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Biomedical subjects

A Frilling

Publications and source records attributed to A Frilling.

At least 91 records · Page 5Linked to original sources
PubMed1994

[Multiple endocrine neoplasia type 1 (MEN 1). Molecular genetics, morphology and prognosis].

The syndrome of multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant tumour disease of the neuroendocrine system with manifestations in the parathyroids, pancreas, duodenum and pituitary gland and rarely also in the stomach and thymus. Recently, the MEN 1 gene locus has been mapped to the long arm of chromosome 11. This gene most likely belongs to the tumour suppressor genes, the allelic loss of which causes tumour development. The pancreatic and duodenal tumours may metastasize, but usually have a low malignant potential. Clinically, most MEN 1 patients present between the age of 20 and 35 with hyperparathyroidism and/or Zollinger-Ellison syndrome.

Adrenal Glands↗
PubMed1994

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto-oncogene. These included cases of multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial MTC (FMTC). Mutations at one of 5 cysteines in the extracellular domain were found in 97% of patients with MEN 2A and 86% with FMTC but not in MEN 2B patients or normal controls. 84% of the MEN2A mutations affected codon 634. MEN 2A patients with a Cys634 to Arg substitution had a greater risk of developing parathyroid disease than those with other codon 634 mutations. Our data show a strong correlation between disease phenotype and the nature and position of the RET mutation, suggesting that a simple, constitutive activation of the RET tyrosine kinase is unlikely to explain the events leading to MEN 2A and FMTC.

Base Sequence↗
PubMed1994

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

Mutations of the RET proto-oncogene are the underlying cause of some cases of Hirschsprung disease (HSCR) and the inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). In HSCR these mutations are dispersed throughout the gene, while in MEN 2A and FMTC, they are tightly clustered in five cysteine codons of the RET extracellular domain. HSCR and MEN 2 are usually distinct but occasional families have been reported with both diseases. In each of five families with HSCR with or without MEN 2A or FMTC, we have identified a nucleotide substitution in one of the five cysteine codons previously associated with MEN 2A or FMTC. In one family, which had HSCR as its only phenotype, we detected a Cys-->Trp mutation at codon 609 which had not been previously observed. In three families, both HSCR and MEN 2A were associated with a single Cys-->Arg mutation at either codon 618 or 620 of RET. In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus. We suggest that specific mutations in cysteine codons 618 and 620 result in MEN 2A or FMTC, but can also predispose to HSCR with low penetrance.

Base Sequence↗
PubMed1994

Liver transplantation for metastatic carcinoid tumors.

Seven patients with symptomatic metastatic neuroendocrine tumours (6 carcinoids, 1 malignant insulinoma) were referred for liver transplantation. In 5 patients extrahepatic tumor dissemination demonstrated by octreotide scintigraphy contraindicated organ grafting. Due to absence of clinical symptoms, 1 patient is excluded from transplantation at present. Only 1 patient with liver metastases from lung carcinoid underwent transplantation. He is tumor free 10 months postoperatively. Liver transplantation may be regarded as an adequate therapeutic procedure in selected patients with metastatic carcinoids causing malignant carcinoid syndrome.

Carcinoid Tumor↗
PubMed1993

Surgical reintervention for differentiated thyroid cancer.

Reoperation was performed in 110 of 185 patients with a differentiated thyroid carcinoma. In 25 patients (23 per cent) the indication for reintervention was a large thyroid remnant and in the other 85 (77 per cent) persistent or recurrent cancer was suspected. In 32 (29 per cent) of the 110 patients undergoing reoperation no evidence of cancer tissue was found. Tumour tissue in 33 patients (30 per cent) was resectable. Of 45 patients (41 per cent) with residual tumour after operation 24 showed only occult thyroid carcinoma with a raised serum thyroglobulin level. Eight of 21 patients with macroscopically persistent tumour died from the disease during a mean follow-up of 2.3 years. In 13 of 38 patients the investigated recurrent tumours were histologically less differentiated than the primary lesions, stressing the importance of total tumour clearance. The treatment of choice for persistent and recurrent differentiated thyroid carcinoma is surgical reintervention, if feasible, before radioiodine and radiation therapy are considered.

