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Biomedical subjects

M Fichter

Publications and source records attributed to M Fichter.

At least 37 records · Page 2Linked to original sources
PubMed1999

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

The melanocortin-4 receptor gene (MC4-R) has been implicated in weight regulation. Recently, two independent groups reported frameshift mutations associated with a dominant form of obesity (1, 2). We screened the coding region of the MC4-R in 306 extremely obese children and adolescents (mean body mass index: BMI 34.4 +/- 6.6 kg/m2), 25 healthy underweight students (mean BMI 17.1 +/- 0.8 kg/m2), 52 normal weight individuals (mean BMI 22.0 +/- 1.0 kg/m2), 51 inpatients with anorexia nervosa (AN, DSM IV criteria, mean BMI 14.3 +/- 1.5 kg/m2) and 27 patients with bulimia nervosa (BN, DSM IV criteria, mean BMI 21.7 +/- 5.8 kg/m2) by single strand conformation polymorphism analysis (SSCP). Several mutations were identified, including the frameshift mutation described (1). The mutations were as follows: a) The deletion of 4 bp (delta of CTCT at codon 211) results in a frameshift, thus rendering a truncated protein. This mutation has been assumed to be associated with dominantly-inherited morbid obesity in humans (1). Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg/m2, height 164 cm, age 42.5 years) were heterozygous for the deletion. b) A nonsense mutation at position 35 of the MC4-R was detected in two obese probands (BMI 31.29 kg/m2 and BMI 45.91 kg/m2). This mutation leads to a truncated protein that encompasses the N-terminal extracellular domain. Both carriers additionally showed (c) a missense mutation (Asp-37-Val). In both of these cases Tyr-35-Stop and Asp-37-Val were maternally transmitted, thus these variations form a haplotype. d) e) A male obese proband harbored two missense mutations (Ser-30-Phe, Gly-252-Ser). f)-i) Four different missense mutations (Pro-78-Leu, Thr-112-Met, Arg-165-Trp, Ile-317-Thr) were detected in four different male probands, respectively. All of these mutations (a to i) were found solely in extremely obese individuals whose BMIs were all above the 99th percentile. j) A silent mutation (C-579-T, Val-193-Val) was detected in a male underweight individual. k) A previously described polymorphism (Val-103-Ile; 3) was detected with similar frequencies in all different study groups. 1) We identified a novel polymorphism (Ile-251-Leu) with similar allele frequencies in all groups under study. In conclusion, our data indicate that mutations in the MC4-R are not uncommon. Whereas our data support the evidence for dominantly inherited obesity as revealed by the three obese probands with haplo-insufficiency, the functional significance of the missense mutations remains to be determined.

Adolescent↗
PubMed1999

[Mental illness in homeless men and women in Munich].

PURPOSE: Mental illness appears to be overrepresented among homeless individuals. The purpose of this study was the standardised assessment of mental illness in a representative sample of homeless men and of homeless women in the city of Munich, Germany. METHODS: In order to get a very good estimate of the population of homeless individuals in Munich, a pre-sampling survey was conducted. On the basis of this pre-sampling survey the size and relevant characteristics of the total population of homeless individuals in Munich were defined. Individuals of the sample were randomly selected from the population. 146 men and 32 women were interviewed using the Diagnostic Interview Schedule (DIS). RESULTS: Homeless men were on the average 43 years of age; most of them unmarried or divorced, had a relatively low degree of school education and a relatively long duration of homelessness. The prevalence of mental illness (lifetime) was very high: 91.8% had a substance abuse disorder (82.9% alcohol dependence), 41.8% had an affective disorder, 22.6% had an anxiety disorder and 12.4% suffered from schizophrenia. Of the homeless men in Munich 94.5% had at least one DIS/DSM-III axis I diagnosis 6-month prevalence data is also presented. CONCLUSIONS: The results confirm the findings of other studies in other countries of high rates of mental illness among homeless individuals. In comparison to a study in Los Angeles using the same methodology, prevalence rates were even higher in Munich. Implications for health care planning are discussed.

Adolescent↗
PubMed1998

[Inpatient behavioral medicine in chronic skin diseases].

Behavioral medicine is a newer approach in the management of various diseases. In the last years, special programs have been developed for atopic dermatitis, psoriasis vulgaris and other chronic skin diseases. An increase in the patient's self-control could be achieved by optimizing the patient's skills in dealing with their skin disease. The article summarizes the principles and procedures of in-patient behavioral medicine, especially the strategies employed by dermatological training groups and psychotherapeutical groups to help the patient deal with their skin disorder.

Adaptation, Psychological↗
PubMed1998

No evidence for involvement of the leptin gene in anorexia nervosa, bulimia nervosa, underweight or early onset extreme obesity: identification of two novel mutations in the coding sequence and a novel polymorphism in the leptin gene linked upstream region.

