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P Emy

Publications and source records attributed to P Emy.

13 recordsLinked to original sources
PubMed2006

Clinical characterization of familial isolated pituitary adenomas.

CONTEXT: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). OBJECTIVE: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA). DESIGN AND SETTING: We conducted a retrospective study of clinical and genealogical characteristics of FIPA cases and performed a comparison with a sporadic population at 22 university hospitals in Belgium, Italy, France, and The Netherlands. RESULTS: Sixty-four FIPA families including 138 affected individuals were identified [55 prolactinomas, 47 somatotropinomas, 28 nonsecreting adenomas (NS), and eight ACTH-secreting tumors]. Cases were MEN1/PRKAR1A-mutation negative. First-degree relationships predominated (75.6%) among affected individuals. A single tumor phenotype occurred in 30 families (homogeneous), and heterogeneous phenotypes occurred in 34 families. FIPA cases were younger at diagnosis than sporadic cases (P = 0.015); tumors were diagnosed earlier in the first vs. the second generation of multigenerational families. Macroadenomas were more frequent in heterogeneous vs. homogeneous FIPA families (P = 0.036). Prolactinomas from heterogeneous families were larger and had more frequent suprasellar extension (P = 0.004) than sporadic cases. Somatotropinomas occurred as isolated familial somatotropinoma cases and within heterogeneous FIPA families; isolated familial somatotropinoma cases represented 18% of FIPA cases and were younger at diagnosis than patients with sporadic somatotropinomas. Familial NS cases were younger at diagnosis (P = 0.03) and had more frequently invasive tumors (P = 0.024) than sporadic cases. CONCLUSIONS: Homogeneous and heterogeneous expression of prolactinomas, somatotropinomas, NS, and Cushing's disease can occur within families in the absence of MEN1/CNC. FIPA and sporadic cases have differing clinical characteristics. FIPA may represent a novel endocrine neoplasia classification that requires further genetic characterization.

Adenoma↗
PubMed2000

[Duodenal somatostatinomas associated with von Recklinghausen's neurofibromatosis. Apropos of 2 cases].

Somatostatinomas are rare neuroendocrine tumors; they are essentially located in the pancreas and in the duodenum. The association with a neurofibromatosis type I is especially observed when the tumor is located in the ampulla of Vater. These tumors are not associated with a "somatostatin syndrome", but often present with gastrointestinal bleeding, abdominal pain and obstructive jaundice. The diagnosis is confirmed by immunohistochemical studies. The aim of this study is to report 2 cases of metastazing duodenal periampullary somatostatinomas associated with von Recklinghausen's disease and to discuss the prognosis of these tumors. Future genetic research are necessary as point out the familial feature of this association in one of our cases.

Duodenal Neoplasms↗
PubMed1998

Cytotoxic therapy with etoposide and cisplatin in advanced adrenocortical carcinoma.

Adrenocortical carcinoma (ACC) is a rare tumour with a poor prognosis. Cisplatin is the most widely tested cytotoxic agent in this disease. A total of 18 patients with advanced ACC were enrolled. Cytotoxic therapy consisted of etoposide (VP16) (100 mg m(-2) day(-1) on days 1-3) and cisplatin (100 mg m(-2) day(-1) on day 1) every 4 weeks. Mitotane treatment was maintained during chemotherapy in 14 patients. A complete response was observed in three cases and a partial response in three cases, giving an overall response rate of 33%. Tumour response was observed in three of the six patients with progressive disease during treatment with mitotane given at an effective dosage, as shown by serum levels >14 mg l(-1). Toxic effects were as expected and were non-life-threatening; no treatment interruption was required.

