Biomedical subjects

U Müller

Publications and source records attributed to U Müller.

At least 361 records · Page 20Linked to original sources

PubMed1991

[Psychiatric and neuropsychological symptoms in children with arachnoid cysts--a case report].

Arachnoid cysts (AC) are intracranial, extracerebral cysts. They can produce a wide variety of neurological symptoms, but they can also be asymptomatic or produce psychological or psychiatric symptoms. First, a short overview of the clinical manifestations of AC is given. There is an astonishing lack of literature dealing with psychological problems in children with AC. The case of a 12-year-old boy with a large left temporofrontal AC without increased intracranial pressure is presented. The psychiatric symptoms, which had begun only a few months earlier, included lack of interest, attention deficit, difficulties in contact and communication, severe outbursts of aggression and obsessive-compulsive, inhibited behavior. The main neuropsychological finding was slow and hesitant expression of thoughts despite an intelligence level in the upper normal range. The findings and course are described in detail. They are discussed as signs of an organic psychosyndrome due to the AC.

Affective Symptoms↗

PubMed1990

[Acute severe dyspnea as a side effect of drugs. Report from the CHDM (Comprehensive Hospital Drug Monitoring)].

This "syndrome" has been observed in 4 of 23,935 in-patients registered in the years 1974-1987 in the Comprehensive Hospital Drug Monitoring (Bern/St. Gallen), with 6 reactions. Signs of an attack of bronchial asthma, laryngeal or pulmonary edema or a (heart-)circulatory event were not observed. Each patient was cyanotic and 3 had the feeling of impending death. The eliciting drugs were penicillin-G (twice) and cefazolin (once), given i.v.; iron dextran i.m. (once); pitressin tannate i.m. (once) and dicobalt edetate (Kelocyanor) i.v.(once). In each case the reaction started during or shortly after injection of the drug; the duration of the reaction in 5 of these events was 20-80 minutes. The pathomechanism could be a special form of anaphylactic reaction with acute pulmonary hypertension, comparable to IgE-induced anaphylaxis in the rabbit or aggregate anaphylaxis in the monkey or the dog. Further observations are needed for more detailed study.

Acute Disease↗

PubMed1990

Establishment of de novo DNA methylation patterns. Transcription factor binding and deoxycytidine methylation at CpG and non-CpG sequences in an integrated adenovirus promoter.

The establishment of de novo patterns of DNA methylation in mammalian genomes is characterized by the gradual spreading of methylation, which has been documented to occur across an entire integrated adenovirus genome as well as at the nucleotide level in the integrated late E2A promoter of adenovirus type 2. By applying the techniques of genomic sequencing and dimethylsulfate or DNase I genomic footprinting in vivo, we have now demonstrated that the spreading of methylation in cell lines that carry the late E2A promoter with three in vitro pre-methylated 5'-CCGG-3' sequences initially involves a DNA domain of this promoter that is devoid of bound proteins. Subsequently, methylation further spreads to neighboring regions, and the patterns of complexed transcription factors are altered. Evidence has been adduced that DNA methylation at sequences homologous to the AP-1 and octamer binding factor sites interferes with protein binding. In contrast, the methylation of sequences in the vicinity of but not involving sequences homologous to an AP-2 site still permits the binding of proteins to these sites. It is significant that during the spreading of methylation a few 5'-CG-3' sequences can remain hemimethylated for several cell generations, before they also become methylated in both complements. Moreover, in cell line HE2, the integrated, heavily methylated late E2A promoter has been shown by the genomic sequencing technique to contain 5-methyldeoxycytidine residues, not only in all 5'-CG-3' dinucleotides but also in a 5'CA-3' and a 5'-CT-3' dinucleotide sequence. Hence, 5-methyldeoxycytidine occurs in a silenced mammalian DNA sequence also in dinucleotides other than 5'-CG-3'. This finding raises the question of whether 5-methyldeoxycytidine in non-5'-CG-3' dinucleotides can be maintained in the methylated state during continuous cell propagation.

Adenoviridae↗

PubMed1990

Properties of three different ion channels in the plasma membrane of the slime mold Dictyostelium discoideum.