Mutations in the leptin gene can result in profound obesity in both rodents and humans. In humans, serum leptin levels correlate with body mass index (BMI: kg m(-2)). However, in patients with anorexia nervosa (AN) leptin levels are lower than in BMI-matched healthy controls. We had previously argued that genes involved in weight regulation should be considered as candidate genes for AN. To investigate this hypothesis we screened the coding region of the leptin gene and part of the leptin gene linked upstream region (LEGLUR) in 49 patients with AN and 315 children and adolescents with extreme obesity. Two novel mutations in the coding region (Ser-91-Ser; Glu-126-Gln), each found in a single proband, and a novel polymorphism in the LEGLUR (position -1387 G/A; frequency of both alleles approximately 0.50) were identified. Tests for association of LEGLUR polymorphism alleles were negative by comparing allele frequencies between 115 AN patients, 71 bulimia nervosa patients, 315 extremely obese children and adolescents, 141 healthy underweights and 50 controls that were not selected for body weight. Tests for transmission disequilibrium were also negative. Hence, an influence of variations in the leptin gene on eating disorders or extreme early onset obesity could not be detected.

Adolescent↗
PubMed1998

Systematic mutation screening of the estrogen receptor beta gene in probands of different weight extremes: identification of several genetic variants.

Estrogens are known to have an inhibitory effect on food intake in rodents and primates. Decreased estrogen levels that are found for instance in menopausal woman and in ovarectomized rodents result in body weight gain. Estrogen can act both in the periphery and in the central nervous system via at least two different estrogen receptors (alpha and beta). We systematically screened the coding region and part of the 5' and 3'regions of the estrogen receptor beta gene (ER beta) in 96 extremely obese children and adolescents, 50 patients with anorexia nervosa (AN), 28 patients with bulimia nervosa (BN), and 25 healthy underweight individuals. We detected five different sequence variants in the ER beta: a) A 21 bp deletion (codons 238 to 244) was detected in two obese probands and an underweight individual. b) An 846G-->A transition leading to a nonconservative amino acid substitution (G-250-S) was found in two obese male probands. Both a) and b) were located within the flexible hinge region between DNA and ligand binding domain. c) For a 1082G-->A polymorphism we found suggestive evidence for an association between the more common 1082G-allele and anorexia nervosa (nominal p=0.04). d) One silent mutation (1421T-->C) was found solely in two obese probands. e) A common variant is located in the 3' nontranslated region at position 1730(A-->G). We did not detect association of this polymorphism to any of the analyzed phenotypes. We conclude that the ER beta harbors several different mutations and polymorphisms, none of which can readily be associated with the phenotypes under study.

Adolescent↗
PubMed1997

Expression of CD44 isoforms in neuroblastoma cells is regulated by PI 3-kinase and protein kinase C.

With respect to a potential role for CD44 in neuronal tumors, we investigated the regulation of variant CD44 exon containing isoforms (CD44V) in the human neuroblastoma cell line SK-N-SH in response to treatment with differentiation-inducing and mitogenic factors. While the standard form of CD44 was expressed at high levels in both treated and untreated cells, variant isoforms were strongly upregulated in response to treatment with 12-O-tetradecanoyl phorbol-13-acetate (TPA), insulin-like growth factor-1 (IGF-1) and platelet-derived growth factor (PDGF) as shown by RT-PCR and immunofluorescence. One of the CD44 isoforms contains sequences encoded by variant exon v6 (CD44V6), which was originally described as a metastasis-associated antigen. Using specific inhibitors, we explored the signal transduction pathways involved in the expression of variant CD44. GF-109203X, a specific inhibitor of protein kinase C effectively blocked TPA- and IGF-1-upregulated expression of CD44v6. Wortmannin, a specific inhibitor of phosphoinositide 3-kinase (PI 3-kinase) partly reduced IGF-1 and PDGF induced CD44v6 expression. The induction of CD44V by TPA, IGF-1 or PDGF was correlated with an increased cellular binding to hyaluronic acid, a major counterreceptor for CD44. The increased binding caused by TPA or IGF-1 could specifically be blocked by the above inhibitors. Thus, PKC and PI 3-kinase are likely to transduce growth factor induced signals that upregulate specific CD44 splice variants.

Carcinogens↗
PubMed1997

Mental illness in homeless women: an epidemiological study in Munich, Germany.

