1/12. Familial mixed tumors of the parotid gland.BACKGROUND: The most common neoplasm of the parotid gland is the pleomorphic adenoma. The familial occurrence of such tumors arising within the parotid gland is rare, with only 3 previous reports in the literature. Bilateral synchronous pleomorphic adenomas of the parotid gland are also uncommon. We report 2 siblings with pleomorphic adenomas of the parotid gland, 1 of whom had bilateral synchronous mixed tumors. patients and methods Chromosomal analysis of tumor cells from the sibling with bilateral adenomas revealed the translocation t(3;12)(p21;q15). Chromosome 12q breakpoints have previously been identified in a wide variety of solid tumors including pleomorphic adenomas of the parotid gland. CONCLUSIONS: We discuss bilateral mixed tumors, familial parotid tumors, and the potential for a genetic predisposition for the recurrence of such parotid tumors, as suggested by characteristic chromosomal translocations associated with mixed tumors.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/12. Mother with amyotrophic lateral sclerosis and daughter with Creutzfeldt-Jakob disease.OBJECTIVE: To describe a mother who had autopsy-proved amyotrophic lateral sclerosis and her daughter who had clinically diagnosed Creutzfeldt-Jakob disease. DESIGN: case reports with molecular genetic analyses. SETTING: A tertiary care center. patients: The mother had progressive upper and lower motor neuron symptoms and signs starting at the age of 54 years. Electrophysiological testing supported the diagnosis of amyotrophic lateral sclerosis. autopsy results confirmed the diagnosis. Her daughter had received injections of human growth hormone prepared from pooled human pituitary glands as a child. At the age of 31 years, she experienced the onset of gait ataxia and dysarthria. cerebrospinal fluid showed the 14-3-3 protein. Cognitive difficulties ensued. She progressed to a nearly akinetic and mute state. She had overt visible fasciculations and muscle atrophy in the legs. MAIN OUTCOME MEASURES AND RESULTS: Neither patient carried a mutation in the prion protein gene. Both were homozygous for methionine at the polymorphic codon 129. Neither patient carried a deletion of the 5 exons of the superoxide dismutase 1 gene. CONCLUSIONS: It is uncertain whether the 2 cases occurred in the same family by chance or whether the patients shared genetic risk factors for the 2 diseases. The possibility that homozygosity at codon 129 is a risk factor for amyotrophic lateral sclerosis is being tested in a case-control study.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
3/12. Congenital insensitivity to pain with anhidrosis.Congenital insensitivity to pain with anhidrosis is an autosomal-recessive disorder resulting from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for pain and temperature sensation. There is also a neuronal loss in the sympathetic ganglia. Lack of sweating, hyperthermia, and infections of bones are main features of the disorder; however, contradictory results have been published regarding eccrine sweat gland innervation. A 5-year-old male patient with typical clinical manifestations of congenital insensitivity to pain with anhidrosis is presented. immunohistochemistry with antibodies against S100 protein and neuron-specific enolase failed to reveal nerve fibers in the vicinity of the eccrine sweat glands. The roles of the nerve growth factor and tyrosine kinase receptor gene mutations in the pathogenesis of the disease are also discussed.- - - - - - - - - - ranking = 0.22222222222222keywords = gland (Clic here for more details about this article) |
4/12. Parotid and thyroid gland cancers in patients with ataxia-telangiectasia.This study describes the clinicopathologic features of parotid and thyroid gland cancers in patients with ataxia-telangiectasia (AT). The medical records of 412 AT patients were reviewed to identify those patients who developed parotid or thyroid gland cancers. Presenting features, diagnoses, types of therapy, risk factors, and other primary cancers were analyzed. Five patients with parotid or thyroid gland cancers were identified. Three had parotid (2 mucoepidermoid and 1 acinic cell) and 2 had thyroid gland (1 papillary and 1 follicular) cancers. Four patients presented with head and neck masses and 1 had an occult papillary thyroid carcinoma. Four patients had more than one primary cancer. The only mode of therapy was surgery. The 2 patients with mucoepidermoid carcinoma had complete parotidectomies. One is alive without any evidence of disease 12 months after diagnosis and 1 died of refractory lymphoma without any evidence of mucoepidermoid carcinoma at autopsy. The patient with acinic cell carcinoma had a parotid biopsy only. The 2 patients with thyroid cancer were diagnosed at autopsy. The results indicate that patients with AT are at risk for developing multiple primary cancers including those of the parotid and thyroid gland, and should be evaluated for such primaries.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
5/12. Different types of epithelial cadherin alterations play different roles in human carcinogenesis.Epithelial cadherin (E-cadherin) gene and protein alterations are implicated in the existence of two clearly distinct types of tumors in the stomach (isolated cell and glandular carcinomas), breast (lobular and ductal carcinomas), and thyroid (papillary and follicular carcinomas), as well as in the occurrence of poorly differentiated foci in colorectal and prostate adenocarcinomas. A thorough correlation between clinicopathologic features and molecular data, and the study of early lesions from familial cases provide clues for the understanding of the role played by E-cadherin in these settings.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
