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Biomedical subjects

L Schaaf

Publications and source records attributed to L Schaaf.

At least 37 records · Page 2Linked to original sources

[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↗

Screening for thyroid disorders in a working population.

Subclinical thyroid disorders have received increasing attention in recent years due to refined laboratory methods and a stronger emphasis on the role of preventive medicine. We performed a screening for thyroid-stimulating hormone (TSH) on 6884 persons in a working population. In cases in which TSH was not within the normal range we also measured the levels of triiodothyronine (T3), thyroxine (T4), and thyroxine-binding globulin (TBG). All persons who did not present with exclusion criteria or other nonthyroidal illnesses (n = 59) and the controls (n = 39) were submitted to thyrotropin-releasing hormone (TRH)-testing. Additionally, sonography of the thyroid was performed on 120 persons (59 subjects with abnormal hormone levels and 61 controls) to determine thyroid size and rule out morphological abnormalities. Based on the TRH test and T3, T4, and TBG measurements we found a prevalence of 0.03% (2/6884) for overt hyperthyroidism, 0.33% (23/6884) for subclinical hypothyroidism, 0.09% (6/6884) for subclinical hypothyroidism, and 0.015% (1/6884) for overt hypothyroidism in the healthy population. In subjects with overt or subclinical hyperthyroidism the prevalence of goiters (thyroid volume > 18 ml in women, > 25 ml in men) was 28%. Of this group 48% had structural abnormalities. All persons with goiters and/or structural abnormalities were over 35 years of age. Among the euthyroid, 20% had thyroid enlargement, and the same proportion presented with structural abnormalities. There were no differences between the two age groups. In the group with overt/subclinical hypothyroidism 47% presented with structural abnormalities of the thyroid; however, none presented with thyroid enlargement. Thyroid nodules were found only in older persons (> 35 years) with euthyroidism or hypothyroidism.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.

The interaction of LDL and LDL subfractions from a patient homozygous for familial defective apoB-100 (FDB) has been studied. His LDL cholesterol ranged from 2.65 to 3.34 g/liter. In cultured fibroblasts, binding, internalization, and degradation of the patient's LDL was diminished, but not completely abolished. The patient's apolipoprotein E concentration was low, and the amount of apolipoprotein E associated with LDL was not elevated over normal. LDL were separated into six subfractions: LDL-1 (1.019-1.031 kg/liter), LDL-2 (1.031-1.034 kg/liter), LDL-3 (1.034-1.037 kg/liter), LDL-4 (1.037-1.040 kg/liter), LDL-5 (1.040-1.044 kg/liter), and LDL-6 (> 1.044 kg/liter). LDL-5 and LDL-6 selectively accumulated in the patient's plasma. Concentrations of LDL-1 to 3 were normal. The LDL receptor-mediated uptake of LDL-1 and LDL-2 could not be distinguished from normal LDL. LDL-3 and LDL-4 displayed reduced uptake; LDL-5 and LDL-6 were completely defective in binding. When apolipoprotein E-containing particles were removed by immunoabsorption before preparing subfractions, LDL-3 and LDL-4, but not LDL-1 and LDL-2, retained some receptor binding activity. We conclude that in FDB, LDL-1 and LDL-2 contain sufficient apolipoprotein E to warrant normal cellular uptake. In LDL-3 and LDL-4, the defective apoB-100 itself displays some receptor binding; LDL-5 and LDL-6 are inable to interact with LDL receptors and accumulate in plasma.

Adolescent↗

Apolipoprotein E to B ratio: a marker for type III hyperlipoproteinaemia.

Apolipoproteins B and E were determined in 40 patients with type III hyperlipoproteinaemia (familial dysbetalipoproteinaemia) and in 48 patients with other types of hyperlipoproteinaemia matched for cholesterol and triacylglycerols. In type III patients, apolipoprotein E was increased and apolipoprotein B was lower than in other types of hyperlipoproteinaemia. The apolipoprotein E to apolipoprotein B ratio almost completely discriminated between type III and other types of hyperlipoproteinaemia. Assuming a cut-off value of 0.09 for the apolipoprotein E to apolipoprotein B ratio, diagnostic sensitivity was 95% and specificity was 88%. It is concluded that the apolipoprotein E to apolipoprotein B ratio represents the first-line screening quantity of choice for the identification of patients with type III hyperlipoproteinaemia in the clinical laboratory.

Adult↗

Mental and physical state in subclinical hyperthyroidism: investigations in a normal working population.

