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U Tuschy

Publications and source records attributed to U Tuschy.

At least 19 recordsLinked to original sources
PubMed2003

HLA-DQA1*0301-associated susceptibility for autoimmune polyglandular syndrome type II and III.

No significant differences were reported for the frequency of DR3-DQ2 and DR4-DQ8 haplotypes in a recent study of one of the largest cohorts worldwide of patients with isolated Addison's disease compared to patients with APS II. However, previous studies had suggested that the HLA-DQ genes, especially DQA1*0102, may be a genetic marker for resistance to autoimmune thyroid disease, which is the most frequent disease in APS II or III. Until now, HLA-DQA1 alleles have not been systematically investigated in APS. We determined the HLA-DR and HLA-DQA1 association in 112 unrelated patients with APS II (n = 29), APS III (n = 83) and 184 unrelated patients with single-component diseases without further manifestations of APS: Graves' disease (n = 70), Hashimoto's thyroiditis (n = 53), autoimmune Addison's disease (n = 15), vitiligo (n = 16) and alopecia (n = 30), and 72 healthy controls - German Caucasians - to identify possible predisposing and protective HLA class II alleles in APS. In agreement with previous studies, we detected a significantly higher frequency of DR 3 and/or DR 4 in patients with APS II and III compared to controls. In patients with APS II, we detected a significantly higher frequency of DQA1*0301 and *0501 compared to controls confirming the increased frequency of an extended HLA DRB1-*04-DQA1-*03-DQB-*03 haplotype as previously described. In contrast, only DQA1*0301 was increased in our patients with APS III compared to controls. Moreover, we detected an increased frequency of DQA1*0301 in patients with APS, whereas DQA1*0301 was only significantly elevated in alopecia in patients with single-component diseases without APS. Therefore, our results indicate an association between DQA1*0301 and APS II or III since this allele was otherwise not significantly associated with any of its component diseases except alopecia. Moreover, our data imply that the allele DQA1*0301 is a marker of increased risk for further APS manifestations in patients who suffer from an organ-specific autoimmune disease.

Addison Disease↗
PubMed2003

Prolactin receptor signaling during platelet activation.

Prolactin is a newly recognized platelet coactivator that functions through potentiation of ADP-induced platelet activation. However, the possible association between hyperprolactinemia and venous thromboembolism (VTE) has not been systematically investigated up to now; prolactin signaling mechanisms in platelets still need to be elucidated. In this study, plasma prolactin levels in healthy subjects and patients with VTE were determined, demonstrating that patients with VTE and no other congenital risk factors had significantly increased plasma prolactin levels. Moreover, prolactinoma patients demonstrated a higher incidence of VTE than the general population. To elucidate the molecular mechanisms for the development of venous thrombosis, prolactin receptor signaling during platelet activation was investigated with a focus on ADP-stimulated G-protein-regulated signaling pathways. The short isoform of prolactin receptors was detected on platelets. Signaling through this receptor, although not directly linked to Gq-proteins, substitutes for Gq-protein regulated signaling pathways involved in platelet activation. We identified protein kinase C, a well-established signaling molecule in platelet activation, as a target molecule for prolactin signaling pathways in human platelets. Our findings indicate that hyperprolactinemia may be an important novel risk factor for VTE, suggesting that its thrombogenic effect may be mediated through enhanced platelet reactivity. Revealing the molecular mechanisms of prolactin signaling will allow the design of new antithrombotic therapies.

Adult↗
PubMed2002

Prediction of remission or relapse for Graves' hyperthyroidism by the combined determination of stimulating, blocking and binding TSH-receptor antibodies after the withdrawal of antithyroid drug treatment.

The most likely reasons for the low predictive value of TSH-receptor antibodies (TRAbs) determinations in previous investigations are the biological heterogeneity of TRAbs and changes of the different stimulating (TSAb) or blocking (TSBAb) antibody bioactivities of TRAbs during the course of Graves' disease (GD), which have not been taken into account in most previous studies. Furthermore, in a recent study it has been demonstrated that the decline of TRAb values detected with highly sensitive hTBII or TSAB assays is not useful in evaluating remission or relapse of GD at the end of antithyroid drug treatment (ATDT). In order to make a thorough investigation of the predictive values of all different TRAb qualities for the recurrence for GD after the withdrawal, we investigated hTBII, TSAbs and TSBAbs in 54 consecutive patients with GD at the end of ATDT and 12 - 13.5 months after stopping ATDT. Using the TRAb values at the time of reinvestigation in a model, recurrence for GD was better predicted compared to the determination at the time of withdrawal of ATDT. Furthermore, using this model, the combined determination of hTBII, TSAbs, and TSBAbs revealed the highest level of significance for the prediction of remission or relapse of GD (OR = 15; p < 0.0001) compared to the detection of hTBII, TSAbs and TSBAbs alone. Therefore, significant changes of TSAbs after the end of ATDT and the biological heterogeneity of TRAb define the conditions for predicting remission or relapse of GD after ATDT by TRAb determinations. Consequently, our results suggest that the prediction of the individual course of GD can only be improved by combined determinations of all TRAb qualities (hTBII, TSAbs and TSBAbs) after the end of ATDT.

