Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Experienced ophthalmologists who appropriately employ ancillary diagnostic testing, including fluorescein angiography, ocular ultrasonography, MRI, and fine needle aspiration biopsy, are remarkably accurate in the diagnosis of intraocular neoplasms. Recognizing the classic clinical features of the more commonly encountered lesions, such as choroidal melanoma, choroidal nevus, metastatic carcinoma to choroid, lymphoid tumors, and circumscribed choroidal hemangioma, and understanding the applicability and limitations of the various diagnostic tests are the keys to accurate detection.
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PMID:Differential diagnosis of choroidal neoplasms. 182 11

To improve the tissue characterizing information obtained by MRI we examined 35 patients with 43 different intraocular lesions by applying Gadolinium-DTPA for the first time. Histology was available in seven cases. Twenty patients were diagnosed as having a malignant uveal melanoma, 2 had a melanoma of the ciliary body and the iris, 3 patients were found to have a naevus of the uvea and 3 patients suffered metastatic uveal infiltrates, 4 patients had a senile maculopathy and 10 patients had either a vitreal or a subretinal haemorrhage, 1 patient had an angioma and another a lymphoma of his vitreous. Ruthenium plaques were applied to 13 out of 20 melanoma patients. These patients were followed-up by MRI examinations at regular intervals after therapy. The pretherapeutic signals of melanotic melanomas were high before applying Gadolinium-DTPA and demonstrated a further increase after contrast enhancement. Following ruthenium therapy the drop of the precontrast signal was more pronounced than the postcontrast signal. In complicated clinical situations MRI offers additional information to enable the differentiation between intraocular tumors and haemorrhages.
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PMID:[Differential intraocular tumor diagnosis in MRI using gadolinium DTPA: value in comparison with other ophthalmologic examination procedures]. 204 26

A 41-year-old female patient with mental retardation and generalized epileptic seizure had a nonmosaic idic (X) (pter-q21.32::q21.32-pter) chromosome in peripheral lymphocytes and bone marrow cells. Primary amenorrhea, myelodysplastic syndrome, pigmented nevi and characteristic facial appearance were also observed. A few cases with the nonmosaic idic (X) (q::q) with various breakpoints reported previously commonly showed ovarian failure with dysfunction of relevant hormone. CNS abnormalities of the present case were demonstrated by CT, MRI and SPECT using 123I-IMP. CNS abnormalities were considered to be possibly due to karyotype with a nonmosaic idic (X) (q21.32).
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PMID:Neuropsychiatric disturbances in a patient with a nonmosaic isodicentric (X) (q21.32) chromosome. 212 33

The value of gadolinium-enhanced MRI in 30 patients with intraocular lesions has been evaluated. Seventeen patients had a uveal melanoma, two a ciliary body melanoma, three had uveal metastases, one lymphoma, four had senile macula degenerations, and three uveal nevi. Twelve of 17 patients with melanoma were followed up by MRI after ruthenium plaque therapy on 2-4 occasions. Melanomas showed high precontrast signal intensities and only a slight enhancement after intravenous Gd-DTPA was given. After ruthenium plaque therapy precontrast signal intensities (SI) decreased while a moderate signal increase on postcontrast scans was noted. Scars or tumor residues were better delineated on enhanced images. All other tumors than melanotic melanomas showed low SI on precontrast scans and a high signal increase after Gd-DTPA administration. Small amelanotic tumors were better delineated on postcontrast scans. In addition Gd-DTPA-enhanced MRI allowed differentiation between tumor and hemorrhage. No signal increase after Gd-DTPA application was seen in subretinal or vitreous hemorrhages of varying ages.
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PMID:Gadolinium-DTPA-enhanced MRI of intraocular tumors. 226 93

It is well known that when the Horner's syndrome is congenital, a defect in pigmentation of the iris is usual; all or part of the iris remains light brown. We reported an adult case of congenital Horner's syndrome with remission and relapse of unilateral ptosis. A 25-year-old man was admitted to our hospital for ophthalmologic surgical treatment of right ptosis. According to the patient's mother, the patient was delivered with the aid of forceps at birth, and the right ptosis was observed during the first few days of his life. At 2 to 3 years of age, his parents noted lighter color of the right eye. The right ptosis was gradually improved as he grew older. However, he developed right ptosis again with left meralgia paresthesia since eighteen age. At age 25 years, he was noted to have right ptosis, right miosis (the left pupil measured 4.5 mm in diameter and the right 3.0 mm), right heterochromia iridis with pigmented iris nevi, and left meralgia paresthesia . Laboratory data of urine, blood and CSF as well as radiological studies of chest X-ray, skull X-ray, spine X-ray, brain MRI and spinal cord MRI showed unremarkable. Sweating test was intact, pharmacologic test to Horner's syndrome with 5% cocaine and 1.25% 1-epinephrine indicated that the damage was pointed to the post ganglionic sympathetic neuron. Ten patients with congenital Horner's syndrome reported in Japan since 1953 were reviewed including our case. Ten of eleven were male and Horner's sign was recorded on the left eye in 8 cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An adult case of congenital Horner's syndrome with heterochromia iridis--with special reference to alteration of Horner's sign associated with development]. 269 Nov 67