We investigated whether subclinically hyperthyroid individuals selected from a nonpatient working population exhibit similar impairments to those found in studies with patients. Sixteen subclinically hyperthyroid subjects without apparent reason (SH-0) and 15 subclinically hyperthyroid subjects on levothyroxine (SH-T4) were compared with 27 euthyroid controls with respect to signs and symptoms of hyperthyroidism, sleep, depressivity, ability to concentrate, anxiety, and other dimensions of well-being. We found that SH-T4 exhibited significantly higher TT4 levels, TT4/TBG ratios, and more palpitations than controls. Furthermore, they slept less. The SH-0 subjects reported being in a better mood and less touchy than controls. Psychometric results of all groups were within the normal range. A comparison of this study to previous studies reveals that TT4 levels or TT4/TBG ratios may play a crucial role in the development of the predominantly nervous symptoms in subclinical hyperthyroidism. Possible reasons for the discrepancies between results in hospital and nonhospital settings are discussed.

Adult↗

Subclinical hyperthyroidism: physical and mental state of patients.

We investigated whether subclinical hyperthyroidism [subnormal basal thyroid-stimulating hormone (TSH) level, attenuated TSH response to thyrotropin-releasing hormone (TRH) stimulation, peripheral thyroid hormones within normal range] is accompanied by physical and mental changes. Thirty-five subclinically hyperthyroid patients (27 female, 8 male) were compared with 60 overtly hyperthyroid patients (51 female, 9 male) and with 28 euthyroid control patients (18 female, 10 male) with respect to physical symptoms, affective state, short-term memory, ability to concentrate and psychomotor performance. Patients with subclinical hyperthyroidism ranged between the other two groups. The major difference between controls and subclinically hyperthyroid patients was an increase in frequency of nervous symptoms and symptoms due to an increase of metabolic rate and thermal regulation changes. The major differences between subclinically hyperthyroid and overtly hyperthyroid patients were psychomotor impairment and symptoms of increased metabolic rate. Self-ratings of affective state tended to be similar in patients with subclinical and overt hyperthyroidism. The ability to concentrate and short-term memory were not impaired in any group. Symptoms in patients with subclinical hyperthyroidism probably result from central changes which lead to attenuated TSH responses to TRH, or from elevated but still normal thyroxine levels, which possibly enhance the effect of catecholamines.

Adult↗

[The Miller-Fisher syndrome. Report of 5 cases].

Miller Fisher's syndrome is characterized by the symptomtrias of ophtalmoplegia, ataxia and areflexia. Five cases of Miller Fisher syndrome are presented.; the nosological position of this disorder is reviewed. Involvement of brainstem is present in some cases--but obviously facultative.

Aged↗

Regional stimulation of thyroid epithelial cells in Graves' disease by lymphocytic aggregates and plasma cells.

The significance of intrathyroidal lymphocytic infiltration is not known. However, several indirect lines of evidence suggest that interstitial or intraepithelial lymphocytes are the effector or thyroid autoantibody-producing lymphocytes in Graves' disease. This has not been investigated in vivo. Changes of nuclear volume of endocrine cells have previously been shown to be a reliable parameter of functional stimulation of endocrine glands. Therefore we investigated this parameter near and off lymphocytic aggregates, loosely distributed plasma cells and memory T cells in paraffin sections of Graves' disease thyroid glands. In 21 Graves' disease thyroid glands we found significant increases of thyroid epithelial cell nuclear volume near plasma cells (198.4 micron3) as well as near lymphocytic aggregates (219.1 micron3) compared with thyroid epithelial cell nuclear volume one microscopic field away (160.1 and 137.7 micron3 respectively). Similar nuclear volume differences were observed after propanolol and thiourelene antithyroid drug treatment. These nuclear volume differences could not be observed in 10 control thyroid glands and around CD45R0-positive memory T cells in Graves' disease thyroid glands. These direct in vivo investigations of regional functional stimulation of thyroid epithelial cells in Graves' disease show local stimulation near lymphocytic aggregates and diffusely distributed plasma cells. Therefore our in vivo data do not permit to identify stimulatory lymphocytes only interstitially or intraepithelially as previously suggested.

Adolescent↗

Thyrotoxic crisis in Graves' disease: indication for immediate surgery.

