Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

Germline loss-of-function mutations of TSH receptor (TSHR) gene have been described in families with partial or complete TSH resistance. Large TSH elevations were generally found in the patients with homozygous or compound heterozygous mutations. In this study, we sequenced the entire TSHR gene in a series of 10 unrelated patients with slight (6.

[Psychooncological aspects in the care of females in HNPCC families].

HNPCC families are characterized by a genetic predisposition for colorectal and other cancers. In Düsseldorf we pursue an interdisciplinary counselling approach (geneticists, psychologists and surgeons). Apart from the genetic counselling itself, special emphasis is placed on the benefits of surveillance and screening recommendations.

Multigenerational familial medullary thyroid cancer (FMTC): evidence for FMTC phenocopies and association with papillary thyroid cancer.

Background: Occurrence in a familial setting is well established for medullary thyroid carcinoma (MTC) and has been more recently reported for papillary thyroid cancer (PTC). Germline mutations or rearrangements of the RET proto-oncogene are the genetic background of the majority of hereditary MTCs and of about 25-40% of PTCs.

Patients: A large multigenerational familial medullary thyroid cancer (FMTC) family, comprised of four generations and a total of 60 subjects, has been fully evaluated.

[Influence of ascorbic acid on anastomosis and in jejunal loop in rat].

Background: The effects of vitamin C on anastomotic healing process are controversial.

Objective: To compare the jejunal anastomotic tension and in the upright segment in different postoperative periods.

Method: Fifty male rats weighing 250 to 400 grams were submitted to laparotomy.

A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.

Objective: Clinical and genetic investigations were undertaken in a case of familial hyperthyroidism, with onset of thyrotoxic symptoms varying between childhood/adolescence.

Methods: Automatic sequence analysis was carried out of the TSH receptor (TSHR) gene. Functional studies were undertaken of mutant TSHR in transient expression experiments in COS-7 cells including the evaluation of cAMP accumulation and of protein expression by flow cytometry, as well as the calculation of specific constitutive activity (SCA).

Absence of thyroid transcription factor-1 expression in human parathyroid and pituitary glands.

Thyroid transcription factor-1 (TTF-1), a tissue-specific nuclear transcription factor involved in the embryogenesis and differentiation of human thyroid, lung and brain, has been recently identified in other rat tissues, including parafollicular C cells and parathyroid chief cells. Based on this distribution, a possible role for this factor in calcium homeostasis has been suggested. This study investigated the presence of TTF-1 transcripts and protein in human tissues expressing the calcium sensing receptor (CaSR).

Role of diabetes in influencing leptin concentration in elderly overweight patients.

Background: Leptin, the product of the ob gene, could have a significant role in the pathogenesis of obesity and non-insulin-dependent diabetes mellitus. However, it is still debated whether different degrees of glucose tolerance may affect plasma leptin concentrations in obese patients.

Objective: To investigate whether diabetes might influence leptin concentrations in obese patients.

Key role of Shc signaling in the transforming pathway triggered by Ret/ptc2 oncoprotein.

The RET/PTC oncogenes, generated by chromosomal rearrangements in papillary thyroid carcinomas, are constitutively activated versions of protoRET, a gene encoding two protein isoforms of a transmembrane tyrosine kinase receptor. By using Ret/ptc2 short isoform (iso9), we have previously demonstrated that Tyr586 (Tyr1062 of protoRet) is the docking site for both the PTB and the SH2 domains of Shc. To determine the relevance of this interaction for the transforming activity of Ret/ptc oncogenes, we have generated and characterized novel Ret/ptc mutants unable to activate Shc: Ret/ptc2 long isoform (iso51)-Y586F and both isoforms of Ret/ptc2-N583A.

Plasma homocysteine, methylenetetrahydrofolate reductase mutation and carotid damage in elderly healthy women.

Plasma homocysteine (Hcy) is an independent vascular risk factor. Its remethylation to methionine is regulated by the activity of the enzyme 5,10-methylene tetrahydrofolate reductase (MTHFR). A C-to-T substitution at nucleotide 677 of the MTHFR gene is frequently associated to hyperhomocysteinemia.

Lack of antitumor activity of recombinant endostatin in a human neuroblastoma xenograft model.

Patients with metastatic neuroblastoma are rarely curable with currently available therapy, and the search for new treatment options, which include the use of inhibitors of tumor angiogenesis, is warranted. Here, we have evaluated the efficacy of one of the most promising natural inhibitors of angiogenesis described to date, endostatin, in a human neuroblastoma xenograft model in nude mice. Murine endostatin cDNA was cloned in a bacterial expression vector, expressed as a polyHis-Endostatin fusion protein and purified on Ni2+-NTA beads.

IL-4 prevents the blockade of dendritic cell differentiation induced by tumor cells.

