Biomedical subjects
Publications and source records attributed to G Wolff.
The fracture of the femur near the hip-joint as the typical fracture in the higher age is causing a high multi-morbidity. In the period 1969-1986 821 patients have been attended to. The application of methods of operation which are stable under charge have led the reducing the fatality and the duration of stationary medical attendance and to better functional early results.
The SOS chromotest is a simple quantitative short-term bacterial assay for the detection of genotoxic activity of pure compounds or complex samples. On the basis of consecutive experiments aimed at demonstrating the relationship between the inoculum size and the outcome of the test using 4-nitroquinoline-1-oxide (4-NQO) as model genotoxin. It is shown that within the suitable range of the cell number there is a negative correlation between the number of tester cells and test sensitivity. Moreover, it could be demonstrated that the peak of the dose response curve, i.e., the maximal induction factor, is systematically influenced by the actual value of the ratio of beta-galactosidase to alkaline phosphatase enzyme activities at a 4-NQO concentration of zero. Last but not least, some simple statistical data describing the performance of the automated version of the SOS chromotest are also given.
Ring (20) chromosomal mosaicism defined by two cell lines (one normal and the other with the ring) has been demonstrated in lymphocyte and fibroblast cultures from three members of a family through two generations. Two carriers of the ring chromosome were affected and showed the typical signs of r(20) syndrome including mental retardation, microcephaly, behavioral disorders, and epilepsy. The epilepsy is characterized by complex partial seizures sometimes evolving secondarily into generalized tonic-clonic seizures and is poorly controlled by or resistant to medical treatment. The mother of the two patients, also a carrier of ring (20) chromosomal mosaicism, was clinically and phenotypically normal and did not exhibit any signs of epilepsy. Lymphocyte and fibroblast cultures from the most severely affected sib, the proband, contained the highest percentage of cells with ring (20) chromosome and revealed the greatest instability of the ring. Though it is assumed that the ring (20) chromosome arose from terminal breakage and reunion in both arms, no loss of genetic material could be documented cytogenetically. Yet the question arises of how ring chromosomal mosaicism can be passed on. One explanation might be that a chromosome 20 predisposed to terminal lesions or breaks is transmitted from the mother to her offspring. Inherited instability of this type might lead to de novo formation of the ring.
We report on genetic counseling and investigations in 36 families with inherited balanced translocations ascertained in different ways, with special regard to the completeness and reasons for incompleteness of family investigation. Quantitative evaluation of the results of cytogenetic investigations shows that non-directive genetic counseling was very effective in many families. Yet, in most of the families (34) genetic counseling and investigation remained incomplete in the sense that not all living potential translocation carriers could be counseled or investigated or that the origin of a fresh mutation could not be established by a normal karyotype in the parents of a carrier. Only in seven families could nearly all living potential carriers be counseled and investigated. The most frequent reason for incompleteness was the impossibility of transmitting or refusal to transmit information about the genetic risks to relatives (21 families), whereas direct rejection of investigation by a counseled individual was a rather rare event (18 adults). Families ascertained because of an unbalanced child seem to be more willing to transmit genetic information to relatives than families ascertained in other ways. Non-directive genetic counseling gave us an insight into the emotional problems arising during counseling of translocation families.
We report a large family with an isolated case of Huntington's disease (HD), which is probably the result of a new mutation. The patient developed clinical signs typical of HD at the age of 36. The clinical course of the patient's disease is documented by several clinical admissions over a period of 14 years at present. The family history is strikingly negative with the parents having been clearly unaffected into their 80s and with 13 older and two younger, living, healthy sibs. Extensive testing of polymorphic markers (blood groups, red cell and serum proteins, HLA antigens) showed no indication of non-paternity, but rather gave strong support to the hypothesis that the proband is a full sib. In addition, DNA typing for several RFLPs known to be closely linked to the HD gene locus indicated that several clearly unaffected sibs share one or the other or both of the patient's haplotypes. This is further evidence in favour of the hypothesis of a new mutation at the HD locus. The posterior probability of a new mutation to HD in the patient exceeds 99%, even if an a priori probability of non-paternity of 10% and a mutation rate of HD of 10(-7) is assumed.
