 Hz was almost completely absorbed, whereas in the relaxed animal a clear resonance--curve could be developed at 5 Hz. On the other hand vibration at a higher frequency up to 15 Hz were to an increasing extent better absorbed in the relaxed animal than in animal with a muscular defence reaction. For this reason the protective function of a not fatigued musculature for the defence of especially badly tolerated resonance vibrations is being discussed.

Animals↗
PubMed1977

Pre-implantation embryos of Chinese hamster. I. Incidence of karyotype anomalies in 226 control embryos.

Karyotyes were determined in 226 pre-implantation embryos (4--8-cell stages) of Chinese hamster. The study was carried out under controlled natural breeding conditions, without superovulation and with the embryos developing in their mothers. A total of 5.3% karyotypically abnormal embryos were found. Over half, 3.1%, were due to ploidy mutations, 5 cases of triploidy and 2 cases of haploidy. Only 0.9% genome mutations were present, consisting of one autosomal trisomy and one autosomal monosomy. Structural aberrations were found in 1.8%, half of these probably due to a balanced maternal aberration and the rest appearing the mosaic condition only. These results are compared with the scarce body of mammalian data from the literature. Compared with the situation in man, the spontaneous aberration rates in the Chinese hamster and other experimental mammals are extremely low. This may be due, in part, to optimal timing of copulation in respect to estrus and ovulation prevailing in these animals but not in man. The low spontaneous aberration rate in the reported system is a valuable asset for purposes of mutagen testing.

Animals↗
PubMed1977

Pre-implantation embryos of Chinese hamster. II incidence and type of karyotype anomalies after treatment of the paternal post-meiotic germ cells with an alkylating mutagen.

Ninety-two male Chinese hamsters were treated with a single, sub-lethal dose of the alkylating cytostatic drug Trenimon. After 3--23 days they were mated with untreated females. The great majority of the male germ cells had been exposed to the mutagen while they were in the highly sensitive post-meiotic spermatid stage. The karyotypes of the resulting embryos were studied in the 4--8-cell stage. Out of 221 analysable embryos, 24.4% had aberrant karyotypes. Ploidy and genome mutations were, at 0.9% each, within control limits. Structural aberrations, involving one or several chromosomes, were present in 23.6% of the embryos (control 1.8%). 51% had a single aberrant centric element. The most frequent aberration types were deletions (54%), dicentrics (16%), translocations inversions and complex rearrangements with 22% and rings with 7%. About one-third of the cells, in addition, contained acentric fragments.

Animals↗