'Patch-clamp' experiments in the cell-attached configuration have shown the existence of three distinct types of ion channels in the plasma membrane of Dictyostelium discoideum. Channels DI (slope conductance 11 pS) and DII (slope conductance 6 pS) promote an outward current at depolarizing voltages. A third ion channel (HI, slope conductance 3 pS) opens preferentially at hyperpolarization and promotes inward current flow. It is suggested that under physiological conditions current through the DI and DII channels is carried by K+, whereas Ca2+ may be the current carrier in the HI channel. The density of these ion channels in the membrane of D. discoideum is low: approx. 0.1/micron 2 for the DI and HI channel and 0.02/micron 2 for the DII channel. The gating properties of the ion channels appear to be complicated because openings are grouped into bursts of activity. The probability of the DI channel being in the open state increases with depolarization. The mean channel life-time is about 20 ms and voltage-independent. The burst duration increases with depolarization whereas the interburst time decreases. The minimal kinetic model accounting for the behaviour of the DI channel is a three-state model with two closed and one open state. A detailed analysis of the gating of the DII and the HI channel was prevented by their low rate of occurrence (DII) or fast inactivation (HI). The formation of a seal resistance greater than or equal to 1 G omega depends critically on the composition of the pipette solution. Examination of a series of monovalent and divalent cations as well as different organic and inorganic anions has shown that 'gigaseals' are formed only in the presence of at least 1 mM Ca2+ or Sr2+, whereas Ba2+, Mg2+ and monovalent cations (Li+, Na+, K+, Rb+, Cs+) do not support the formation of high seal resistances. Anions seem not to affect the seal formation.

Calcium↗

PubMed1990

Measurement of intracardiac dimensions and structures in normal young adult subjects by transesophageal echocardiography.

Transesophageal echocardiography (TEE) has proven to be an excellent diagnostic means of diagnosing different cardiac diseases. To distinguish between normal and pathologic findings, standardized measurements of well-defined cross-sectional planes are necessary. Therefore, the 2-dimensional echocardiographic data of 25 healthy volunteers were obtained. In 13 men and 12 women, aged 19 to 30 years, recordings of the left ventricular short-axis view, the 2- or 4-chamber view with the left and right atria, the long axes of the left and right ventricles, the mitral and tricuspid valve ring and the atrial septum were analyzed. Furthermore, the aortic valve plane and the ascending and descending aorta were also measured. All data are given as mean values +/- 2 times the standard deviation. End-diastolic and end-systolic left ventricular anterior-to-posterior diameter of the left ventricular short axis was 2.5 +/- 0.3 cm/m2 and 1.7 +/- 0.3 cm/m2, with the fractional shortening ranging from 27 to 42%. The end-systolic lateral diameter was 2.4 +/- 0.5 cm/m2 for the left atrium and 2.4 +/- 0.4 cm/m2 for the right atrium, and the end-systolic anterior-to-posterior diameter was 1.5 +/- 0.6 cm/m2 for the left atrium and 2.1 +/- 0.6 cm/m2 for the right atrium. End-diastolic diameters of 3.4 +/- 0.6 cm/m2 and 2.8 +/- 0.4 cm/m2 were obtained for the long axis of the left ventricle and for the right ventricle. Measurements ranged from 1.5 to 2.2 cm/m2 for the end-diastolic diameter of the mitral ring and from 1.3 to 2.0 cm/m2 for the tricuspid ring.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1990

[The incidence of hay fever in leading Swiss athletes].

This enquiry covers 2961 active Swiss athletes of national or international standing in 68 different sports. Of these, 2060 (70%; 1507 males, 552 females) answered the questionnaire. 347 athletes (16.8%) indicated they suffered from hay fever, 204 of them (59%) needing medication during the pollen season. 25% took antihistamines, 20% various nasal decongestants, 19% Similasan, a homeopathic drug, and 11% various eye drops. 6% received injections of depot corticosteroid preparations. 50% of the athletes obtained these medications on prescription. 146 athletes (7.1%) complained of lower respiratory tract symptoms, 77 of them mentioning asthma attacks and 47 continuous dyspnea. The enquiry shows that the incidence of hay fever in highly trained athletes is as high as in the general Swiss population. The same is true of asthma. A considerable proportion of allergic athletes are inadequately informed as to both antiallergic therapy and doping regulations.

