Biomedical subjects
Publications and source records attributed to G De Toma.
Gastrointestinal stromal tumors (GISTs) of the small bowel are relatively rare and, therefore, both difficult to diagnose and treat. The authors present two cases of such tumors and review the various options for diagnosis and treatment.
Pheochromocytomas are catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal paraganglionic system that show 2 distinctive features, rarity and clinical variability. Pheochromocytoma occasionally is associated with pathological lesions of the adrenal cortex. We present 2 cases of patients referred to our hospital with a finding of clinical suspected pheochromocytoma. Both of them were hypertensive; the first patient with typical symptoms of pheochromocytoma and the second patient with chest pain and hypertension resistant to pharmacological treatment. The diagnosis of pheochromocytoma was confirmed in both cases with laboratory analysis and the lesion was achieved by employing 3 imaging techniques: computed tomography (CT), magnetic resonance imaging (MRI) and scintigraphy with (123)I-metaiodobenzilguanidine (MIBG). The patients underwent adrenalectomy and in the same adrenal gland we found a pheochromocytoma associated with a nonfunctioning cortical adenoma. As far as we know few cases with this association are available in the literature.
Aim of the study was to evaluate the role of echo color/power Doppler and magnetic resonance imaging in the diagnosis of space occupying parotid lesions, in the attempt to establish criteria for differential diagnosis between benign and malignant types. The study population comprised 49 patients (23 male, 26 female), age range 30-85 years, with a space occupying lesion of the parotid gland. Each lesion was carefully studied with ultrasound integrated with colour/power doppler and magnetic resonance imaging; patients were then submitted to echo-guided needle-biopsy and surgical excision. A preliminary evaluation by means of ultrasound revealed the site, size of lesion, echostructure and borders. Echo colour/power Doppler and magnetic resonance imaging can play a very important role both in diagnosis and pre-operative surgical planning of parotid lesions, although cost and availability, the former to be recommended vs. magnetic resonance imaging, which is poorly accessible, expensive, and not always accepted by the patients.
UNLABELLED: Gastrointestinal stromal tumors are rare neoplasms arising from mesenchymal cells of the gastrointestinal tract, that strongly express a class III receptor tyrosine kinase, called KIT, due to some mutations in the KIT proto-oncogene. Two thirds of GISTs are found in the stomach, 20% to 50% in the small bowel (one third in the duodenum), and 5% to 15% in colon and rectum; GISTs, however, may rarely be found also in the oesophagus, omentum, mesentery or the retroperitoneum. Their treatment is strictly surgical, and only R0 resection can achieve good RESULTS: Treatment with Imatinib seems to be promising in case of unresectable or metastatic GIST, even if some trials are studying its effects after curative resection. GIST of the mesocolon are rare, and as in the other locations, require extensive surgery. The Autohrs report a case of giant malignant GIST arising from transverse mesocolon, treated by en-bloc resection of the tumor with a segment of transverse colon and great omentum.
Glutathione S-transferases (GSTs) comprise a large family of key defence enzymes against xenobiotic toxicity. Here we describe the comprehensive characterisation of this important multigene family in the model monocot species rice [ Oryza sativa(L.)]. Furthermore, we investigate the molecular evolution of the family based on the analysis of (1) the patterns of within-genome duplication, and (2) the phylogenetic relationships and evolutionary divergence among rice, Arabidopsis, maize and soybean GSTs. By in-silico screening of the EST and genome divisions of the Genbank/EMBL/DDBJ database we have isolated 59 putative genes and two pseudogenes, making this the largest plant GST family characterised to date. Of these, 38 (62%) are represented by genomic and EST sequences and 23 (38%) are known only from their genomic sequences. A preliminary survey of EST collections shows a large degree of variability in gene expression between different tissues and environmental conditions, with a small number of genes (13) accounting for 80% of all ESTs. Rice GSTs are organised in four main phylogenetic classes, with 91% of all rice genes belonging to the two plant-specific classes Tau (40 genes) and Phi (16 genes). Pairwise identity scores range between 17 and 98% for proteins of the same class, and 7 and 21% for interclass comparisons. Rapid evolution by gene duplication is suggested by the discovery of two large clusters of 7 and 23 closely related genes on chromosomes 1 and 10, respectively. A comparison of the complete GST families in two monocot and two dicot species suggests a monophyletic origin for all Theta and Zeta GSTs, and no more than three common ancestors for all Phi and Tau genes.