Adrenal Cortex Neoplasms↗
PubMed1998

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome predisposing to tumors of the parathyroid, endocrine pancreas, anterior pituitary, adrenal glands, and diffuse neuroendocrine tissues. The MEN1 gene has been assigned, by linkage analysis and loss of heterozygosity, to chromosome 11q13 and recently has been identified by positional cloning. In this study, a total of 84 families and/or isolated patients with either MEN1 or MEN1-related inherited endocrine tumors were screened for MEN1 germ-line mutations, by heteroduplex and sequence analysis of the MEN1 gene-coding region and untranslated exon 1. Germ-line MEN1 alterations were identified in 47/54 (87%) MEN1 families, in 9/11 (82%) isolated MEN1 patients, and in only 6/19 (31.5%) atypical MEN1-related inherited cases. We characterized 52 distinct mutations in a total of 62 MEN1 germ-line alterations. Thirty-five of the 52 mutations were frameshifts and nonsense mutations predicted to encode for a truncated MEN1 protein. We identified eight missense mutations and five in-frame deletions over the entire coding sequence. Six mutations were observed more than once in familial MEN1. Haplotype analysis in families with identical mutations indicate that these occurrences reflected mainly independent mutational events. No MEN1 germ-line mutations were found in 7/54 (13%) MEN1 families, in 2/11 (18%) isolated MEN1 cases, in 13/19 (68. 5%) MEN1-related cases, and in a kindred with familial isolated hyperparathyroidism. Two hundred twenty gene carriers (167 affected and 53 unaffected) were identified. No evidence of genotype-phenotype correlation was found. Age-related penetrance was estimated to be >95% at age >30 years. Our results add to the diversity of MEN1 germ-line mutations and provide new tools in genetic screening of MEN1 and clinically related cases.

Amino Acid Substitution↗
PubMed1998

[Microscopic thyroid papillary cancers presenting as cervical lymph node metastases].

Microscopic papillary thyroid cancer (< 1 cm in diameter) is reputed to have an excellent prognosis. In 10 to 20% of cases, it presents in the form of lymph ode metastases. Immediately metastatic forms can be associated with unfavourable prognostic factors, such as multifocal tumours, extension to adjacent tissues, capsular effraction and development of distant metastases. We report 4 cases of microscopic papillary thyroid cancer presenting in the form of lymph node metastases. No primary thyroid lesion was palpable in any of these patients, but the subsequent course was complicated by ling metastases in one case. All patients underwent total thyroidectomy with lymph node dissection followed by adjuvant therapy with radioactive iodine and thyroxin inhibitory treatment. Lung metastases were observed in one case. The authors propose a therapeutic approach based on analysis of severity factors, which determine the recurrence rate.

Adult↗
PubMed1992

[Influence of dose and modalities of administration of BIM 23014 on growth hormone secretion in patients with acromegaly].

Somatostatin analogs, with prolonged half-lives have been proposed for the treatment of acromegalics. The aim of the study was to evaluate the short term efficacy of different doses and modalities of administration of the new somatostatin analog, BIM 23014 (BIM), on GH secretion in acromegalics. Ten acromegalics, with evolutive disease, who previously had had transsphenoidal surgery (and pituitary radiotherapy in 8) were evaluated in a three step study. The first part included four patients who received in a random order either vehicle or 500, 1000 and 1500 micrograms BIM for a day as a continuous s.c. infusion using programmable pumps at one-week interval for 24 hours to measure plasma GH levels. The second part included six patients who received in a random order either vehicle or 1500 micrograms/24h BIM as 500 micrograms x 3 s.c. injections, 750 micrograms x 2 s.c. injections and a continuous s.c. infusion using programmable pumps at one-week interval. During each period of the study blood was sampled at 4 hour intervals for 24 hours in order to measure plasma GH and BIM levels by radioimmunoassays. The third part of the study included the same 6 patients as the second part, who received 30 mg IM of a long acting formulation of BIM. Blood was sampled before and thereafter on days 1, 3, 6, 9, 12, 15, 18 and 21 following the injection for measurement of plasma GH and BIM levels. In first group 500 micrograms BIM slightly decreased plasma GH levels.(ABSTRACT TRUNCATED AT 250 WORDS)

Acromegaly↗
PubMed1992

[Mediastinal parathyroid adenomas on a 5th ectopic gland. 2 case reports].