Adolescent↗

PubMed1990

X-linked recessive torsion dystonia in the Philippines.

The occurrence of an X-linked form of torsion dystonia in the Philippines was demonstrated by the genetic and biochemical analysis of affected males and their relatives. Thirty-six affected males were ascertained in 21 families by clinical neurologic evaluation. The mean age-of-onset of dystonia was 37.9 years with a range from 12 to 52 years. Neurologic symptoms began focally and progressed to either segmental or generalized involvement in all cases. Generalized dystonia developed in 78% of the patients after a mean duration of 6.8 years from the onset of symptoms. A family history of dystonia was elicited in 17 of the 21 kindreds, accounting for a total of 64 males and one possibly affected female, distributed among 224 individuals in 33 sibships. In 18 of the 33 sibships, 2 or more brothers reportedly had dystonia. There were 12 kindreds with a history of multigenerational dystonia. In those, only males of maternal ancestry were affected, and in 7 of these families, maternal grandfathers reportedly had dystonia. There were no instances of male-to-male transmission. Cytogenetic analysis did not show any X chromosome abnormalities in 4 affected propositi. Several secondary causes of torsion dystonia were excluded, including Wilson disease, aminoacidopathies, organic acidurias, oligosaccharidoses, and chronic hexosaminidase A and B deficiency. These findings substantiate the existence of an X-linked recessive form of primary torsion dystonia.

Adolescent↗

PubMed1990

Time pattern of allergic reactions to drugs.

Generalized, allergic reactions to drugs show time patterns different from those based on pharmacological concepts. We distinguish three types of reactions: acute reactions (reaction time (RT): 0-60 minutes), subacute reactions (RT: 1-24 hours) and reactions of the latent type (RT: 1 day to several weeks). In this study, allergic reactions in the strict sense are supplemented by reactions considered to be based on intolerance or idiosyncrasy to aspirin, pyrazolones, paracetamol, NSAIDs, quinidine, iodine-containing contrast media and some as yet not understood reactions to local anaesthetics. Out of a total of 23,935 drug monitoring patients with 32,317 hospitalizations in the clinical divisions of internal medicine at three Swiss hospitals during the 1974-1987 period, 951 patients with 1,040 probably or definitely drug-related events of the selected type were recorded. Ultimately, 287 patients with 310 adverse drug reactions (ADRs) fulfilled our selection criteria and were classified into six groups of syndromes (Table 1). (Of the reactions described as maculopapular rash, unspecified rash and special exanthema, only the 159 reactions from the 1985-1987 period out of a total of 889 reactions of this type observed during the whole study period were included in our secondary evaluation.) The total number of 310 reactions (100%) showed the following RT distribution: 36 (11.6%) were of the acute type, 13 (4.2%) of the latent type, 12 (3.9%) could be interpreted as two distinct possible types of reaction to different drugs, and for 3 (1.0%) reactions, the type of reaction was indeterminable. The majority of reactions, 246 (79.4%), were of the subacute type starting within 24 hours of the last drug exposure. Among the 36 reactions of the acute type, 7 events of acute severe dyspnoea were observed which seemed to be as life-threatening as anaphylactic or anaphylactoid shock. These hospital-epidemiological data are of interest for focusing basic research and developing further principles of drug safety.

Anti-Bacterial Agents↗

PubMed1990

Cytogenetic and molecular analysis of a Yq isochromosome.

The dicentric Yq isochromosome of a male with azoospermia and some features of Klinefelter's syndrome was examined using cytogenetic and molecular methods. C- and R-banding of chromosomes of peripheral blood lymphocytes revealed a complex mosaic consisting of 46,X,i(Yq)/45,XO/46,XY/47,XYY/47,XY, i(Yq)/47,X,i(Yq),i(Yq) cells. EBV-transformed lymphocytes either had a 46,X,i(Yq) (90%) or a 46,X, + mar (10%) karyotype. The marker chromosome was shown to be Y-derived by in situ hybridization. C-banding, quinacrine- and DA/DAPI-staining indicated inactivation of one of the centromeres in almost all Yq isochromosomes. The use of Y chromosomal DNA sequences demonstrated that most of the Y chromosome, including its short arm, was duplicated.

