Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Proptosis and ptosis, caused by a large orbital mass that was excised and determined to be malignant melanoma, developed in a 4-year-old girl with congenital neurocutaneous melanosis (multiple large or giant cutaneous nevi associated with abnormal leptomeningeal pigmentation). Shortly thereafter, the patient had evidence suggestive of systemic metastases and died. The orbital tumor was likely metastatic from a primary meningeal melanoma. Other possible sources of metastatic tumor are discussed. It is unlikely that this was a primary orbital melanoma because the patient had no clinical or pathologic manifestations of pre-existing oculocutaneous melanosis, orbital melanosis, or orbital blue nevus.
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PMID:Congenital neurocutaneous melanosis with metastatic orbital malignant melanoma. 380 23

Retinoblastoma (Rb) occurs in hereditary, non-hereditary, and chromosomal deletion forms and the locus for the Rb gene (Rb-1) is closely linked to the locus for esterase D (ESD) assigned to the chromosome 13q14.11. We describe a patient who was predicted to have Rb from the genetic analysis of the chromosome and ESD phenotype. Furthermore, the gene for lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1: McKusick catalogue No. 15343, 1983) was assigned to chromosome 13 by deletion mapping. A 3-month-old female had many characteristics of chromosome 13q-syndrome, including dolichocephaly, epicanthus, ptosis, depressed nasal bridge, micrognathia, short webbed neck, and short fifth fingers with clinodactyly and single crease. The karyotype of the patient was 46,XX,del(13) (q14.1-q32), though both the parents had normal karyotypes. As expected, the phenotype of ESD derived from one of the parents, the father in this case, was not detected in peripheral blood lymphocytes by two-dimensional gel electrophoresis (two-DE), indicating that ESD from the father was deleted in the abnormal chromosome 13. The possibility of paternity was calculated to be 0.996 based on the data using 22 genetic markers. Bilateral retinoblastomas could be diagnosed by ophthalmologic examinations before the manifestation of any clinical signs of the tumor and immediately intensive care was taken. In addition, the phenotype of LCP1 derived from the father was not expressed in the lymphocyte proteins from the patient. These data indicate that the gene for LCP1 (LCP1) is located in the region q14.1-q32 of chromosome 13 and may be a useful genetic marker for preclinical diagnosis of Rb.
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PMID:A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13. 386 29

The relative effectiveness of plain computed tomography (CT), metrizamide CT, conventional myelography, and magnetic resonance (MR) imaging was compared for the examination of cystic spinal cord lesions. Intramedullary cavities in 18 patients were demonstrated by MR imaging: cavities were uncomplicated in 13 patients, associated with spinal tumors in two, and studied after occipital craniectomy for treatment of Chiari malformation and syringomyelia in two. Cavities were shown by MR imaging in all enlarged spinal cords, but a cavity was shown in only one of four small cords. The rostral limits of the cavities were demonstrated better than were the caudal extensions. Ventricular communication was not demonstrated. Chiari malformation was shown only in cavities that did not involve the medulla. Syringes associated with tumor were indistinguishable from uncomplicated cavities, but the tumor had abnormal signal on long spin-echo sequences in two cases. Cystic cord tumor (one case) had an inhomogeneous appearance. Caudal displacement of the cerebellar hemisphere through the surgical defect associated with compression of the fourth ventricle was shown in two cases after posterior fossa craniectomy. Thirteen patients were studied with metrizamide CT also. MR imaging proved to be as accurate as metrizamide CT in the diagnosis of intramedullary cavities that result in spinal cord enlargement, but it was less sensitive in detecting cavities within normal-sized or diminished spinal cords. It had the advantage that tumor tissue could be distinguished from associated syrinx cavities by differences in signal characteristics; and cerebellar ectopia was evaluated easily on sagittal MR views.
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PMID:MR imaging of syringomyelia and hydromyelia. 387 95

The gross diagnostic factors of intracardiac tumor in four patients imaged by two-dimensional echocardiography (2D echo) and magnetic resonance imaging (MRI) were compared. Three cases had left and one had a right atrial tumor, all histologically identified as myxoma. Gated cardiac MRI depicted the size, shape, and surface characteristics of the tumors more clearly than 2D echo, because MRI provides better spatial and contrast resolution. Depiction of tumor attachment was poor to good with both techniques. Both techniques were highly accurate in localizing the tumor and displaying whether it was fixed or mobile. The global field of view provided by MRI allows better definition of tumor prolapse, secondary valvular obstruction, and cardiac chamber size. This study shows that despite its early stage of development, gated cardiac MRI provides superior image quality and is complementary to 2D echo for characterization and diagnosis of intracardiac tumor.
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PMID:Comparison of gated cardiac MRI and 2D echocardiography of intracardiac neoplasms. 387 48

Neonatal genital prolapse is a rare condition. It usually occurs during the first few days of life and presents as a tumor mass protruding from the vulva. Most cases occur in association with meningomyelocele or other anomalies of the central nervous system. Two cases are presented to illustrate the usefulness of conservative management of this unusual problem. A historical review of the literature is presented to acquaint the reader with the variety of treatments that have been used in the past.
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PMID:Management of neonatal genital prolapse: case reports and historic review. 389 85