In an epidemiological survey of the prevalence of mental illness in homeless individuals in Munich, Germany, a probability sample of 32 homeless women were interviewed using a standardized diagnostic instrument (Diagnostic Interview Schedule for DSM-III diagnoses). Results point to very high prevalence rates of mental disorders among homeless women. The most frequent diagnostic groups were alcohol and drug abuse (lifetime prevalence rate 90.6%), affective disorders (50.0%), anxiety disorders (43.8%) and schizophrenia (21.9%). Prevalence rates are compared with a female household sample (Epidemiological Catchment Area Study in New Haven, Connecticut). All disorders tended to be more frequent in homeless women as compared with the household sample. Our results show the urgent need to provide medical and other assistance to homeless women. There is a need for adequate psychiatric care, supply with food and housing and the development of concepts for personal and vocational rehabilitation considering the specific needs of women.

Adolescent↗
PubMed1997

[Therapeutic effects of the Feldenkrais method "awareness through movement" in patients with eating disorders].

Based on the movement-pedagogical concept of Feldenkrais and the findings-of disturbed body perception by eating disordered patients this research aimed at studying the therapeutical effects of the Feldenkrais Method "Awareness through Movement" with eating disorder patients, 15 eating disordered patients treated at the Roseneck hospital for behavioural medicine rated-by means of a questionnaire consisting of scales of the Body Cathexis Scale (BCS), the Body Parts Satisfaction Scale (BPSS), the questionnaire for body perception (Fragebogen zum Körpererleben; FKE), the Emotion inventory (Emotionalitätsinventar; EMI-B), the Anorexia-Nervosa-Inventory for Self-rating (ANIS) and the Eating Disorder Inventory-2 (EDI)-various aspects of their eating disorder before and after participating in a nine hour course of the Feldenkrais Method. The data of these patients were compared to those of the members of a control group, also consisting of 15 eating disordered patients who did not participate in a Feldenkrais course. The participants of the Feldenkrais-course showed increasing contentment with regard to problematic zones of their body and their own health as well as concerning acceptance and familiarity with their own body. Other results were a more spontaneous, open and self-confident behaviour, the decrease of feelings of helplessness and decrease of the wish to return to the security of the early childhood, which indicates the development of felt sense of self, self-confidence and a general process of maturation of the whole personality. The outcome points to the therapeutical effectiveness of the Feldenkrais Method with eating-disorder patients within a multimodal treatment program.

Adolescent↗
PubMed1996

[Psychiatric homelessness research. From "psychopathology of the vagrant" to "homeless mentally ill"].

German psychiatrists around 1900 reported that dementia praecox and other mental disorders were common among homeless individuals. On the basis of the concept of psychopathy, homelessness in the 1920s was viewed as an "inferiority of character". The combination of psychiatric diagnosis and social prejudice was used as a justification for the "elimination of abnormal personalities" during the Third Reich. Growing numbers of homeless individuals in the last two decades stimulated a new interest in psychiatric research on the homeless. Larger epidemiological studies show high prevalence rates for severe mental disorders (schizophrenia, affective disorders, substance abuse). This points to the urgent need to develop sophisticated and sensible concepts to deal effectively with the complex problems associated with homelessness.

Germany↗
PubMed1993

Mental and somatic health and need for care in octo- and nonagenerians. An epidemiological community study.

Mental and somatic illness, utilization of psychosocial facilities and need for care in persons aged 85 years and older were examined. Data were based on a representative community sample (n = 402) of Munich city. A total of 358 (89%) subjects of the sample were interviewed, 42 subjects (10.5%) refused, and 2 persons could not be traced. Dementia and depression had the highest prevalence of mental disorders according to the AGECAT (automated geriatric examination for computer assisted taxonomy) computer program of the Geriatric Mental State Interview. In all, 23.6% of the interviewees fulfilled criteria for depression, 25.4% for dementia. We analysed somatic illness according to mental status, the utilization of psychosocial facilities and need for care with regard to mental and somatic illness.

Aged↗
PubMed1992

Hypnotizability in bulimic patients and controls. A pilot study.

Various studies have indicated that bulimics are more easily hypnotized and dissociate more readily than control groups and patients with other eating disorders. A comparison is reported of 15 inpatients with bulimia nervosa (DSM III-R) with 15 subjects in a control group comparable in age and education. The instrument used was the Harvard Group Scale of Hypnotic Susceptibility/Form A (HSGHS:A), which includes 12 standardized test suggestions. The results show that bulimics have higher scores in hypnotizability than the control group. A method study (comparison of self-evaluation with a video recording) shows that this is a result of the behaviour itself and not of the answering pattern used by the subjects in the questionnaire. It is possible that differing expectations regarding the experiment may have influenced the results. Considerations concerning the increased ability of bulimics to dissociate as a causal factor versus an accompanying phenomenon of the disorder are discussed.

Adolescent↗
PubMed1992

The Symptom Check List SCL-90-R and its ability to discriminate between dysthymia, anxiety disorders, and anorexia nervosa.

