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1/301. Spiraling out of control: one case of pathologic anxiety as a response to a genetic risk of cancer.

    The threat of cancer can result in an existential crisis characterized by feelings of uncertainty and fear. anxiety, the most common response to the threat of cancer, may be expressed in ways as varied as individual personalities and circumstances. It is a normal response to the threat of cancer, but in some it may deteriorate to pathologic anxiety and manifest somatic or avoidant patterns. Members of families diagnosed with genetic mutations that predispose to cancer are unique in that they experience a complex chain of life events. People affected with genetic mutations that increase the risk for the development of cancer may be at greater risk of manifesting abnormal anxiety. Little research exists that can guide the health professional in meeting the needs of these individuals, which leads health practitioners to approach their needs on the basis of combined theoretical assumptions about the needs of people with cancer, people who have family members with cancer, and people with recurrent cancer. Some factors may be assessed by the health professional as an aid in identifying an individual at increased risk of developing a psychopathology. These factors include age and developmental level, existence of a previous psychologic disorder, and family integrity. Advanced practice nurses may effectively intervene in the care of these patients by (a) accurately assessing the risk for and extent of the anxiety reaction in individuals and family members; (b) developing management plans that include ongoing support, education, psychotherapy, and pharmacotherapeutics for the individual; and (c) support and psychotherapy for the family. In this article, the pathologic anxiety experienced by one adolescent girl diagnosed with a genetic mutation that caused multiple endocrine neoplasia 2a is addressed, along with the treatment of her avoidant anxiety disorder--trichotillomania. ( info)

2/301. paraganglioma as a systemic syndrome: pitfalls and strategies.

    Tumours of the neuroendocrine system in the head and neck region are mostly paragangliomas of the glomus tympanicum or jugulare, or of the carotid body. The majority of these tumours are benign, and the coexistence of multiple paragangliomas seems to be rare. Pre-operative embolization and surgery are regarded as primary therapy for these tumours. The treatment regimen in any patient depends on age, general health, hearing status and the function of the lower cranial nerves. Several presentations are possible in which paragangliomas occur as systemic disease. 1. Paragangliomas may occur bilaterally, or, in rare cases, in multiple areas. Pre-operative bilateral angiography is of utmost importance. In case of multicentricity, it might be necessary to proceed without, or just with, unilateral surgery for preservation of adjacent structures. In surgery of jugular vein paraganglioma, we usually perform a modified transmastoidal and transcervical approach with preservation of middle-ear structures and the ossicles. As an alternative or supplement to surgery, radiotherapy or definitive embolization may be used in the treatment of paragangliomas. 2. Paragangliomas may occur as multiple endocrine neoplasia (men) syndrome combined with medullary thyroid gland carcinoma, and, facultatively, pheochromocytoma. In these cases, endocrinological examination and magnetic resonance imaging (MRI) of the adrenal region, the thorax and the neck are required for an adequate therapeutic strategy. As men may be inherited, family history should be evaluated. 3. Paragangliomas can became malignant and metastasize. Thus, cervical lymph node metastases or distant metastases may occur. We recommend the removal of all ipsilateral lymph nodes and their histological examination. ( info)

3/301. A new pattern of multiple endocrine adenomatosis: chemodectoma, bronchial carcinoid, GH-producing pituitary adenoma, and hyperplasia of the parathyroid glands, and antral and duodenal gastrin cells.

    A female patient was found to have a chemodectoma, a GH-producing pituitary tumour and a bronchial carcinoid combined with hyperplasia of the parathyroids and of antral and duodenal gastrin cells. This combination of endocrine tumours and hyperplasias does not fit with the two multiple endocrine adenomatosis syndromes recognized at present. The case stresses the importance of scanning the patient for other endocrine tumours, once one has been diagnosed. ( info)

4/301. Multiple endocrine adenomatosis of mixed type.

    A case of multiple endocrine adenomatosis (MEA) of mixed type is presented. The syndrome, observed in a 65 year-old female, consisted of multiple neurofibroadenomatosis, medullary thyroid carcinoma, multiple adenomata of the parathyroids, adrenal cortical adenoma and small cell anaplastic bronchogenic carcinoma. Thus, it was composed of type 1 as well as of type 2 MEA. On the basis of another seven cases, collected from the literature, the MEA syndrome of mixed type is reviewed with special reference to the phylogenetic origin of the cells of the APUD system. ( info)

5/301. The relationship of the serum gastrin and calcium concentrations in patients with multiple endocrine neoplasia type I.