Adrenomedullin (ADM) is a new potent vasorelaxant peptide identified originally in extracts of pheochromocytoma, and is widely distributed within the tissue. Although histopathological studies have demonstrated the presence of ADM-immunoreactivity (ir-ADM) in some human neuroendocrine tumors (such as insulinoma, pituitary adenoma, and gastrointestinal neuroendocrine tumors), data on the presence of ADM in normal and pathological parathyroid gland are not available. Plasma AM concentrations were recently reported to be elevated in patients with PHP (primary hyperparathyroidism). The aim of our study was to determine tissue distribution of ir-AM in 34 patients with PHP (27 female and 7 male, mean age 50 +/- 6 years) undergoing surgery. Six normal parathyroid samples incidentally found during thyroidectomy for neoplastic diseases and ten sections of human rectus abdominis muscle tissue were used as controls (C). Adenomatous parathyroids were found in 22 PHP and hyperplastic parathyroids in twelve PHP patients. Four hyperplastic parathyroids were found in three PHP patients and three parathyroids in 10 PHP patients. Eight parathyroids revealed a prevalent diffuse growth pattern and four showed a prevalent nodular growth pattern. Immunohistochemical ADM expression was seen in seven of twelve (58.3 %) hyperplastic parathyroids and in fourteen of twenty-two (66.6 %) adenomatous glands. Parathyroid chief cells showed strong cytoplasmatic staining, whereas oncocytic cells showed a faintly aspecific cytoplasmatic staining. Normal parathyroids were negative for ir-ADM. In conclusion, we found the presence of ADM in parathyroid chief cells of PHP patients using immunohistochemistry in our study.
Haemangiopericytoma (HPT) is a rare neoplasm that can occur in any part of the human body. In this report, we describe the case of a patient with sudden severe upper abdominal pain caused by primary HPT in the greater omentum.
BACKGROUND: The hypotensive peptide adrenomedullin was first isolated in extracts of human pheochromocytoma. There is, however, no information available on the behaviour of circulating adrenomedullin or on the correlation with catecholamines in patients with pheochromocytoma. OBJECTIVES: 1) to investigate whether plasma adrenomedullin levels were changed in 10 patients with pheochromocytoma when compared to 21 healthy subjects and 16 patients with essential hypertension; 2) to determine whether or not adrenomedullin has a counter-regulatory role in catecholamine excess in pheochromocytoma or is responsible for hemodynamic modifications before and after tumour resection; 3) to determine tissue distribution of iradrenomedullin in the pheochromocytoma. METHODS: Plasma adrenomedullin and catecholamine levels were measured in all patients with pheochromocytoma before and four weeks after tumour removal. In the four patients undergoing resection of tumours, plasma levels of adrenomedullin were measured at different time-points during surgery. RESULTS: The mean plasma adrenomedullin concentrations ( SD) in patients with pheochromocytoma (37.9 +/- 6pg/ml) were significantly higher (p<0.0001) than those in normal subjects (13.7 +/- 6.1 pg/mI) and patients with essential hypertension (22.5 +/- 9.lpg/ml). Adrenomedullin levels correlated with plasma noradrenaline (r = 0.516, p = 0.0124). In all patients with pheochromocytoma, plasma adrenomedullin concentrations decreased after removal of tumours (from 37.9 +/- 6 to 10.9 +/- 4.6 pg/ml; p < 0.0001). In the four patients studied during surgery, baseline plasma adrenomedullin and noradrenaline levels were markedly elevated, and increased significantly with tumour manipulation, decreasing 24 hours after operation. Adrenal medulla cells surrounding the pheochromocytoma site stained for ir-adrenomedullin, whereas only isolated cells of pheochromocytoma stained for the peptide. CONCLUSIONS: This study demonstrates that circulating adrenomedullin is increased in pheochromocytoma, and is also correlated with plasma noradrenaline levels. Adrenomedullin may represent an additional biochemical parameter for clinical monitoring of patients with pheochromocytoma.