6/12. Primary diagnosis of multiple pheochromocytomas in the brother of a men-2 patient by simultaneous MIBG scintigraphy and low-dose computed tomography.Metaiodobenzylguanidine (MIBG) scintigraphy is a well-established functional imaging method for localizing pheochromocytomas. However, the morphologic information revealed on the scintigram is often too sparse and thus, accordingly, supplemental computed tomography (CT) or magnetic resonance imaging are often performed. Recently, gamma cameras with built-in low-dose CT were introduced. The authors describe a patient with a high likelihood of pheochromocytoma who had simultaneous MIBG scintigraphy and low-dose CT performed as the primary examinations. The scan revealed pheochromocytomas in both adrenal glands and one extra-adrenal pheochromocytoma located in the liver. The combined imaging ensured the final diagnosis without any need for further imaging. Based on the findings of this case, the authors believe that combined MIBG scintigraphy and low-dose CT is a promising future single imaging technique for pheochromocytomas.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
7/12. Familial bilateral acinic cell carcinoma of the parotid synchronous with pituitary adenoma: case report.BACKGROUND: Acinic cell carcinoma is a common neoplasm of the salivary glands that occurs predominately in the parotid. Only one case of a familial recurrence of such a neoplasm and 16 cases of bilateral tumors have been reported. methods: History files and histologic reports of a patient with bilateral multifocal acinic cell carcinoma of the parotid and a synchronous pituitary adenoma, and of the patient's sister and his father, also treated for parotid tumours, were retrieved. RESULTS: There was one recurrence of acinic cell carcinoma in the family. A pituitary tumor was a chromophobe gonotrophic adenoma. CONCLUSIONS: This is the 17th case of bilateral acinic cell carcinoma of the parotid gland and the second reported case with a familial recurrence. It is the first with a synchronous pituitary adenoma.- - - - - - - - - - ranking = 0.22222222222222keywords = gland (Clic here for more details about this article) |
8/12. Familial Bell's palsy in females: a phenotype with a predilection for eyelids and lacrimal gland.The authors report a family with familial Bell's palsy affecting seven individuals, six of whom are females. This is a distinct subtype of Bell's palsy with a predilection for juvenile females, previously reported only very rarely. In conjunction with a review of the literature, this case suggests that this phenotype carries with it a greater risk of serious complications affecting the eyelids and lacrimal gland. These carry significant functional and cosmetic implications owing to aberrant regeneration of the seventh, sixth and possibly third cranial nerves, chronicity and relapses. Clinical features include synkinesis of the eyelids with the orbicularis oris causing synkinetic ptosis, recurrent paralytic ectropion, paralysis of facial muscles of expression with dry eye, hyperlacrimation (crocodile tears), and transient strabismus. Clinically, the decision to offer surgery in place of conservative treatment should consider the natural history of chronicity and relapses often seen with this subtype of familial Bell's palsy. Botulinum toxin injections are especially versatile in managing the complications associated with this phenotype.- - - - - - - - - - ranking = 0.55555555555556keywords = gland (Clic here for more details about this article) |
9/12. The rare occurrence of absent adrenals in a term infant: a case report and review of the literature.A female infant (gestational age, 37 weeks) presented with respiratory distress and pulmonary hypertension. Incidental to her clinical course, she was discovered by abdominal ultrasound to have absent adrenal glands bilaterally. This is the first case report of congenitally absent adrenal glands noted at birth. The exons of the patient's SF-1 gene were sequenced, and despite identifying a single nucleotide polymorphism that preserves proline at position 125 of SF-1, none of the previously identified mutations were detected in our samples. The known role of SF-1 and its mutations in adrenal gland development are discussed.- - - - - - - - - - ranking = 0.33333333333333keywords = gland (Clic here for more details about this article) |
10/12. Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.Although cystic fibrosis (CF) is one of the most frequently seen autosomal-recessive disorders in Caucasians, it is extremely rare in the Korean population. Recently, a 15-yr-old Korean boy was admitted to our hospital complaining of coughing, sputum, and exertional dyspnea. Chest radiographs and computed tomographic chest and paranasal sinus scans revealed diffuse bronchiectasis and pansinusitis. Pulmonary function tests revealed severe obstructive impairment. The average sweat chloride concentrations on both of the patients' forearms were 63.0 mM/L (reference limit: < 40 mM/L). Upon mutation analysis, two different mutations (Q98R and Q220X) were identified in the cystic fibrosis transmembrane conductance regulator gene, both of which had been previously detected in CF patients, one from france and the other from england. As CF is quite rare in korea, the diagnosis of CF in this patient might be delayed. Therefore, we recommend that a diagnosis of CF should be suspected in patients exhibiting unexplained chronic respiratory symptoms.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
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