Adult↗

PubMed1990

Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization.

An 11-year-old patient with incomplete testicular feminization and a 47,XXY karyotype is described. The patient had female external genitalia, clitoromegaly, and some features of Klinefelter's syndrome, including speech delay and delayed intellectual development. DNA analysis using X chromosomal DNA sequences suggest that the supernumerary X chromosome in the patient resulted from maternal nondisjunction during meiosis II. The M II error thereby provides the basis for homozygosity of a mutation in the androgen receptor locus.

Androgen-Insensitivity Syndrome↗

PubMed1990

The genetics of primary torsion dystonia.

Primary torsion dystonia is an idiopathic movement disorder presumably caused by abnormal function of the basal ganglia. The disorder may be inherited either as an autosomal dominant, autosomal recessive, or X-linked recessive trait. At least six forms of autosomal dominant torsion dystonia can be distinguished clinically. Linkage analysis in one form of autosomal dominant torsion dystonia permits the assignment of a "torsion dystonia locus" to the long arm of chromosome 9.

Dystonia Musculorum Deformans↗

PubMed1990

Risk of acute upper gastrointestinal bleeding in patients with ulcerative disease and treatment with non-steroidal anti-inflammatory drugs (NSAIDs). Results from the Comprehensive Hospital Drug Monitoring Berne (CHDM).

The hospital prevalence rate for upper gastrointestinal ulcerative disease in 28,531 inpatients consecutively admitted in two teaching hospitals in the Comprehensive Hospital Drug Monitoring (CHDM) in Berne, from 1974 to 1985, was 2.2% (1.8% for gastric or duodenal ulcer, and 0.4% for erosive gastritis). This was based on the evaluation of 634 patients after exclusion of the subgroup of patients with hepatic cirrhosis or upper gastrointestinal neoplasia. After exclusion of patients on anticoagulant therapy (n = 73), 561 (= 100%) patients could be further studied. Of them, 33.3% (n = 187) were found to have been exposed to non-steroidal anti-inflammatory drugs (NSAIDs), including aspirin, within 21 days prior to confirmation of the diagnosis. The observed relative risk (RR) of developing a substantial acute upper gastrointestinal bleeding (Hb less than 10 g/100 ml for men, and less than 9 g/100 ml for women, or a decrease in Hb of more than 25%) was 1.61 when patients exposed to NSAIDs (n = 187) were compared to patients not exposed to those drugs (n = 374). Although there was no significant sex difference overall, the RR for gastrointestinal bleeding differed considerably in the various age-groups; it was elevated in men under 40 years (RR = 2.86) and in women over 60 years of age (RR = 1.89), as compared to the mean RR of 1.61.

Adult↗

PubMed1990

Medically inappropriate inpatient care in West Germany.

The extent of medically unnecessary hospital utilization in West German acute hospitals was measured by a representative study. A random sample of medical records was reviewed and assessed according to appropriateness by specially experienced physicians. This rating method was trained, standardized and evaluated. The study yields a mean length of stay of 13 days with 2.4 days (18.4%) of inappropriate use. Further analyses concern the influence of diagnoses, age, sex, hospital size etc. Prorated to all 461 300 West German acute hospital beds, 85,000 beds or 26.6 million patient days per year are affected by inappropriate use.

Adolescent↗

PubMed1990

Endocrine responses to growth hormone releasing hormone and corticotropin releasing hormone in early-onset Alzheimer's disease.

In a study of the hypothalamic-pituitary-somatotropic (HPS) and the hypothalamic-pituitary-adrenal (HPA) systems in early-onset Alzheimer's disease (AD), 10 drug-naive patients and matched controls were given 50 micrograms growth hormone releasing hormone (GHRH) at 9 a.m. and 100 micrograms corticotropin releasing hormone (CRH) at 6 p.m. as an i.v. bolus dose. Compared with controls, patients with AD showed attenuated GHRH-induced growth hormone (GH) responses and decreased adrenocorticotropic hormone (ACTH) but normal cortisol secretion following CRH. GH responses to GHRH were negatively correlated with the plasma insulin-like growth factor (IGF-I) concentrations and the severity of dementia. A positive correlation was found between GHRH-evoked GH release and ACTH responses to CRH. The results suggest a pathological process at the level of the pituitary or the hypothalamus, possibly involving a cholinergic, monoaminergic, or peptidergic imbalance in AD, and support the view that altered HPS and HPA secretory dynamics in AD are related to the underlying brain dysfunction.