This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dystrophy or autosomal recessive limb girdle muscular dystrophy is calculated using pedigree information, results of serum creatine kinase determinations, and also, in one family, results of DNA typing using RFLPs from the short arm of the X chromosome.
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Review of literature. Already low dosis of alcohol damage gastric mucosa; alcohol especially causes erosions. In spite of acute damage there is no proven correlation between alcohol and chronic gastritis. HC1 secretion is stimulated by low dosis of alcohol only; higher dosis have no effect on acid secretion. Nevertheless beer or wine stimulate acid secretion very intensively by gastrin liberation. -Low concentrations of alcohol have no influence on gastric emptying, but higher concentrations delay emptying, solid meals more than liquid meals.
Based on a yearly evaluation carried out by the Swiss Society for Intensive Care Medicine and the Swiss Nurses Association, statistical reports for 1986 from 72 recognized intensive care units are presented.
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A BrdU-requiring fragile site, fra(12)(q24.2), on human chromosome 12 of some individuals is reported. This fragile site is inherited in a Mendelian codominant fashion and does not seem to be associated with any physical or mental abnormality in carriers. It was mostly observed as a chromatid gap: no acentric fragments, triradials or deleted chromosomes were found. The fra(12)(q24.2) was expressed in 34%-48% of metaphases in lymphocyte cultures from carriers when BrdU and FdU were added 6.5 h before harvest, while the expression ranged between 5% and 20% when the cultures were treated with BrdU alone. The fra(12)(q24.2) represents the second BrdU-requiring rare fragile site described on human chromosomes.
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The paper presents a case report of a clinically healthy woman with a family history of Huntington disease, whose child developed symptoms of the disease at the age of 8 years. Psychotherapeutic treatment for more than 18 months has provided insight into the problems associated with being an unsymptomatic carrier of the gene and helps to elucidate some aspects of predictive testing.
We report on 2 siblings with autosomal-recessive polycystic kidney disease, diagnosed at the ages of 14 and 18 years, respectively. Clinical findings and differential diagnosis, especially for autosomal-dominant polycystic kidney disease, are given. The consequences for genetic counselling are discussed.
We report on a now 16 month old child, born with multiple bone defects. A characteristic poikiloderma leading to the diagnosis appeared after six months. A review of the literature is given and the clinical heterogeneity of the Rothmund-Thomson-Syndrome is discussed. It is suggested, that the combination of the described malformations represents a Thomson Syndrome.
In a review of the literature it is considered a possible relation between duodenogastric reflux and chronic gastritis. Doubtless bile acids are able to break down mucosal barrier in an acute action. But it is not proven, that bile acids cause chronic gastritis in chronic action. Furthermore duodenogastric bile reflux is a frequent and physiological event. Therefore we can not accept the duodenogastric reflux as the cause of simple chronic gastritis. The expression "reflux gastritis" is not correct for each kind of chronic gastritis that is no auto-immune gastritis.
The SOS chromotest is a simple quantitative short-term bacterial assay for the detection of genotoxic activity of pure chemicals or complex samples. The test is based on the measurement of the induction of the SOS response by xenobiotics which cause damage in replicating or non replicating DNA. The assay has been originally developed as a test-tube method but has recently been modified and extensively evaluated (Quillardet and Hofnung 1985, Quillardet et al. 1985). In an attempt to automate the SOS chromotest a manual test procedure based on microtiter plates (Orgenics Ltd. 1986) has been further adapted to Bioscreen analyzer system (Labsystems OY, Helsinki, Finland). In this application the test is controlled by a self-contained, interactive programme and makes use of a kinetic measure principle for quantifying the enzymatic activities to be evaluated. The present experiences with the automated version of the SOS chromotest indicate its usefulness as primary screening method or part of a battery of bacterial short-term tests for genotoxins and point out its remarkable practical advantages.