Thyrotoxic crisis (thyroid storm) is a rare complication of hyperthyroidism. It can be observed not only in thyroid autonomy with latent hyperfunction after exposure to iodine, but also in Graves' disease with overt hyperfunction. Adequate management of thyrotoxic crisis is still controversial. We report about four patients (four women, mean age 75 years) with Graves' disease who developed thyrotoxic crisis during therapy with antithyroid drugs so that surgical intervention became necessary. The patients had been admitted to the hospital for nonspecific symptoms such as headache, cachexy, and psychosis. Thyroid hormone levels had reached twice the normal range prior to surgery. All patients showed severe neurological deficits leading to coma. In three cases euthyroidism was achieved within two days after surgery. The neurological symptoms disappeared after an average of four days. The postoperative course did not show severe complications and all patients recovered completely. Especially in the elderly a monosymptomatic or nonspecific course of thyroid storm with neurological symptoms may represent a severe and life-threatening situation. In these cases surgery can become necessary even if euthyroidism has not been achieved preoperatively.

Aged↗

Sequential psychological testing during the course of autoimmune hyperthyroidism.

Although the psychological disturbances accompanying Graves' disease are well known, the time required for normalisation of these disturbances during antithyroid drug treatment is not known. Therefore sequential psychological testing during the course of Graves' disease was done. There are also contradictory results concerning the possible correlation of neurophysiological and psychological test results during the course of Graves' disease with thyroid hormone values. Finally, psychological disturbances have been proposed as possible etiologic factors in Graves' disease. In our study, a significant decrease in anxiety and irritability could be observed at the time euthyroidism was achieved. Self-evaluations of depressivity, activity, exhaustion, well-being, extraversion, introversion, and the ability to concentrate changed 1 or 2 months after euthyroidism was induced. Similar test results could be observed after induction of euthyroidism by antithyroid drugs and subtotal thyroid resection. Therefore the mode of therapy does not seem to influence the course of normalisation of psychological parameters. In contrast to other investigations there was hardly any correlation between thyroid hormone values and psychological test results or the ability to concentrate. Nontheless, patients with Graves' disease showing high scores for depression and anxiety exhibit abnormal peripheral helper/suppressor T-lymphocyte relations. Furthermore, patients suffering from Graves' disease tend to be more anxious than controls. It remains to be determined whether an increased susceptibility to psychological disturbances has led to these alterations of lymphocyte subsets in Graves' disease patients with severe depression and anxiety.

Adult↗

The importance of multiple endocrine neoplasia syndromes in differential diagnosis.

In the differential diagnosis of endocrine symptoms, the autosomal dominant multiple endocrine neoplasia (MEN) syndromes are rare but important. We found seven index cases of MEN-I in 176 patients with adenomas of the anterior pituitary and 26 patients with primary hyperparathyroidism. Of 23 cases of medullary thyroid carcinoma and eight cases of pheochromocytoma, 14 patients are classified as MEN-IIa and one as MEN-IIb. Family screening identified six MEN-I and seven MEN-II cases among 32 individuals examined. Because of autosomal dominant inheritance and sometimes-delayed manifestation of the complete syndrome, screening of healthy and affected family members should be repeated at least every other year.

Adrenal Gland Neoplasms↗

Significance of latent hyperthyroidism.

In euthyroidism the circadian rhythm and pulsatility of TSH is well known. With regard to hyperthyroidism only very preliminary data were described. In this study we investigated the secretion pattern of the pituitary-thyroid axis hormones during 24 h in latent and overt hyperthyroidism and in euthyroidism with regard to common and different properties. Blood was obtained for 24 h at 10-min intervals. In euthyroidism we found intraindividually three overlapping patterns of TSH, which are different in amplitude and frequency and can be found interindividually, too. These patterns are equal to the circadian rhythm, pulsatile secretion and lastly to the methodic rustle. The circadian rhythm in latent hyperthyroidism is distinctly suppressed and in overt hyperthyroidism totally. Whereas in latent hyperthyroidism pulsatile secretion is extant, in overt hyperthyroidism the TSH pulses are absent. To record the patients' TSH circadian rhythm with only three blood samples, we defined the TSH-Triplex. In young as well as in elderly healthy volunteers it demonstrated significantly higher TSH levels at midnight (at 24:00 h) than it did at 4 p.m. and 8 a.m. The present study shows a significantly different TSH pattern in latent hyperthyroidism compared to euthyroidism. It should be discussed whether latent hyperthyroidism could be defined as hyperthyroidism stage I. On the other hand, latent hyperthyroidism could be an illness with its own cause, different from hyperthyroidism. Our data suggest that the laboratory findings of latent hyperthyroidism in each age are non-physiological. However, the cause for this disorder is unclear until now; hence further investigations are necessary.

Adult↗