BACKGROUND: Ehlers Danlos syndrome (type IV) and kidney and liver cyst disease can present a common factor: anomalous biosynthesis of structural collagen and elastic tissue. We present an exceptional case. CASE REPORT: A 62-year-old man complained of pain in the upper left quadrant of the abdomen. Ultrasonography, magnetic resonance imaging and arteriography evidenced an aneurysm of the splenic artery, an aneurysm of the hypogastric artery, multiple cysts in the kidney and liver, and mitral valvulopathy. Treatment was splenectomy with resection of the splenic aneurysm and resection of the iliac aneurysm and iliac-iliac bypass. DISCUSSION: The association of kidney and liver cyst disease with venous gastrointestinal and cardiovascular complications is well known. The simultaneous presence of cysts and peripheral and visceral aneurysms with anomalies of the arterial wall resembling Ehlers Danlos syndrome (type IV) would suggest that these two diseases might result from a common connective tissue anomaly. The underlying mechanism(s) remain unknown.
Peritoneal mesothelioma is a rare disease, especially when it arises in a cystic form with tardive and often nonspecific symptoms. While diffuse neoplasms have an unfavorable prognosis, cystic forms are usually benign. An accurate diagnosis can only be made only with electron microscopy and immunohistochemical studies. A 92-year-old woman with an ultrastructurally ascertained cystic peritoneal mesothelioma was admitted to the hospital's emergency ward, and was considered to be unusual because of the size of the mass and the patient's age. A review of the literature is made, and the clinical and diagnostic aspects of this disease are also discussed.
It has been demonstrated that adrenomedullin, a newly discovered peptide with structural similarity to calcitonin gene-related peptide (CGRP), is expressed in pituitary gland and affects basal and corticotropin (ACTH)-releasing factor (CRF)-stimulated ACTH release in animals, thus suggesting its potential role in regulating the hypothalamus-pituitary-adrenal axis. To evaluate whether ACTH and cortisol levels affect adrenomedullin production in humans, we studied 14 patients with Cushing's syndrome due to pituitary adenoma and 8 patients with Cushing's syndrome due to adrenal tumor, with measurement of circulating adrenomedullin by a specific radioimmunoassay (RIA). Adrenomedullin concentrations were significantly higher in patients with pituitary adenoma (37.6 +/- 17.8 pg/mL) versus controls (13.7 +/- 6.1 pg/mL) and patients with adrenal adenoma (17.8 +/- 2.2 pg/mL). After pituitary surgical treatment, plasma adrenomedullin decreased significantly. In one patient with Cushing's syndrome due to pituitary adenoma who underwent simultaneous sampling of the inferior petrosal venous sinuses, the adrenomedullin concentration was significantly higher in plasma collected from the side with the adenoma and increased after CRF administration (delta increase, 42.6%), according to ACTH levels. Our findings indicate that circulating adrenomedullin is increased in Cushing's disease, and the pituitary gland may represent the site of the elevated production of adrenomedullin in this condition.
Carotid body tumors (CBTs) are relatively rare paragangliomas that develop from neural crest cells at the bifurcation of the common carotid artery. They are generally slow growing and benign. Excision is currently considered the treatment of choice, although vascular and especially neural injuries are still relatively frequent in patients with large or bilaterally resected tumors. The baroreflex failure syndrome (BFS) has recently been identified as a severe, rarely recognized, and certainly underestimated complication after the bilateral excision of CBTs. The present report describes a case of a bilateral CBT followed by BFS and reviews the experiences reported in the literature. In light of the low incidence of malignancy of these tumors, their biologic behavior, their very high rate of cranial nerve palsy, and the occurrence of BFS in bilaterally resected paragangliomas, the current practice of bilaterally removing these tumors is questioned.