Adenocarcinoma, Follicular↗
PubMed1993

[Experience with presymptomatic screening of patients with C cell carcinoma of the thyroid gland].

Presymptomatic screening of medullary thyroid carcinoma in MEN 2A families enables the early diagnosis of this tumor burdened by significant morbidity. Biochemical screening consists of basal and stimulated serum calcitonin evaluation. Genetic screening is based on DNA analysis using linked DNA markers. Thyroidectomy at an occult tumor stage may provide curative treatment. Calcitonin measurement was carried out in 58 apparently unaffected family members at risk of 11 MEN 2A patients. In 9 individuals calcitonin elevation was detected. All 9 underwent thyroidectomy. Histological examination confirmed medullary thyroid carcinoma in 8 patients and in 1 case C-cell-hyperplasia. Postoperatively 8 patients (89%) are clinically and biochemically tumor-free (mean follow-up 30 months). DNA screening results in one affected family are presented. DNA analysis allowed the recognition of one apparently unaffected individual at risk as MEN 2A gene carrier. One family member at risk was scored as not carrying the gene and may be excluded from further screening.

Adolescent↗
PubMed1992

Are CAT-scans necessary for preoperative localization of insulinomas?

OBJECTIVES: Do CAT-scans provide useful information in terms of preoperative localization of insulinomas after a biochemical diagnosis is established or may CAT-scan imaging be safely abandoned? PATIENTS AND METHODS: CAT-scan results from 30 consecutive patients between 1980-1990 with established insulinomas were retrospectively evaluated with regard to actual tumour size (volume) and identification and localization as verified during surgery. RESULTS: In all patients, the tumours were easily detected by manual palpation during surgery, although the size of 67% of the tumours (n = 20) was less than 2.5 cm3. In only 7 patients (23%) the tumour had been correctly localized by computer tomography. Detected tumours were significantly larger than undetected tumours (median size 5.3 vs 1.3 cm3; p < 0.005). CONCLUSION: Despite the low sensitivity of computer tomography as documented in this study, all patients with an insulinoma were definitely cured after surgical intervention. Thus, CAT-scans are neither necessary nor helpful for preoperative localization of insulinomas.

Adult↗
PubMed1992

Unusual features of multiple endocrine neoplasia.

In addition to the common presentations of the multiple endocrine neoplasia (MEN) syndromes, unusual organ involvement as rare manifestations of a single disease may occur. Among our patients we have identified four cases in which unusual features of MEN were present. In the first patient, bilateral adrenal cortical adenoma, parathyroid adenoma, multiple pancreatic tumors, and follicular thyroid carcinoma were observed. The second patient suffered from thymic carcinoid, parathyroid hyperplasia, gastrinoma, and pituitary adenoma. Additionally, one family was discovered in which medullary thyroid carcinoma (MTC), Hirschsprung's disease, and pheochromocytoma occurred and another family had MTC and ovarian cancer. Based on these observations, we stress the importance of screening for MEN syndromes in all patients with pathologic findings in any endocrine organ.

Adolescent↗
PubMed1990

[Subtotal thyroid gland resection as therapy for thyrotoxic crises].

Thyrotoxic crises occurred in six patients (four women aged 51, 63, 72 and 76 years; two men aged 52 and 63 years). In four patients the crisis was triggered by a contrast medium containing iodine, and in one by amiodarone. The cause of the crisis in the 51-year-old woman remained uncertain. After a latent period of up to two months, T3 and T4 concentrations rose in all the patients, and abnormal findings such as tachycardia, increased blood pressure, dehydration, tremor, restlessness, hallucinations and coma ensued. Because of ineffective conservative treatment, five patients underwent subtotal thyroidectomy. In all five the symptoms and signs of hyperthyroidism were promptly relieved, and the postoperative course was uneventful. The 76-year-old woman was considered unfit for surgery because of her cardiac condition, and she died of left ventricular failure resistant to therapy.

