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Biomedical subjects

G Wolff

Publications and source records attributed to G Wolff.

At least 19 recordsLinked to original sources
PubMed1992

Ethical and psychological aspects of living donorship and life with a donated organ.

There is far-reaching consent in the literature that public and consensual agreements on the basics of the different aspects of medical ethics are inalienable before the instigation of any innovative transplant procedure. In the case of a certain method and/or of an individual patient, however, the ultimate ethical evaluation can most likely never be entirely complete before this application. Ethical evaluation depends on the actual criteria used, the present knowledge regarding the risk--benefit--balance as well as on the ethical evaluation of the patient's and his family's own feelings and expectations which are not entirely conscious. In relation to the so-called "fundamental and constant ethical guidelines" and under a psychological perspective potential, ethical conflict constellations are presented which have to be dealt with in the process of ethical and psychological evaluation before living organ transplantation.

Child↗
PubMed1992

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease.

No detectable rearrangements involving chromosome 4p16.3 have been observed in patients with Huntington's disease (HD). New mutations for HD could involve structural alterations which might aid the localization of the defective gene. We have reinvestigated a well documented sporadic case of HD. DNA haplotyping with markers between D4S10 and the telomeric locus D4S141 reveals a recombination event in one chromosome of the sporadic HD patient. The site of recombination maps within a 50 kilobase (kb) region, about 700 kb from the 4p telomere. Based on the extremely low HD mutation rate and significantly decreased recombination in the distal region of 4p, we hypothesize a direct link between the site of the recombination and HD in this patient.

Adult↗
PubMed1992

Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome.

Clinical, cytogenetic and molecular studies were performed in three patients with Wolf-Hirschhorn syndrome (WHS). In all cases the altered chromosome 4 appeared to be the result of a de novo deletion. Cytogenetic investigations located the breakpoint at 4p15.3 and 4p13. With cytogenetic methods it was not possible to decide whether these deletions were terminal or interstitial. DNA methods also failed to define a distal breakpoint within the 4p16.3 region which might have indicated an interstitial deletion. According to the literature, the paternal chromosome 4 is preferentially deleted in most patients with WHS. DNA analysis with polymorphic markers out of the 4p16.3 region revealed that in two of the cases reported here the deleted segment was of paternal and in one case of maternal origin.

Abnormalities, Multiple↗
PubMed1992

Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agreed to blood sampling for genetic investigations. RFLP analysis was performed using probes from the region known to be deleted in some Norrie patients and polymorphic markers (DXS77, DXS7, MAOA, DXS255) from the proximal short arm of the X chromosome. There was no deletion for any of the probes in the affected males. Linkage analysis yielded positive lod scores for all informative markers (Z (DXS255, theta = 0) = 6.54, Z (MAOA, theta = 0) = 2.23, Z (DXS7, theta = 0) = 2.13). Thus, the conclusion that Episkopi blindness and Norrie disease (NDP, MIM *310600) are the same entity based on clinical evidence is now reinforced by gene mapping.

Adult↗
PubMed1992

Intrinsic PEEP monitored in the ventilated ARDS patient with a mathematical method.

Under mechanical volume-controlled ventilation, the intensive care patient can develop intrinsic positive end-expiratory pressure (iPEEP); that is, the passive expiration is terminated by the following inspiration before the alveolar pressure comes to its physical equilibrium value. We present a mathematical method to estimate this alveolar dynamic iPEEP breath by breath, without the need of a maneuver. We tested it in paralyzed patients ventilated for adult respiratory distress syndrome after multiple trauma and/or sepsis, and we compared the results obtained with the new mathematical method with those from the occlusion method introduced by Pepe and Marini. The results agreed well (median difference of 0.8 mbar in 201 investigations in 12 patients). However, the mathematically determined values, representing dynamic iPEEP, are systematically slightly smaller than those measured by the occlusion maneuver. A variation of expiratory time suggests that this difference might be due to mechanical time-constant inhomogeneity, viscoelastic processes, or other mechanisms showing time dependence.

Adult↗
PubMed1992

Maneuver-free determination of compliance and resistance in ventilated ARDS patients.