Malignant cells may escape from the immune response in vivo because of a defective differentiation of professional antigen-presenting cells (APCs), i.e., dendritic cells (DCs).

The relationship of plasma glucose and electrocardiographic parameters in elderly women with different degrees of glucose tolerance.

Plasma glucose has been regarded as a risk factor for macrovascular complications in diabetes, but less is known about its role in the development of cardiac impairment other than coronary heart disease (CHD). The aim of our study was to determine the relationship between basal and post-OGTT (Oral Glucose Tolerance Test) plasma glucose levels and some ECG parameters in a group of elderly women with normal or impaired glucose tolerance (IGT). One-hundred and one women with normal fasting glucose (<6.

Induction of specific phosphodiesterase isoforms by constitutive activation of the cAMP pathway in autonomous thyroid adenomas.

Thyrocytes largely depend on cAMP signaling for replication and differentiation. This pathway may be constitutively activated by mutations of the TSH receptor (TSHR) and Gsalpha in autonomous thyroid adenomas (ATAs). Because steady state cAMP results from production by adenylyl cyclase and degradation by phosphodiesterases (PDEs), we evaluated PDE activity and expression in ATAs with wild-type and mutant TSHR and Gsalpha.

Relationship between metabolic glycaemic control and platelet content of glutathione and its related enzymes, in insulin-dependent diabetes mellitus.

The relationship between glycaemic metabolic control and intracellular concentration of reduced glutathione (GSH) and related enzymes GSH-peroxidase (GSH-Px), GSH-reductase (GSH-Red), GSH-transferase (GSH-Tr), glucose-6-P-dehydrogenase (G6PDH), and thioltransferase (TT) in patients with insulin-dependent diabetes mellitus (IDDM) is controversial. Choosing platelets as cell model (as commonly done in previous studies), the aim of this study was to relate the platelet content of GSH and related enzymes to glycaemic metabolic control, expressed as glycated haemoglobin (HbA1c), as well as to presence of retinopathy and nephropathy in 114 IDDM patients. As compared to controls, both GSH and GSH-Red (geometric means (95% CI)) were significantly increased in platelets of diabetic patients: 3.

Liposarcoma involving the periodontal tissues. A case report.

Liposarcomas constitute 15 to 20% of all soft tissue tumors. They are extremely rare in the head and neck and in the oral cavity. A 30-year-old patient was seen for a soft, painless mass in the right palate.

The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein.

Mutations of the RET gene, encoding a receptor tyrosine kinase, have been associated with the inherited cancer syndromes MEN 2A and MEN 2B. They have also further been associated with both familial and sporadic medullary thyroid carcinomas. Missense mutations affecting cysteine residues within the extracellular domain of the receptor causes constitutive tyrosine kinase activation through the formation of disulfide-bonded homodimers.

Diagnosing mental disorders in primary care: the General Health Questionnaire (GHQ) and the Symptom Check List (SCL-90-R) as screening instruments.

Background: The treatment of mental disorders in Germany is mainly done by primary care physicians. Several studies have shown that primary care physicians have difficulty in diagnosing these disorders. Recently, several self-report questionnaires have been developed that can be used as screening instruments to identify psychopathology in primary care settings and in the community.

Gastric and gingival localization of mucosa-associated lymphoid tissue (MALT) lymphoma. An immunohistochemical, virological and clinical case report.

Non-Hodgkin's lymphomas (NHL) of the mucosa-associated lymphoid tissue (MALT) are characterized by their mucosal and glandular tissue localization. The case described here falls into the European-American classification of a low-grade B-cell lymphoma of the MALT type, with a gingival lesion 2 years after a gastric lesion. The pathogenetic mechanisms of NHL in oral MALT and the diagnosis and treatment are discussed.

Bone-hydroxyapatite interface in retrieved hydroxyapatite-coated titanium implants: a clinical and histologic report.

Two hydroxyapatite-coated implants were retrieved after 12 months of loading because of a fracture of the abutments. The specimens were treated to obtain thin ground sections, and a microprobe chemical analysis was done under a scanning electron microscope equipped with an energy-dispersive x-ray analysis and cathodoluminescence system. Under light microscopy, close contact between the bone and the hydroxyapatite coating was seen, with no gaps at the interface.

[Diagnosis and management of patients with psychogenic disorders in family practice. Results of a field study].

The majority of patients with psychological disorders are seen in primary care. The diagnosis of the general practitioner (GP) influences decisively the subsequent treatment. Our study provides an insight into GP's diagnosis and treatment.

Paraneoplastic pemphigus: a report of two cases.

Paraneoplastic pemphigus (PNP) seems to be a separate autoimmune mucocutaneous disease. Forty-five cases have been reported. Almost all cases of PNP are associated with a tumour, mostly with haematologic malignancies.