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R Fimmers

Publications and source records attributed to R Fimmers.

103 records · Page 6Linked to original sources
PubMed1989

Association and sibpair analysis for the HLA, Gm, Km, and insulin polymorphisms in multiplex IDDM families.

A log-linear model was used to analyze three-way interactions between IDDM and pairs of genetic markers. To do this, a special sample dataset was selected by taking one affected and one unaffected child from each family. Some three-way interactions were found for associations between insulin-dependent diabetes mellitus (IDDM), HLA-DR, and DQ restriction enzyme fragment length polymorphism (RFLP) patterns. No three-way interaction was found for IDDM, HLA-DR, and Gm or Km. An extended sibpair analysis was applied to the HLA-B,DR loci and to the Gm, Km, and insulin gene polymorphisms. The well-known result for IDDM and HLA was reproduced. For Gm, Km, and the insulin gene no cosegregation with IDDM could be found.

Child↗
PubMed1989

Sparteine oxidation polymorphism: phenotyping by measurement of sparteine and its dehydrometabolites in plasma.

Phenotyping of the ability to oxidize sparteine was markedly facilitated by analyzing sparteine and dehydrosparteines in a single plasma sample by gas chromatography. The definitive identification of extensive and poor metabolizers was possible only 90 min after ingestion of 100 mg sparteine sulphate. In 121 healthy volunteers determination of the plasma level ratio was compared to the established determination of the metabolic ratio in urine. In each subject the alloted phenotype was the same by both methods. Plasma and urine analysis showed 9.9% of poor metabolizers.

Adult↗
PubMed1989

Blood serotonin levels in suicidal schizophrenic patients.

A decrease in central serotonin metabolism has been found in suicidal patients. In schizophrenic patients suicidality is predominantly observed as a transient phenomenon being most pronounced during an acute psychotic episode. We investigated blood serotonin levels as a paradigm for serotonin metabolism in suicidal schizophrenic women who were psychotic and compared their data with those of nonsuicidal psychotic schizophrenic women and healthy controls. Blood serotonin was lower in suicidal female schizophrenic patients (0.44 +/- 0.05 mumol/l, n = 17) than in nonsuicidal female schizophrenic patients (0.94 +/- 0.07 mumol/l, n = 17; P less than 0.001) or in healthy women (0.90 +/- 0.02 mumol/l, n = 26; P less than 0.001). These findings support the hypothesis that decreased serotonin metabolism may be associated with suicidal behavior in schizophrenic women.

Adult↗
PubMed1988

Long-term course of schizoaffective disorders. Part I: Definitions, methods, frequency of episodes and cycles.

The present study (Cologne study) investigated the long-term course (means = 25.6 years, minimum 10, maximum 59 years) of 72 schizoaffective patients. The diagnosis was based on the longitudinal approach. All patients were interviewed personally, using the Present State Examination and a pool of questions based on some instruments of the WHO (DAS, PIRS, etc.). The course was found to be usually polyphasic (more than 3 episodes) and only exceptionally monophasic (1 episode). For the purposes of statistical analysis an episode was considered in terms of time between the beginning and ending of inpatient or inpatient-like treatment. The number of episodes and cycles were found to be independent from premorbid and sociodemographic variables. But a significant relation was found between number of episodes (and cycles) and (a) polarity of the affective symptomatology, (b) presence of psychotic productive symptoms, (c) polymorphous course, (d) age at onset, and (e) duration of activity of the illness. It can be said that schizoaffective disorders are recurrent whereby the frequency of relapses is higher in bipolar than in unipolar types.

Adult↗
PubMed1988

Long-term course of schizoaffective disorders. Part II: Length of cycles, episodes, and intervals.

Length of cycles, intervals, and episodes of 72 schizoaffective patients were investigated (duration of the follow-up means = 25.6 years, minimum 10, maximum 59 years). The average cycle length (time between beginning of an episode and next relapse) was found to be 37.5 months (median). Patients with a schizodepressive initial episode, unipolar course, and without precipitating factors relapsed much later than patients with schizomanic onset, bipolar course, and precipitating factors. The older the patient at onset the shorter the first cycle. The length of cycle decreased with increasing cycle number. Patients with schizodepressive onset, asthenic personality, and monomorphous course stayed in hospital longer or needed longer inpatient-like treatment than others. Length of cycles and intervals were characterized by an extraordinary intraindividual and interindividual variation.

Adult↗
PubMed1988

Long-term course of schizoaffective disorders. Part III: Onset, type of episodes and syndrome shift, precipitating factors, suicidality, seasonality, inactivity of illness, and outcome.

In addition to the findings presented previously, one-half of the 72 investigated schizoaffective patients had an acute onset. Onset of manic symptomatology was found to be usually acute. Although precipitating factors were found in 76% of the patients, this was found for only one-third of the 397 episodes. In spite of the fact that the majority of patients (61%) had a polymorphous course (with more than one type of episode), the pure schizophrenic or pure affective syndromes only seldomly dominated the course, as schizoaffectivity score and syndrome-presence index showed. Some 81% of the patients had delusions or hallucinations but only 37% of the individual episodes; 65% of the patients had suicidal symptomatology (24% of the episodes, mainly the schizodepressive ones). No seasonality was found, and 50% of the patients had a favorable outcome, only 6% ended in severe residuum. In old age the illness usually became inactive.

Adult↗
PubMedDate not supplied

Report of a European collaborative exercise comparing DNA typing results using a single locus VNTR probe.