Multiple carcinoid tumors of the small bowel with more than 3 lesions are very unusual. The authors report a case with 4 lesions, 2 of those localized in the jejunum with more advanced infiltration of the wall and extension to regional mesenteric lymph nodes, revealed by ultrasonography. The relative low incidence and particularly the vague, nonspecific clinical presentation, the unusual site in the jejunum, and failure of the radiological examine of one year before lead to not suspect this condition prior to US examination. However, the feature of asymmetric, concentric thickening of the bowel wall requiring a more accurate exam by CT with oral contrast was able to confirm the suspect of the intestinal tumor. The patient, 80 year old, underwent radical surgery with a wide lymph nodes dissection as well as double resection of the jejunum and distal ileum. The post-surgical outcome was uneventful. A 12-month follow-up is free of the disease.
Malignant clear cell hidradenoma is an uncommon tumor of eccrine sweat gland origin. In contrast to the benign form, malignant clear cell hidradenoma tends to invade the surrounding tissue and has a high incidence of distant metastases. For these reasons a wide surgical excision associated to a locoregional lymph node dissection should be performed alter the initial diagnosis. The case of a 17 year old female with this rare lesion is reported; the literature is reviewed and surgical treatment discussed.
BACKGROUND: The growing use of sensitive non-invasive methods to image the abdomen such as ultrasonography, computed tomography (CT) and magnetic resonance imaging (MRI), have resulted in increasing recognition of adrenal incidentalomas. METHODS: In this study, we report the clinical, endocrine and radiologic evaluation of 75 patients (50 women and 25 men, mean age 56 +/- 14 years) with adrenal incidentaloma (size 1 to 18 cm, mean 3 +/- 2.5 cm). None of the patients showed any symptoms or clinical signs that might indicate the existence of adrenal dysfunction. The patients underwent basal and dynamic evaluation of the hypothalamic-pituitary-adrenal axis, renin-angiotensin-aldosterone system, and adrenomedullary function. Moreover, CT and MRI scan and Iodo-cholesterol (NP-59) scintigraphy were performed. RESULTS: The endocrine evaluation indicated 11 cases of pre-clinical Cushing's syndrome, 2 cases of pheochromocytoma and 62 not-functionally adrenal masses. On the basis of endocrine and morphologic data, 29 patients underwent surgical treatment: 20 adrenocortical adenoma, 2 pheochromocytomas, 2 not-cortisol-secreting adrenal carcinomas, 1 adrenal lymphoma, 1 adrenal metastasis, 1 myelolipoma, 1 hemorrhage and 1 pseudocystis. CONCLUSIONS: In conclusion, patient with an incidentally discovered mass has to be investigated to detect malignancy and subtle hormonal overproduction, to select the cases for surgical treatment.
The authors report a case of isolated mesenteric fibromatosis un associated with familial adenomatous polyposis or Gardner's syndrome or prior abdominal surgery. These neoplasms are usually asymptomatic until when the compression of the small or large bowel or the ureter causes symptoms; although they are benign lesions without metastases, local recurrences are very frequent. Surgical removal is the primary treatment; until now no satisfactory results have been obtained with other therapeutic modalities.
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A 41-year-old white homosexual man presented with epigastric pain and jaundice. Physical examination showed enlargement of bilateral axillar and left inguinal lymph node, while ERCP and a CT scan suggested interruption of bile flow in the intrapancreatic tract of the common bile duct. An endoprosthesis was positioned in the common bile duct during the ERCP. Blood tests (both ELISA and Western blot techniques) showed positivity for anti-HIV antibodies and a CD4 count of 780/mmc (normal: 900-1,200/mmc). A few days later, a dramatic increase of the size of a lymph node in this right axilla occurred, rapidly reaching 5 cm of diameter. A biopsy was performed at this level, and histological examination revealed a high grade B-cell Burkitt type lymphoma. Bone marrow biopsy was negative, as well as lumbar puncture. Aggressive chemotherapy with adriamycin, cyclophosphamide, bleomycine, eldesine and prednisone, together with intratechal administration of methotrexate, was attempted. However, after a marginal and transient regression, the NHL rapidly progressed and the patient eventually died seven months after the diagnosis of NHL. A post mortem examination confirmed the diagnosis of Burkitt lymphoma of the peripancreatic and axillar lymph nodes, with diffusion to the leptomeninges, subaracnoideal spaces and encephalus. No signs of lymphoma were detected in other nodal or extra nodal areas.