Aged↗
PubMed1990

[A registry of medullary thyroid cancer in West Germany].

A register for medullary thyroid carcinoma (MTC) in FRG has been set up by the "German Medullary Thyroid Carcinoma Study Group" in 1988. The aim is to provide a basis for collaborative work on MTC especially in the hereditary forms (i.e. multiple endocrine neoplasia [MEN] type IIa, IIb). For these hereditary varieties reliable screening tests exist and, if the disease is detected by family screening in an early stage, curative surgery is possible. Until now 408 patients (234 female, 174 male) with MTC have been reported by 17 cooperative centers. The mean age at diagnosis was 45.5 years. 25% (n = 104) are hereditary forms, most of them MEN IIa (n = 86), 13 are MEN IIb and 18 belong to the familial variety without other endocrinopathy. The mean age at diagnosis for MEN IIa was 36.5 years, MEN IIb 26.9 and for the pure familial form 27.5 years. As 33 patients per year have been diagnosed since 1982, nearly 25% of all expected cases of MTC in FRG have been registered.

Adult↗
PubMed1990

Growth regulation of normal thyroids and thyroid tumors in man.

Our studies using thyrocyte membranes from different human thyroid tissues, monolayer cultures of human thyrocytes, and the permanant cell line FTC-133 demonstrate the stimulatory effect of TSH on metabolism, DNA synthesis, and cell growth in human thyrocytes. Up- and down-regulation of cAMP cell content fails to show direct effects on DNA synthesis and cell growth in primary thyrocyte cultures in man. Increased AC responsiveness to TSH in adenomatous human thyroid tissues, when compared to normal thyroids of the same patient (p less than 0.005), is thus of only questionable importance for thyroid tumor growth. The permanant cell line FTC-133 was established from differentiated follicular human thyroid cancer cells. FTC-133 cells proved to be of particular usefulness in assessing growth regulation of human thyroid tissue. These cells could be propagated in serum free medium, showed thyroglobulin immunoreactivity and EGF receptors, lacked any fibroblast contamination, and responded to TSH and local active growth factors such as EGF and IGF with a stimulated [3H]thymidine incorporation. The latter could be shown in primary cell cultures of normal and pathological human thyrocytes as well. Additional to the stimulatory effect of TSH and IGF on [3H]thymidine incorporation, these substances show an additive effect when incubated simultaneously. Locally active growth factors and endocrine growth stimulation by TSH therefore act synergistically on thyrocyte growth in human thyrocyte cultures. Whether the TSH effect on cell growth is related to its stimulation of AC remains as yet questionable.

Adenylyl Cyclases↗
PubMed1990

[Progress in the diagnosis and therapy of C cell carcinoma of the thyroid gland].

Between 1986 and 1989 172 patients were operated on thyroid cancer. Twenty-nine (17%) of them had a medullary carcinoma. In 20 of these patients (69%) the carcinoma occurred in a sporadic and in 9 (31%) patients in a familial form. Eighteen patients (62%) had to be operated because of tumor recurrence and in 4 of them additional surgery was necessary because of distant metastases. Due to tumor recurrence 7 patients underwent multiple operations during the above period. Adequate first operation was performed only in 6 patients (33%). Based on family screening a carcinoma was diagnosed in 4 patients in its occult stage. Diagnostic methods include biochemical and imaging methods. Calcitonin is the most sensitive tumor marker. Basal and stimulated serum calcitonin analysis provides a very efficient method to detect medullary carcinoma in early tumor stage and to treat the disease curatively. DNA-analysis improves early diagnosis of persons at risk.

Adenocarcinoma↗
PubMed1990

[Therapeutic strategy and prognosis of malignant struma].

The systematic application of combined treatment modalities including surgery, radiotherapy and suppressive hormone administration is based on a biologically relevant histomorphologic tumour classification. Although the principle of an aggressive therapeutic approach is still valid meantime a limited radicality has proven equally successful for selected early cases. On the other hand an even extended radical strategy is followed by repeated surgery for local recurrencies and metastatic lesions.

Combined Modality Therapy↗