The factorial and discriminative validity of the Hopkins Symptom Check List SCL-90-R were examined in the light of criticism that clinical self-rating scales primarily express a general distress factor. In a population of 899 psychosomatic patients, high intercorrelations were found between the individual dimensions of the SCL-90-R. A subsequent Principal Components Analysis obtained 9 factors which were markedly less interdependent than those in the original version. The ability of the questionnaire to distinguish between patients with dysthymia, anxiety disorders and anorexia nervosa was examined. The average hit rate in the discriminant analysis was 67% using the original version and 74% with the proposed new factorial structure of the SCL-90-R, confirming the discriminative validity of the inventory. The present results as well as earlier studies suggest that the factor 'anxiety' should be included in the factor 'phobic anxiety', the factors 'paranoid ideation' and 'psychoticism' should be reformulated, and a new factor 'sleep disturbances' should be added to the original version of the SCL-90-R.

Adult↗
PubMed1991

Average total energy expenditure in anorexia nervosa, bulimia nervosa, and healthy young women.

The double-labeled water method was used to measure average daily total energy expenditure (EE) in 11 healthy normal-weight women classified as unrestrained eaters, in 8 patients with anorexia nervosa, and in 8 patients with bulimia nervosa. The body mass index was 20.0 +/- 1.3 kg/m2 in the control group, 15.2 +/- 5.6 kg/m2 in the anorectic groups, and 19.7 +/- 1.9 kg/m2 in the bulimic group. EE was measured over a 2-week period during which weight remained constant in all groups and was 2357 +/- 504 kcal/day for the controls, 2510 +/- 920 kcal/day for the bulimics, and 2899 +/- 656 kcal/day for the anorectics. Differences were not significant among groups. Physical activity was recorded in diaries by all subjects. Anorectic patients showed significantly more activity than all other groups. The data suggest that EE is high in anorectic patients as a consequence of physical activity.

Adult↗
PubMed1990

[Oral complications in patients with anorexia nervosa and bulimia nervosa].

This article presents the oral situation of 11 anorectic and 41 bulimic patients and compares it with 50 healthy control persons. While patients with an eating disorder showed less signs of gingival inflammation (SBI: anorexia: 14.6%; bulimia: 12.5%; controls: 44.7%), they had clearly more enamel erosions than healthy control persons. In 27 of 41 bulimic patients a bilateral swelling of the parotid gland was found. A significant correlation between the parotid enlargement and enamel erosion exists in bulimic patients with an anorectic prephase. Patients with an eating disorder had higher levels of serum amylase than healthy control persons. A significant correlation between serum amylase activity and dental characteristics was found in bulimic patients.

Adult↗
PubMed1989

[Hyperamylasemia in anorexia nervosa and bulimia nervosa. Indication of a pancreatic disease?].

Serum concentrations of amylase, lipase, human pancreatic lipase and phospholipase A were measured in 34 patients (average age 28.5 [18-64] years) with anorexia nervosa (9 patients) and bulimia (25 patients). Hyperamylasaemia was demonstrated in 13 of the 34 patients (38%). But in only two of them was there also an elevated concentration of lipase and human pancreatic lipase. Phospholipase A was normal in all. Only one patient with isolated hyperamylasaemia had cholecystolithiasis, which was asymptomatic. In none of the patients with raised enzyme values was there otherwise any evidence of pancreatic or biliary tract disease, of alcohol or drug abuse, hyperlipoproteinaemia or abnormal renal function. In the great majority of patients with anorexia nervosa or bulimia who had hyperamylasaemia, this could not be ascribed to pancreatic disease. Even in the two patients who also had an increase in lipase and pancreatic isolipase, there was no clinical and ultrasound evidence of pancreatic disease.

Adult↗
PubMed1989

Endocrinological studies in alcoholics during withdrawal and after abstinence.

Several endocrine parameters were assessed in 35 alcoholic inpatients after admission to hospital, and 17 of the 35 were retested after several weeks of sobriety. No difference was found in clonidine-stimulated growth hormone (GH) secretion between male alcoholics and male healthy controls, but significant positive correlations of GH secretion and alcohol content in expired breath on admission and gamma-GT values after abstinence were observed. Nonsuppression in the dexamethasone suppression test was found in 17% of the patients on admission, which seemed to be due to alcohol withdrawal. Postdexamethasone cortisol levels were significantly positively correlated with the "apathic syndrome" (r = 0.40; p less than or equal to 0.05). About one-third of the patients showed a blunted response in the TRH-test both on admission and after abstinence. No significant influence of alcohol intake, withdrawal or familial disposition on prolactin values could be detected. The results of the TRH test and the DST point to similar endocrinological patterns in alcoholics as in depressive patients and thus support the hypothesis of a link between alcoholism and depression.

Adrenocorticotropic Hormone↗