The Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is not associated with obesity or type 2 diabetes mellitus in a large population-based Caucasian cohort.

The beta3-adrenergic receptor (3-BAR) is assumed to play a role in the regulation of energy balance by increasing lipolysis and thermogenesis. A recently detected allelic polymorphism (Trp64Arg polymorphism) has been suggested to contribute to the development of obesity and non-insulin-dependent diabetes mellitus. We examined the prevalence of the two 3-BAR alleles in Germany and looked for associations between 3-BAR genotype and metabolic disorders (obesity and type 2 diabetes mellitus). From over 6450 participants in the Diabetomobile Study, a nationwide epidemiologic study on the prevalence of metabolic disorders (carried out from 1993 to 1996 in Germany), 1259 participants were randomly chosen. The 3-BAR genotype status was determined by 3-BAR gene-specific genomic PCR and consecutive restriction fragment length polymorphism analysis. The frequencies of the different genotypes in the examined cohort were as follows: Trp64/Trp64, 88.3%; Trp64/Arg64, 10.8%; and Arg64/ Arg64, 0.8%. No significant differences between the different genotypes were found when comparing age, body mass index, weight, total and high-density lipoprotein (HDL) cholesterol, fasting insulin, HbA11, and blood pressure; neither did the type 2 diabetes mellitus participants in the different genotype groups differ significantly in terms of age of diabetes onset or HbA11. This is the largest population-based study on the Trp64Arg polymorphism reported yet. The Arg64 allele of the 3-BAR gene was found commonly in Germany. In our cohort, no significant associations between the Arg64 allele and metabolic disorders (e.g. obesity, type 2 diabetes mellitus, dyslipidemia, or hypertension) were detected.

[Acute hemolytic crisis as the initial manifestation of Wilson disease]. / Akute hämolytische Krise als Erstmanifestation eines Morbus Wilson.

A 25-year-old woman who had delivered a normal child after a normal pregnancy four months ago, was suffering from a common cold. The latter was treated by tetracyclines. A few days later she developed an acute severe hemolysis. Moreover she had signs of hepatic failure which was characterized by a considerably reduced synthetic capacity of the liver but low serum aminotransferase levels and a proximal renal tubular disorder. With a negative Coombs test an autoimmune hemolytic anemia was unlikely. Therefore diagnostic procedures were directed at the cause of the liver injury. An increased urinary excretion of copper, strongly elevated levels of liver tissue copper and the detection of a Kayser-Fleischer ring by slit-lamp examination proved the diagnosis of Wilson's disease-presenting clinically only as severe hemolysis. Ceruloplasmin concentration in serum was in low normal range and not diagnostic.

[Inflammatory thyroid diseases]. / Entzündliche Schilddrüsenerkrankungen.

Thyroiditis are common causes of the goitrous enlargement of the thyroid, and comprise a number of inhomogeneous disorders. The only criterion they have in common is an inflammatory infiltration of thyroid tissue. The following diseases belong to this group: Hashimoto's thyroiditis, thyroiditis de Quervain, acute thyroiditis, Riedel's thyroiditis and rare forms of thyroiditis. These diseases are reviewed with regard to incidence, etiology, pathogenesis, clinical features, diagnosis and treatment.

Toward the elimination of homologous blood use in elective lumbar spine surgery.

Two hundred twenty-four consecutive patients underwent elective posterior lumbar spinal surgery over a 3 1/2-year span at the University of Miami/Jackson Memorial Medical Center. Patients ranged in age from 17 to 87 years, and 58% were male. Fifty-eight patients underwent revision surgery, and 65 patients required fusions, including 35 necessitating internal fixation. One hundred seventy-four patients (78%) were requested to participate in a preoperatively donated autologous blood (PDAB) program. Six of these patients were excluded from participation, and 168 patients banked 425 U of autologous blood. Eighty percent of the patients participating in the PDAB program received some or all of their donated blood. Intraoperative blood salvage was used in 37% of cases. Seven patients received homologous blood: four in addition to salvaged and donated blood, two that were unable to donate blood due to positive hepatitis B serology, and one erroneously. The combined use of PDAB and intraoperative salvage program allowed autologous blood replacement to meet the total transfusion requirements of 96% of the patients who predeposited blood, including 94% of those undergoing spinal fusions. Autologous blood comprised 99% of the total blood replacement used in this series, and 95% of the patients requiring blood transfusions received only autologous blood. Establishment of a protocol judiciously using PDAB in conjunction with intraoperative blood salvage can result in virtual elimination of the need for homologous blood transfusion in elective lumbar spine surgery.