At present, most methods of lung mechanics analysis do not take nonlinearities of compliance and resistance into account. Nevertheless, nonlinearity of compliance is an inherent property of the respiratory system in ARDS and nonlinearity of resistance is an inherent property of the endotracheal tube. Herein we describe a computer-assisted multipoint method (LOOP) for breath-by-breath calculation of total respiratory system compliance (Ctrs) and total respiratory system resistance (Rtrs). Unlike our previously published method, LOOP excludes nonlinearities of compliance and resistance by confining the data used from the P/V/V loop to sequences with constant flow in inspiration and with steadily decreasing flow in expiration. LOOP was applied to five patients ventilated after open heart surgery (HEART group) and 12 patients ventilated for ARDS (ARDS group). The compliance results from LOOP were compared with the semistatic reference values corrected for intrinsic PEEP (CsST,IP). In the ARDS patients the compliance values from LOOP (46 ml/mbar) corresponded well with the semistatic compliance (CsST,IP = 42 ml/mbar). Despite the fact that there is no reference method for resistance known to date, we also determined the semistatic resistance (RsST) at end-inspiratory pause. The resistance values determined with LOOP were 8.5 mbar/L/s (RsST = 7.3 mbar/L/s) in the HEART group and 11.1 mbar/L/s (RsST = 8.6 mbar/L/s) in the ARDS group. LOOP gives a good correspondence between the linear RC model and the measured data in ARDS patients. In conclusion, LOOP requires neither an end-inspiratory pause (EIP) nor additional determination of intrinsic PEEP and gives Ctrs, automatically corrected for IPEEP, as well as Rtrs breath by breath at the bedside.

Adult↗
PubMed1991

Renal transplantation in 22 children with nephropathic cystinosis.

In 1989, 22 children (11 boys, 11 girls aged 8-23 years) with nephropathic cystinosis, who had received a total of 28 renal allografts over the previous 14 years, were reviewed. Nineteen were alive, of whom 17 had functioning grafts 5 months to 13 years after transplantation. The mean serum creatinine level in these 17 was 135 mumol/l. Patient and graft survival did not differ from non-cystinotic children. Persistent hypothyroidism was found in 3 patients, transient diabetes mellitus in 1, severely disturbed vision in 1 and brain atrophy in 11. Arterial hypertension was present in 16 patients. Growth retardation was universal, although in 4 patients on cyclosporin A post-transplant catch-up growth occurred. Five patients over 15 years completed puberty. Readjustment in terms of school performance was good but was less good for psychosocial development. None of the patients had ever been treated with cystine-depleting agents; the data will therefore provide a historical control group with which to compare the results from a group treated with these agents.

Adolescent↗
PubMed1991

[Genetic counseling in prenatal diagnosis of cystic fibrosis].

In this paper we discuss the possible results of post- and prenatal DNA-diagnosis in cystic fibrosis with respect to the modification of the risk of having an affected child, depending on how closely the affected patient is related to those seeking advice. For parents with an affected child post- and prenatal DNA-diagnosis yields very reliable results and is an important factor in their decision process. In contrast to this, DNA-diagnosis for other relatives or individuals without an affected family member can lead to results which may intensify conflicts of decision making. This stresses the growing importance of genetic counseling before and after genetic diagnostic measures for cystic fibrosis.

Chorionic Villi Sampling↗
PubMed1990

The effect of non-ionic surfactants on the SOS-inducing potency of 4-nitroquinoline-1-oxide in Escherichia coli PQ37.

Various non-ionic surfactants affect the SOS-inducing potency (SOSIP) of the model genotoxin, 4-nitroquinoline-1-oxide, in Escherichia coli PQ37 to varying degrees, as measured by an automated version of the SOS chromotest. While there is little effect on the SOSIP value and other test parameters from Tween 20 and 80 and, with some reservation, Triton X305 and Tyloxapol, over the critical micelle concentration range, the SOSIP value increases in the presence of comparable concentrations of Triton X15, 45 and 100. A possible dependence of the tester strain's beta-galactosidase production and its growth inhibition on the HLB of the non-ionic surfactants added is discussed.

4-Nitroquinoline-1-oxide↗
PubMed1990

The structural analysis of the mitochondrial SSUrRNA implies a close phylogenetic relationship between mitochondria from plants and from the heterotrophic alga Prototheca wickerhamii.

The gene for the mitochondrial small subunit rRNA (SSUrRNA) from the heterotrophic alga Prototheca wickerhamii has been isolated from a gene library of extranuclear DNA. Sequence and structural analyses allow the determination of a secondary structure model for this rRNA. In addition, several sequence motifs are present which are typically found in SSUrRNAs of various mitochondrial origins. Unexpectedly, the Prototheca RNA sequence has more features in common with mitochondrial SSUrRNAs from plants than with that from the green alga Chlamydomonas reinhardtii. The phylogenetic relationship between mitochondria from plants and algae is discussed.

Base Sequence↗