We reported a female with vascular dementia due to chronic disseminated intravascular coagulation (DIC). The patient underwent operation for skin hemangiomas three times at age 18, 27, and 38. At age 43, she presented a slowly progressive dementia. She had bluish, compressive hemangiomas of skin and upper gastrointestinal tract, and she was suspected to have hemangiomas of brain, pleura, mediastinum, liver and pancreas. The hemangiomas were diagnosed blue-rubber-bleb-nevus syndrome (BRBNS). Laboratory data revealed persistent increase of serum FDP, FDP-D, FDP-E, and D-dimer. This condition was considered chronic DIC, therefore this case was the first case of combination of BRBNS and Kasabach-Merritt syndrome (chronic DIC). Brain MRI demonstrated bilateral lesions of paraventricular deep white matter and hemangioma of left temporal lobe. Because cerebral CT showed no contrast enhancement in paraventricular lesions, the lesions were considered multiple cerebral infarctions. Central nervous system (CNS)involvement in BRBNS is rare, and most cases of CNS involvement were associated with CNS angiomata. In this case it was suggested that brain was the target organ of DIC because thrombomodulin is absent or few in the human brain, therefore vascular dementia (multiple cerebral infarctions) developed due to chronic DIC.
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PMID:[Blue-rubber-bleb-nevus syndrome presented vascular dementia and chronic DIC--a case report]. 275 49

Given current clinical use of phospholipid bilayer structures (liposomes/vesicles) as nontoxic drug delivery vehicles, we have addressed the possibility of employing the phospholipids themselves as MRI contrast agents. To this end we have synthesized phosphatidylcholine with a nitroxide spin label replacing one methyl residue of the choline headgroup. This material was mixed with natural phosphatidylcholine in mole ratios from 1:50 to 1:1 and used to prepare sonicated unilamellar vesicles in saline. Expected structural features of these vesicles were verified by freeze-fracture electron microscopy. Proton T1 values of saline were readily decreased to less than 0.3 s by such preparations, yielding a net relaxivity of 0.6 M-1 s-1. The approach seems to be a realistic way of firmly associating a contrast agent of minimal toxicity with ordinary liposomes/vesicles in a manner that is not subject to leakage.
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PMID:A phospholipid spin label used as a liposome-associated MRI contrast agent. 368 67

A 5-month-old girl presented with infantile spasms and psychomotor retardation. She was born with epidermal nevi on the right side of the head, the right arm and the back. MRI of the head showed a right hemimegalencephaly limited to the temporal lobe. There were no MRI signs of neocortical dysplasia. Ultrasonography revealed multiple cysts in both ovaria and a small solid lesion in the left adrenal gland. Hemimegalencephaly represents an overgrowth phenomenon; the isolated temporal lobe hypertrophy can be explained as a mild expression of hemimegalencephaly. To our knowledge this has not been described before.
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PMID:Epidermal nevus syndrome with isolated enlargement of one temporal lobe: a case report. 762 46

Plastic surgeons who treat congenital giant nevi should be aware of the neurocutaneous melanosis syndrome and its variants. When neurologic symptoms are present concurrent with MRI evidence of central nervous system involvement, treatment of the cutaneous lesion must be tempered by knowledge of a poor prognosis. In the otherwise asymptomatic patient, the plastic surgeon should consider screening with MRI imaging, realizing that the clinical significance of a positive MRI scan without neurologic symptoms is unknown.
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PMID:Primary temporal melanoma without diffuse leptomeningeal involvement: a variant of neurocutaneous melanosis. 780 26

A complete ocular examination is essential for the correct diagnosis of a malignant melanoma of the choroid. The single, most important technique is indirect ophthalmoscopy associated with biomicroscopy of the fundus. Fluorescein angiography may provide additional arguments for malignancy, but with this method it is not always possible to differentiate a malignant melanoma from a suspected naevus or even a choroidal metastasis. Fluorescein angiography provides however a detailed and objective document which allows a better follow-up of suspected lesions. As with infrared angiography, choroidal vessels are more readily seen, this technique may prove to be of diagnostic importance. A- and B-scan ultrasonography are essential to precisely measure a choroidal lesion. Especially A-scan may also allow tissue differentiation. Diaphanoscopy is especially useful in the diagnosis of choroidal haemangioma. Even naevi may provide relative or absolute scotomas. The diagnostic importance of perimetry is therefore very limited. CT-scan and especially MRI are helpful in detecting extra-ocular extension. In case of atypical naevi, a close observation for potential growth is advised. Malignant melanomas of the choroid have to be differentiated from other fundus tumours, but also from inflammatory and degenerative conditions.
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PMID:Diagnosis and differential diagnosis of malignant melanomas of the choroid. 804 33


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