1/450. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. methods: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/450. HIV-associated parotid lymphoepithelial cysts.BACKGROUND: An outstanding feature of the diffuse infiltrative lymphocytosis syndrome, or DILS, a subset of hiv-1 disease, is asymptomatic bilateral parotid swelling. Recognition of the entity is important because people with this disease will seek routine dental care. CASE DESCRIPTION: The authors present a classic case of DILS. The patient exhibited bilateral parotid swellings caused by lymphoepithelial cysts, cervical lymphadenopathy, a CD8 circulating lymphocytosis and a CD8 lymphocytic infiltration into the labial salivary glands. A right superficial parotidectomy had been performed several years previously. However, no intervention was advised for the remaining left parotid because of its benign course. CLINICAL IMPLICATIONS: Since patients with DILS can develop lymphomas, periodic observation is mandatory. Any change in the growth pattern requires that a fine-needle aspiration biopsy be performed.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
3/450. A case of multiple sebaceous epithelioma: analysis of microsatellite instability.Sebaceous gland tumor is a rare disease that is a sign of muir-torre syndrome, an autosomal, dominantly inherited genodermatosis characterized by the presence of at least one sebaceous gland tumor and a minimum of one internal malignancy. Recent studies have indicated that defective dna mismatch repair occurs in muir-torre syndrome. Cutaneous lesions may occur before diagnosis of the internal cancer. We describe a 64-year-old male patient with multiple sebaceous epitheliomas with no evident internal malignancy. microsatellite instability, determined by examining dinucleotide CA repeats at the microsatellite loci, was observed in DNA from one sebaceous epithelioma but not from the other two sebaceous epitheliomas or from one basal cell epithelioma with sebaceous differentiation, suggesting that this condition is unlikely to be due to germ-line mutation of mismatch repair genes.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
4/450. Unilateral laparoscopic adrenalectomy followed by contralateral retroperitoneoscopic partial adrenalectomy in a patient with multiple endocrine neoplasia type 2a syndrome.We report the first patient who had bilateral pheochromocytoma associated with multiple endocrine neoplasia type 2a syndrome (MEN 2a) and underwent unilateral laparoscopic adrenalectomy followed by contralateral retroperitoneoscopic partial adrenalectomy 2 years later. The postoperative course was uneventful both times, and the patient was cured of hypertension without any need for steroid replacement. Endoscopic partial adrenalectomy is a minimally invasive procedure for pheochromocytoma with mild symptoms. We believe that this procedure has considerable potential for treating bilateral pheochromocytoma, which is frequently observed in patients with MEN 2a.- - - - - - - - - - ranking = 10.121629575715keywords = adrenal (Clic here for more details about this article) |
5/450. Secretory villous adenomas that cause depletion syndrome.Secretory villous adenomas of the colon have been known to cause a depleting syndrome characterized by dehydration, prerenal azotemia, hyponatremia, hypokalemia, metabolic acidosis, obtundation, and, in severe cases, death. We describe 1 case of classic depleting syndrome and review the literature on possible mechanisms. Both cyclic adenosine monophosphate and prostaglandin E2 have been implicated as possible secretagogue compounds in the pathogenesis of this syndrome unique to the secretory variant form of villous adenomas. indomethacin as a prostaglandin inhibitor has been used with apparent benefit in controlling the volume of rectal effluent in patients with secretory villous adenomas.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
6/450. Familial macroglossia-omphalocele syndrome.A kindred is reported in which 8 infants were affected with the macroglossia-omphalocele syndrome. Their characteristics varied from an almost complete clinical picture to nodular hyperplasia with cytomegaly of the adrenals as the only manifestation of the disease. Chromosome analysis was normal. This syndrome appears to be inherited as an autosomal recessive trait, with a high proportion of incomplete clinical forms. The index patient also has signs of the rubinstein-taybi syndrome. The simultaneous occurrence of these two syndromes is probably a fortuitous event.- - - - - - - - - - ranking = 0.92014814324681keywords = adrenal (Clic here for more details about this article) |
7/450. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
8/450. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.McCune-Albright syndrome consists of fibrous dysplasia of bone, cafe-au-lait skin pigmentation, and endocrine dysfunction (usually precocious puberty). Other endocrine abnormalities occur in a minority of patients, and of these, Cushing's syndrome is the least often recognized. We present 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing's syndrome in the infantile period (<6 months). In 2 children spontaneous resolution occurred, but the remaining 3 required bilateral adrenalectomy. In addition, all 4 girls have experienced precocious puberty, and 3 children demonstrated radiologic evidence of nephrocalcinosis. Understanding of the underlying defect causing McCune-Albright syndrome emphasizes the importance of searching for other endocrine dysfunction in these children.- - - - - - - - - - ranking = 4.6007407162341keywords = adrenal (Clic here for more details about this article) |
9/450. A patient with neurofibromatosis type 1 and watery diarrhoea syndrome due to a VIP-producing adrenal phaeochromocytoma.A patient with neurofibromatosis type 1 and watery diarrhoea syndrome due to a VIP-producing adrenal phaeochromocytoma (Case Report). J Intern Med 1999; 246: 231-234. A 43-year-old patient with neurofibromatosis type 1 suffered from watery diarrhoea syndrome induced by excessive production of vasoactive intestinal polypeptide (VIP) in an adrenal phaeochromocytoma. This case report emphasizes that patients with neurofibromatosis are prone to develop more than one disease induced by tumours originating from the neural crest. Since excessive VIP production in a phaeochromocytoma may mask the symptoms of catecholamine overproduction, and in view of the therapeutic consequences, neurofibromatosis patients with hyperVIP-aemia must be checked for the presence of a phaeochromocytoma.- - - - - - - - - - ranking = 5.5208888594809keywords = adrenal (Clic here for more details about this article) |
10/450. hypoparathyroidism secondary to Riedel's thyroiditis. A case report and a review of the literature.Riedel's thyroiditis is a rare condition in which the thyroid gland is replaced by fibrous tissue. fibrosis in various distant sites is a possible concomitant event. We report a case of Riedel's thyroiditis complicated by mediastinal fibrosis, a tumefactive fibro-inflammatory lesion of the neck and primary hypothyroidism. A review of the literature in which only 8 previous cases of hypoparathyroidism secondary to Riedel's thyroiditis have been recounted concludes the report.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
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