A 62-year-old woman was seen for evaluation of an orbital tumor. Recognition of a relatively rare syndrome of pain, ptosis, and a progressively immobilized globe with enophthalmos suggested the diagnosis of metastatic carcinoma to the left orbit. In this case, this was confirmed by open breast and orbital biopsies, revealing infiltrating lobular breast carcinoma. This is the first reported case where estrogen and progesterone receptors were identified in a metastatic orbital tumor using fluorescent histochemical techniques. This technique was of value in confirming the diagnosis and providing direction for subsequent endocrinologic palliative therapy.
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PMID:Histochemical analysis of breast carcinoma metastatic to the orbit. 395 31

Despite recent renewed interest in the detection of tricuspid valve regurgitation by echocardiographic and Doppler techniques, little morphologic information is available on dysfunctioning tricuspid valves. This report describes 45 necropsy patients with clinical and morphologic evidence of pure (no element of stenosis) tricuspid regurgitation and provides morphometric observations (anular circumference, leaflet area) of the tricuspid valve useful in determining the etiology of pure tricuspid regurgitation. Of 45 patients, 24 (53%) had pure tricuspid regurgitation resulting from an anatomically abnormal valve (prolapse in 7, papillary muscle dysfunction in 6, rheumatic disease in 5, Ebstein's anomaly in 3, infective endocarditis in 2, carcinoid tumor in 1), and 21 (47%) had an anatomically normal valve with systolic pulmonary artery hypertension (cor pulmonale in 12, mitral stenosis in 9). Anular circumference was dilated (greater than 12 cm) in patients with various causes of pulmonary hypertension, floppy valve and Ebstein's tricuspid anomaly. Leaflet area was increased in floppy valve and Ebstein's anomaly. Of the 45 patients, 24 had pulmonary systolic artery pressure measurements available for correlation with tricuspid valve morphology. Pulmonary artery pressures accurately predicted morphologically normal from abnormal valves in 16 patients (89%). Morphologic overlap occurred in six patients with pulmonary pressures of 41 to 54 mm Hg. Of these six, the additional knowledge of normal or dilated anular circumference correctly separated valves with normal and abnormal leaflets.
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PMID:Etiology of pure tricuspid regurgitation based on anular circumference and leaflet area: analysis of 45 necropsy patients with clinical and morphologic evidence of pure tricuspid regurgitation. 395 62

A 64-year-old female visited Kawatetsu Chiba Hospital complaining of left retro-orbital pain. A month before, she had experienced ptosis and diplopia, that had been releaved two days later by corticosteroid. On admission, she had no neurological deficits except for minimal anisocoria, with the left pupil larger than the right. There was no cutaneous manifestation of von Recklinghausen's disease. Skull X-ray films showed depression of the floor of the sella turcica on the left side. CT scans demonstrated a parasellar enhancing mass with intrasellar extension. Left carotid angiogram showed intracavernous portion of the internal carotid artery displaced laterally, inferiorly, and anteriorly. With a tentative diagnosis of laterally extending pituitary adenoma, a transsphenoidal operation was carried out, which disclosed a solid tumor locating beside the medially-displaced pituitary gland. The histological diagnosis was typical neurinoma. Parasellar neurinoma is not so common. It is usually difficult to determine the origin of the parasellar neurinoma. Trigeminal neurinoma arising from the Gasserian ganglion is generally recognized to be the most frequent. However, the absence of the trigeminal nerve involvement, unusual CT findings, and angiographical changes in the present case were all different from those of the typical trigeminal neurinoma. We believe that the tumor of this case originated from the oculomotor nerve. Fifteen cases of neurinoma of the oculomotor, trochlear, and abducens nerve have been reported to date. Their clinical features were reviewed.
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PMID:[Neurinoma with intrasellar extension: a case report]. 398 98

A 70 year old woman underwent an anterior rightsided temporal lobectomy for a mixed glioblastoma-fibrosarcoma. Six months later, she presented with rightsided zygomatic and maxillary swellings, associated with rightsided ptosis, chemosis, and nerve palsies of the III, IV, VI, and VII cranial nerves. A computerized scan (CT) of the head revealed tumor erosion of the skull base of the right middle fossa with extension into the maxillary sinus. This was confirmed at surgery. Pathologic examination revealed a predominantly small cell anaplastic glioblastoma associated with sarcoma elements, similar to the original intracranial tumor. This case documents a rare and atypical behavior of malignant glial tumors.
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PMID:Gliosarcoma with cranial penetration and extension to the maxillary sinus. 406 29

Esthesioneuroblastoma, a tumor that arises from the olfactory sensory epithelium, often manifests with ocular and orbital signs and symptoms. A review of 38 cases of esthesioneuroblastoma at the Mayo Clinic revealed that ophthalmic signs or symptoms occurred in 28. Twenty patients had ophthalmic signs or symptoms at the time of presentation, and five of these had ocular symptoms as the primary complaint. Five patients presented to an ophthalmologist, but a nasal or paranasal sinus tumor was not suspected. Periorbital pain and excessive tearing were the most commonly reported symptoms. The most common ophthalmic sign was eyelid edema followed by proptosis, globe injection, and ptosis. Recognition of the signs and symptoms of neoplasms of the nose and paranasal sinuses and consideration of esthesioneuroblastoma in the differential diagnosis by clinicians and pathologists allow for prompt management of this tumor.
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PMID:Ophthalmic manifestations of esthesioneuroblastoma. 408 29


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