Adult↗
PubMed1998

[Reduced incidence of side-effects of growth hormone substitution in 404 patients with hypophyseal insufficiency. Results of a multicenter indications study].

BACKGROUND: Substitution of pituitary insufficient patients with recombinant human growth hormone (rhGH) in addition to the conventional substitution with glucocorticoids, L-thyroxine and sex hormones has been approved by the regulatory authorities in 1995 with the imposition to conduct surveillance studies to monitor drug safety. RESULTS: 24% of all patients were within their 2nd treatment year, 15% within their 4th year, maximum treatment period was 6 years. There were 2 peaks within the patients age distribution: 30 to 39 years (24%) and 50 to 59 years (24%). The causes for pituitary disease were as follows: pituitary adenomas (47%), idiopathic (16%), craniopharyngeomas (16%) and others (21%). Mean GH dose was 1.5 IU/d s.c. (range 0.4 to 4 IU/d). Serum-IGF-1 increased by 159 and 192% in females and males. Waist circumference decreased by 2% and serum cholesterol was lowered by 5.5% in males. There were 2 cases with new carcinomas, 1 diabetes mellitus II and 1 death. Adverse events (AEs) within KIMS were compared to those of the treatment (GH) and placebo (PI) groups of the previous admission trials (in percent): edema: KIMS 10, GH 37, Pl 3; arthralgia: KIMS 8, GH 19, Pl 2; muscle pain: KIMS 3, GH 16, Pl 3; dizziness: KIMS 2, GH 1, Pl 3; headache: KIMS 2, GH 3, Pl 2; others: KIMS 2, GH 22, Pl 13. The reported incidence of AEs in KIMS was lower than in previous clinical trials. There might be 3 reasons for this: 1. under-reporting, particularly those AEs not likely to be related to GH treatment; 2. doses used in trials were 2-fold higher than in KIMS; 3. dose titration for individual patients. CONCLUSION: Surveillance programs are important for monitoring of drug long-term efficacy and safety.

Adolescent↗
PubMed1994

[Diagnosis, therapy and screening of multiple endocrine neoplasia type I (MEN I) in four endocrinologic centers].

BACKGROUND: Multiple endocrine neoplasia type I (MEN I) is a hereditary disease characterised by involvement of several endocrine organs (parathyroid, anterior pituitary, pancreatic islet cells and other). In order to build up a German MEN I-register a questionnaire was developed. PATIENTS: In four centres we diagnosed 29 cases of MEN I (average age 53 years, range 27 to 72 years, 21 women, eight men). RESULTS: In 25 patients (86%) we found a primary hyperparathyroidism, in 15 patients (52%) an adenoma of the anterior pituitary (seven patients with growth hormone-secreting adenomas, five patients with prolactinomas, two patients with hormone-inactive and one patient with an ACTH-secreting adenoma), in ten patients (34%) a neoplasm of the pancreatic islet cells (six patients with gastrinomas, four patients with insulinomas and two patients with multihormone tumors) and in ten patients (34%) other endocrine tumors (five carcinoid tumors, three adenomas of the adrenal cortex, one papillary thyroid carcinoma and one thymic tumor). In nine cases nephrolithiasis was the leading symptom of primary hyperparathyroidism. All female patients with prolactinomas developed secondary amenorrhea. In three cases gastrinomas caused duodenal ulcers and three insulinomas were detected by fasting hypoglycemia. A primary hyperparathyroidism was most frequently combined with an adenoma of the anterior pituitary (21%). Detailed screening of 13 families early revealed MEN I in eleven cases. CONCLUSIONS: The manifestation of an endocrine disease in MEN I should initiate further diagnostics. Having established the diagnosis of MEN I, a meticulous work-up of all family members is warranted. The set-up of a register by the successfully tested questionnaire will support these activities and facilitate further research of new genetic markers, follow-up and treatment.

Adult↗
PubMed1992

Experience in management of diminished growth in adolescent Turner's syndrome patients.

The aim in the management of patients with Turner's syndrome, besides substitution of sexual steroids, is the attempt to improve their final height. The data allow therapeutic recommendations, which, however, realize only the first intention. The final height, indeed, cannot be improved by traditional methods. Further two alternatives remain to be tested: long time low dose estrogen therapy, and high dosed HGH application.