Initial-impression diagnosis using low-back pain patient pain drawings.

Patient pain drawings were blindly selected from five lumbar spine disorder categories. The drawings were classified by low-back physicians, discriminant analysis, and several computerized artificial neural network configurations. The purpose was to determine the reliability of the patient pain drawing when diagnosing low-back disorders and to delineate the pain mark patterns particular to each disorder by comparing physicians with computerized methods. The physicians averaged 51% accuracy with individual preferences for certain disorder groups. The computerized methods demonstrated comparable accuracy (48%) and more agreement in classification. Associations were found between the predicted pain patterns for each diagnostic group made by an expert and the patterns generated by computerized methods. Variances in these associations are instructive to clinicians for making accurate predictions of diagnosis from pain drawings.

Expert performance in low-back disorder recognition using patient pain drawings.

Eight low-back-pain experts who regularly include pain drawings in their clinical workup were asked to classify 25 drawings. The experts used only the drawings to place cases into one of five broadly defined diagnostic categories: benign disorder, herniated disc, spinal stenosis, underlying disorder, or psychogenic disturbance. The physicians demonstrated adequate accuracy--51% correct--when compared with change (20% correct). Classification accuracy was greatest for psychogenic disorders (85%), followed by spinal stenosis (58%), herniated discs (52%), and benign disorders (50%). Predictions were comparatively poor for the underlying disorder category (10%). The individual physician accuracies varied from 44 to 60%. "Classic" pain patterns for each disorder group were identified by determining which drawings were correctly classified by most physicians. Physicians may wish to impart greater significance to pain drawings close to one of our "classic" patterns than to others.

Relapse of Graves' disease following development of a pheochromocytoma.

Catecholamines stimulate thyroid hormone synthesis as well as release of thyroid hormone and cause immunologic disturbances that possibly contribute to the manifestations of Graves' disease. This has led to repeated speculations about the possible role of catecholamines in the initiation and maintenance of hyperthyroidism. We describe a patient with Graves' disease who was treated with antithyroid drugs for 2 years. After withdrawal of antithyroid drugs, the patient was in remission for 5 years. After the antithyroid drug treatment and the long remission, the probability of relapse of Graves' disease was very low. Nonetheless, a relapse did occur. Two years after subtotal thyroid resection, further investigation because of persistent hypertension revealed a pheochromocytoma. Retrospective anamnestic data suggest that this pheochromocytoma had been present 2 years before the patient's relapse of Graves' disease. This sequence of diseases has not been described previously. The low probability for a Graves' disease relapse in this patient and the association of this patient's relapse with the manifestation of a pheochromocytoma suggest a possible etiologic role of excess catecholamine production in the relapse of Graves' disease.

Statistical diagnosis of lumbar spine disorders using computerized patient pain drawings.

Discriminant analysis is applied to 250 quantified low back patient pain drawings to study the ability of a computerized statistical method for classifying novel cases into one of five clinically-significant lumbar spine disorders. Tests on independent data were 46.2 percent (%) correct overall. Benign disorder (55.6%), herniated disc (51.7%), and psychogenic (56.3%) pain drawings were more accurately discriminated than the spinal stenosis (32.2%) and underlying disorder cases (35.2%). It is concluded that computerized patient pain drawings provide valid "initial impressions" of lumbar spine disorders. Further research is suggested to better distinguish between herniated disc and spinal stenosis pain descriptions, and for better recognition of serious underlying disorder pain drawings.

Evidence for a role of anti-idiotypic antibodies in the induction of remission in Graves' disease.

Serum and Ig samples obtained from a patient with Graves' disease during exacerbation and remission were evaluated in the nu/nu bioassay. Blocking of the exacerbation serum's biological activity was demonstrated by several biological assay parameters after it was mixed with the remission serum. Since this blocking effect can be ascribed to immunoglobulins, anti-idiotypic antibodies in the remission serum and immunoglobulin samples are the most likely cause of this blocking effect. Therefore a role of anti-idiotypic antibodies in the induction of remission in Graves' disease is postulated.