    The relationship between the serum gastrin and calcium concentrations has been examined in patients with multiple endocrine neoplasia type I. Variations in gastrin concentrations were induced by metiamide and secretin; calcium concentrations were altered by parathyroidectomy and by calcium infusion. Changes in the serum gastrin concentrations were not accompanied by changes in the serum calcium concentration. However, alteration of the serum calcium was accompanied by significant parallel changes in the serum gastrin. It is concluded that acute changes in the serum calcium may induce changes in the serum gastrin. parathyroidectomy in these patients produced a fall in the serum gastrin, but the ability to produce large quantities of gastrin remains. It is postulated that the thyro-parathyroid hormones may modulate the relationship between calcium and gastrin. ( info)

6/301. Glomus faciale, glomus jugulare, glomus tympanicum, glomus vagale, carotid body tumors, and simulating lesions. role of MR imaging.

    In summary, MR imaging characteristics of a case of paraganglioma of the facial nerve are reported. The relationship of paragangliomas and the chromaffin system have been discussed. There are many reports of cases of synchronous paragangliomas and pheochromocytomas. These reports, along with simultaneous involvement in familial men syndromes, and the common embrylogic origin (neural crest) and similar histopathologic relationships between paragangliomas and pheochromocytoma, all support the fact that they are part of the chromaffin system. ( info)

7/301. multiple endocrine neoplasia (men)--an overview and case report--patient with sporadic bilateral pheochromocytoma, hyperparathyroidism and marfanoid habitus.

    The multiple endocrine neoplasia syndromes are divided into two categories: men type I and men type II. The men type II syndrome is further divided into men IIa and men IIb. The syndromes are characterized by benign and malignant changes in two or more endocrine organs, as well as incidental changes in nervous, muscular and connective tissue. Two main forms can be distinguished: the men-I syndrome with hyperplasia of the parathyroid gland, accompanied by islet cell tumor and pituitary adenoma; the men-II syndrome with medullary thyroid carcinoma in combination with bilateral pheochromocytoma and hyperplasia of the parathyroid gland (men IIa), while type IIb is characterized by the additional appearance of neurocutaneous manifestations without primary hyperparathyroidism. Characteristics shared by these syndromes include the involved cell type, most of the tumors are composed of one or more specific polypeptide- and biogenic amine-producing cell types (APUD--amine precursor uptake and decarboxylation). The second characteristic is the increased incidence in certain families. The hereditary component is autosomal dominant with variable expression but high penetrance. Mechanisms of tumorigenesis differ in these syndromes. While men I is caused by an inherited mutation of a tumor suppressor gene, menin, located on the long arm of chromosome 11, men II is caused by activation of the RET proto-oncogene. We have reported the case of a young man exhibiting bilateral pheochromocytoma. In addition, the patient showed mild primary hyperparathyroidism and marfanoid habitus, all these stigmata usually being part of the men-II syndrome. Although this described patient showed a phenotypic mixture of the men-IIa and men-IIb syndrome, the genetic analysis for men II and von-Hippel-Lindau gene did not reveal any pathologic mutations, the endocrine disorders described here are not related to multiple endocrine neoplasia syndromes. ( info)

8/301. Intrasellar pituicytoma in a patient with other endocrine neoplasms.

    Considered a neoplasm of pituicytes, pituicytoma is a rare and distinct type of glioma that arises in the suprasellar space and within the sella turcica. Only 12 previously reported cases of pituicytoma are documented in the literature. We report an intrasellar pituicytoma in a 66-year-old man presenting with symptoms and radiologic appearance indistinguishable from a nonfunctional pituitary adenoma. The patient also had a medical history significant for parathyroid adenomas and follicular carcinoma of the thyroid. The intrasellar tumor had morphologic features of a pituicytoma, with interlacing fascicles and a storiform pattern much like a benign fibrous histiocytoma. Immunoreactivity for S100 was strong, but the tumor lacked intercellular collagen type iv. The differential diagnosis of a low-grade spindle cell lesion of the sellar space is discussed, and the literature is reviewed. A summary of the clinical and pathologic features of this case, as well as the 12 previously reported cases, is presented. ( info)

9/301. An aggressive neuroendocrine tumour in a man with AIDS.

    Pancreatic neuroendocrine tumours (pets), though rare, are usually slow growing tumours with a relatively good prognosis. We describe a case of an aggressive malignant neuroendocrine tumour of the pancreas occurring in an AIDS patient, which has not been reported previously. ( info)

10/301. A rare association between acromegaly and pheochromocytoma.

    The occurrence of multiple endocrine tumors is rare; however, they may be found with hereditary diseases such as multiple endocrine neoplasia (men). The endocrine tumors involved with these diseases are well documented. We present a case of a patient with a pheochromocytoma and a growth hormone (GH) secreting pituitary adenoma. This association is not described with any of the known men syndromes. The association may be a cross-over men syndrome or a secondarily induced GH-secreting pituitary adenoma from a pheochromocytoma producing growth hormone releasing hormone (GHRH) instead of catecholamines. ( info)
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