A collaborative exercise was carried out in 1989 among 12 European forensic laboratories using the single locus VNTR probe pYNH24, the restriction enzyme HinfI, the same set of human genomic DNA samples, and a standardized DNA size marker. The objectives of the exercise were: (1) to study the degree of variation within and between laboratories, (2) to obtain information on requirements for technical standardization allowing the exchange of typing results and (3) to compare different approaches for the identification of allelic DNA fragments of unknown size. Each laboratory carried out up to 10 independent typing experiments using the same DNA samples. The results were analysed independently by two laboratories using three different methods. The results of the exercise demonstrate the correlation of typing that can be achieved within and between laboratories under conditions of minimal standardization.

Alleles↗
PubMedDate not supplied

Size calculation of restriction enzyme HaeIII-generated fragments detected by probe YNH24 by comparison of data from two laboratories: the generation of fragment-size frequencies.

Restriction fragment-length polymorphism of locus D2S44 detected by the highly polymorphic probe YNH24 and restriction endonuclease HaeIII can be used to improve parentage testing when representative fragment-size frequencies can be obtained. By joining the results of different laboratories, it is possible to set up a meaningful databank. Therefore, the same randomly chosen samples were tested for the HaeIII RFLP detected by probe YNH24 in Düsseldorf (DUS) and Amsterdam (AMS). The results of the different fragment-size calculations obtained by using internal markers and a computerized system (DUS-cad and AMS-cad), and by using external markers and manual calculations (DUS-man), were analyzed. Comparing these results, no statistically significant differences were seen. The results obtained with probe YNH24 and enzyme HaeIII in Düsseldorf and Amsterdam can be used to attain a sufficient number of samples to generate relevant fragment-size frequencies.

DNA↗
PubMedDate not supplied

Rates for tic disorders and obsessive compulsive symptomatology in families of children and adolescents with Gilles de la Tourette syndrome.

The aim of this study was to assess rates for tic disorders and obsessive compulsive psychopathology in families of children and adolescents with Gilles de la Tourette syndrome (TS). Diagnoses were based on the DSM III-R criteria. Obsessive compulsive psychopathology, that did not fulfill the criteria for obsessive compulsive disorder (OCD) was additionally assessed and termed obsessive compulsive symptoms (OCS). The authors hypothesized that comorbid OCD or OCS in TS patients predicts a higher familial loading with obsessive compulsive symptomatology. The study cohort included 87 patients with TS who were evaluated clinically and with the use of a structured psychiatric interview. All available parents (152/174; 87%), several sibs (49/93; 53%) and some second degree relatives (27/659; 4.1%) were also interviewed. For other first and second degree relatives the family history method was used. Familial rates for TS were clearly elevated. Rates for chronic tic disorders (CT) were considerably lower than in previous studies. Additionally, tic disorders not otherwise specified (TDNOS) were diagnosed in a substantial number of first degree (15/267; 5.6%) and second degree relatives (36/659; 5.5%). OCD in parents (4/174; 2.3%) did not occur in an above baseline rate. However, both OCD (14/87; 16.1%) and OCS (15/87; 17.2%) were frequently associated with TS in index patients. Interestingly, 10 of 16 fathers with OCS also had a tic disorder. Obsessive compulsive psychopathology clustered in families. It is concluded that genetic studies in TS could profit from adhering to a conservative diagnostic approach to both tic disorders and OCD. The familial clustering of OCS/OCD in conjunction with the elevated paternal rate for the co-occurrence of tic disorders and OCS might indicate heterogeneity of TS.

Adolescent↗
PubMedDate not supplied

Investigation of complement C4B deficiency in schizophrenia.

Several lines of evidence suggest that autoimmune mechanisms might contribute to the development of schizophrenia. Important factors involved in immune responses in man include the human leukocyte antigens and components of the complement system. In the present study we attempted to confirm a positive association between a homozygous deficiency in complement factor C4B and schizophrenia as previously reported. We also determined parental genotypes in a subset of our schizophrenic patients to test the hypothesis of a genetic mechanism depending on the mother's genotype. C4B deficiency was found in similar frequency among patients (n = 176) and controls (n = 145). There was also no increased frequency of C4B deficiency in the mothers of schizophrenic patients. Our study does not support a widespread or consistent association between a deficiency in complement component C4B and schizophrenia.

Alleles↗
PubMedDate not supplied

Long term results and morbidity of paraaortic compared with paraaortic and iliac adjuvant radiation in clinical stage I seminoma.

BACKGROUND: Radiotherapy is accepted as standard adjuvant treatment for low-stage seminoma and results in excellent survival rates. The optimal radiation field for stage I seminoma, however, is still being discussed. PATIENTS AND METHODS: In a retrospective study we evaluated long-term results concerning survival, relapse-pattern, and acute and chronic toxicity in patients receiving adjuvant radiotherapy of the paraaortic and ipsilateral iliac lymph nodes (hockey-stick, HS) versus radiotherapy of the paraaortic lymph nodes only (PA). From 1979-1997, 129 patients (median age 32 years) in clinical stage I received adjuvant radiotherapy. Eighty-seven patients were treated with 36 Gy to the HS field and 42 patients were treated with a median of 28 Gy to the PA field. RESULTS: With a median follow-up of 7.7 years (HS) and 5.2 years (PA) the relapse rate was 3.4% and 2.4%, respectively. There was no abdominal or pelvic recurrence in either group. Radiotherapy was well tolerated in both groups. No significant difference in acute or chronic toxicity was noted. However, lower gastrointestinal tract toxicities and myelotoxicities appeared less frequent in the PA group. Second malignancies only occurred in the HS group. Overall survival in the HS and PA group was 96.6% and 100%, respectively. No patient died of seminoma. CONCLUSION: With paraaortic radiotherapy only, long-term disease-specific survival was excellent. Decreased risk of acute toxicity and of second malignancies are potential benefits of the reduced radiation field.

Adult↗