Adrenocorticotropic Hormone↗

PubMed1990

A physical map of the human Y-chromosome short arm.

A physical map of the Y-chromosome short arm was constructed using DNA probes p19B, Y-286/la5, pZFY, Y-280, and Y-227. These probes hybridize with four NotI fragments of 400 kb (p19B and Y-286/la5), 350 kb, 1.9 Mb, and 3.0 Mb, respectively. The restriction fragments were shown to be adjacent to each other by analysis of NotI partial digests, overlapping restriction fragments, and/or the detection of rearranged restriction fragments in a 46,XX male. The present map covers approximately 5.6 Mb of contiguous DNA of Yp. Previously, the size of the pseudoautosomal region was estimated to be 2.3 Mb, and a 5.3-Mb NotI fragment containing Y-specific repeated DNA was assigned to proximal Yp. These and the present data account for approximately 13 Mb and thus for most of the DNA content of the Y short arm.

Cell Line↗

PubMed1990

Mastocytosis and atopy: a study of 33 patients with urticaria pigmentosa.

Thirty-three patients with histologically verified urticaria pigmentosa were studied for coexisting atopic disease by means of history, skin prick testing with five common inhalants and serological investigation for total IgE and specific IgE antibodies to five common inhalants. The prevalence of atopy in urticaria pigmentosa was similar to that observed in the normal Swiss population, both on the basis of history (7/33 = 21%) and of positive skin prick tests to common inhalants (12/33 = 36%). However, total serum IgE levels were significantly lower (geometric mean value 16.8 kU/l) than in a control group of 52 Swiss blood donors of comparable age and sex distribution (geometric mean value 43.0 kU/l, t = 2.93, P less than 0.005). Specific IgE antibodies to common inhalants were also observed less frequently in urticaria pigmentosa patients than in controls, although this difference was not statistically significant. Low total and specific IgE values in patients with urticaria pigmentosa may be explained by increased absorption of circulating IgE to abundant tissue mast cells.

Adolescent↗

PubMed1990

Structure and chromosomal mapping of a highly polymorphic repetitive DNA sequence from the pseudoautosomal region of the mouse sex chromosomes.

The pseudoautosomal region of the Mov15 mouse strain is marked by a Moloney murine leukemia provirus. The sequences flanking the Mov15 provirus were molecularly cloned and shown to consist of a tandemly repeated sequence of 31 nucleotides. Copy number variation of this repeat most likely accounts for the polymorphism in the mouse pseudoautosomal region detected with a probe from the flanking sequences. In situ hybridization to metaphase chromosomes showed heavy labeling of the pairing region of the X and Y chromosomes. The repetitive sequence was also found at the subtelomeric region of three autosomes. A similar level of amplification as the one seen on the sex chromosomes seems to be present on chromosomes 9 and 13. Lower copy number appear to be present on chromosome 4.

Animals↗

PubMed1990

Process analysis in behavioral family therapy.

Process research in behavioral family therapy (BFT) is a hitherto neglected area with the notable exception of the work of Alexander and Patterson with their colleagues. However, the development of instruments to assess therapist's behavior during the treatment session seems timely for the following reasons: (a) to investigate the relationship between therapist behavior and outcome, (b) to improve therapist training/supervision, (c) to establish treatment integrity in comparative outcome studies, and (d) to monitor treatment progress. For these purposes two sets of instruments were developed: (a) a category system to describe the content of a session, which is rated every 30 seconds and (b) several rating scales to evaluate therapist behavior, including relationship competency, ability to structure a session, didactic competence, ability to initiate behavioral probes, use of appropriate intervention strategies, use of reinforcement, and dealing with uncooperativeness. Scales are described, and data on their reliability and utility are presented.

Adult↗