Mediastinal parathyroid adenoma located on the 5th ectopic gland is rare. We report here two new cases diagnosed by scintigraphy. In one case the adenoma was found to be located in the mediastinum prior to cervicotomy. The modern imaging methods capable of locating parathyroid adenomas are evaluated.

Adenoma↗
PubMed1986

[Polymyositis, dermatomyositis and pregnancy: high-risk pregnancy. A further case report and review of the literature].

The authors report a new case where polymyositis/dermatomyositis and pregnancy were associated. The polymyositis and dermatomyositis appeared in the last third of the pregnancy. A caesarean operation had to be performed for fetal distress after 37 weeks of amenorrhoea. An apparently dead small-for-dates baby was born. Progress, however, after resuscitation of the baby was good. At 20 months after delivery the polymyositis and dermatomyositis also were improved. Two and a half years later there was no recurrence. In the light of cases that have previously been reported in the literature, it has been established that on the one hand pregnancy may trigger off the condition and worsen the PM/DM and on the other hand the condition has a bad effect on the progress of the pregnancy. 50% of the babies are born dead or die in the week after delivery and 55% are born prematurely. We discuss the possibility that PM/DM is of viral origin. A confirmation of this is the presence of viral inclusion bodies on electron microscopy found in the muscle cells of the patients who have PM/DM. However, in the previous history of these patients an acute viral myositis in childhood is a troublesome factor. Pregnancy, because it involves alterations in the immune responses of the patients, may lead to a recrudescence of a "sleeping" virus and so be responsible for the appearance or aggravation of polymyositis and dermatomyositis.

Adult↗
PubMed1984

[Adrenomyeloneuropathy. Endocrine, clinical and biological study of 4 cases].

Adrenoleukomyeloneuropathy (ALMN) is a rare neurological and endocrine disorder. It usually affects children, and consists of cortical disease and adrenal insufficiency (adrenoleukodystrophy: ALD). An adult form has recently been identified in which medullary disease is associated with an endocrine disorder (adrenomyeloneuropathy AMN). The authors describe the clinical, biological and physiopathological features of four cases of AMN.

Adrenal Insufficiency↗
PubMedDate not supplied

[Paresthetic notalgia and multiple endocrine neoplasia type 2a (Sipple's syndrome): 3 cases].

INTRODUCTION: Notalgia paresthetica is an isolated sensory mononeuropathy. Patients have a pruritus in the mid-upper back. Its association with multiple endocrine neoplasia type IIA has been reported in a few cases. We report three cases of this association. CASE REPORTS: Case n(o) 1: A 45 year-old woman had multiple endocrine neoplasia type IIA with a medullary thyroid carcinoma and a primary hyperparathyroidism; she had a mid-upper back pigmented lesion. Histological examination showed dermal melanosis and deposits of amyloid in the dermis. Case n(o) 2: A woman had a multiple endocrine neoplasia type IIA which was diagnosed at the age of 60; she had a surgical treatment for a pheochromocytoma, a medullary thyroid carcinoma, and a primary hyperparathyroidism; she had dermatological examination for a pruriginous lesion of the mid-upper back. Case n(o) 3: The daughter of the patient n(o) 2 had had a surgical cure for a medullary thyroid carcinoma and a pheochromocytoma at the age of 31; she had a papulous and pruriginous lesion in the left scapular area. Her daughter and her sister had a multiple endocrine neoplasia type IIA without notalgia paresthetica. DISCUSSION: Notalgia paresthetica is a benign cutaneous disorder which can be associated with multiple endocrine neoplasia type IIA. It can be considered that notalgia paresthetica is an early clinical marker of multiple endocrine neoplasia type IIA. Patients with a familial history of notalgia paresthetica or with an onset of notalgia paresthetica in childhood should be screened for multiple endocrine neoplasia type IIA. Patients with multiple endocrine neoplasia must also been screened for notalgia paresthetica because its finding is an argument for a familial form of multiple endocrine neoplasia type IIA. Dermatologists should be aware of this association.

Adrenal Gland Neoplasms↗