Adolescent↗
PubMed1991

Methimazole and agranulocytosis--clinical study.

The paper deals with agranulocytosis as one of the side effects of methimazole. The analysis of 7 cases allows some conclusions in respect to prevention, early detection and treatment of this rare but serious complication.

Adult↗
PubMed1990

[Adult myeloneuropathic variant of adrenoleukodystrophy with Addison crisis].

In a 32-year-old patient on account of an insufficiency of the adrenal cortex as well as of a leg-related tetraspasticity with a simultaneous subclinical peripheral neuropathy after exclusion of other endocrine and neurological diseases which are to be regarded differential-diagnostically the diagnosis of a myeloneuropathic adult variant of the adrenoleukodystrophy, the adrenomyeloneuropathy, was made. The disease in question is an x-chromosomally inherited disease, the basis of which is a metabolic disease in the destruction of long-chained fatty acids as basal disturbance. The cerebral radiologic exclusion diagnostics was made with CCT and MRT. On the basis of the literature the differential-diagnostic problems of this rare subspecies of the adrenoleukodystrophy which is at present causally not to be treated are discussed and it is referred to the clinical conclusions concerning a timely hormonal substitution therapy and genetic consultation.

Addison Disease↗
PubMed1990

Spontaneous growth in Turner's syndrome.

The natural course of growth in Turner's syndrome is demonstrated on the basis of growth data from untreated patients. The mean adult height was found to be 145.5 cm (range 136-166 cm), the growth curve was similar to that in comparable studies. A decreased growth potency of skeletal (and other) cell populations seems to be the causal defect, beginning with intrauterine growth retardation. Special other causes like metabolic or endocrine changes could be excluded.

Adolescent↗
PubMed1988

[Ullrich-Turner syndrome in adolescence and adulthood. Endocrinologic studies].

The systematic hormone analyses in patients with Turner's syndrome which up to now were not performed in the size demonstrated do not show beyond the gonadotropic regulating circle any clues to practice relevant disturbances of the hypothalamo-pituitary centres of the classical endocrine regulating circles and in the secretion of steroids. However, an importance is ascribed to the occasional pathological androgen levels, in the individual case therapeutic consequences may be the result (substitution of the deficiency is ascertained, extirpation of the gonads in a tumour with hypersecretion of androgen). The functional investigations of the gonadal regulating circle are of outstanding importance. The diagnostic, therapeutic and prognostic assessment concerning a possible endocrine ovarial residual activity is without doubt possible on the basis of the gonadotropin values.

Adolescent↗
PubMed1988

[HLA typing in Ullrich-Turner syndrome].

33 female patients with established anomaly of gonosomes were examined for the problem of a possible connection of the disease with certain types of HLA. An accumulation of individual specificites of HLA cannot be proved summarizingly; there are no significant differences to the control group. Remarkable and at present not yet to be interpreted is, however, the exclusive occurrence of the HLA-A1 in the 45,X-karyotype and iso-X-chromosomes, which needs further investigations.

Female↗
PubMed1987

[Paraneoplastic endocrinopathies].

After the presentation of the definition and of several historical data the present pathophysiological imaginations concerning the problems of the ectopic hormone production are sketched which nowadays not yet have accepted a definitive form. A survey of the at present ascertained paraneoplastic endocrinopathies and several own findings allow a valuation of the significance of these phenomena in practice, taking into consideration the literature.

Hormones, Ectopic↗
PubMed1987

[Diagnosis and differential diagnosis of primary empty sella].

A report is given on 12 patients (6 men, 6 women) presenting primary Empty Sella who were admitted as inpatients with a provisional diagnosis of a hypophyseal tumour. The most frequent first symptom was uncharacteristic cephalgia. Visual disturbances and an impairment of potency/libido were only mentioned in the second place. 5 of the 12 patients were adipose and overweight, 2 of them additionally showed hypertensive blood pressure values. 2 female patients suffered from galactorrhoea. The typical "Empty Sella Patient" frequently described in the literature - the overweight medium-aged woman was an exception among our patients. Besides the ascertainment of the ophthalmological findings and the performance of a complete endocrinological function diagnosis the respective radiological diagnosis was established: native sellar picture, sella tomography, computer tomography, angiography and pneumocephalography. A high informative value in the differential-diagnostic demarkation from a hypophyseal tumour has until now been attributed to pneumoencephalography with an intracellar accumulation of air being considered to prove the presence of an empty sella. Under modern examination conditions, however, a computer-tomographic clearing will in most cases be possible.

Adult↗