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

A unique association of Sturge-Weber syndrome and atlanto-occipital assimilation is presented. A 18-year-old male was admitted in emergency because of the sudden severe headache and vomiting. He had vascular nevus in the right half of the face at birth and several episodes of generalized convulsive seizures. On admission craniogram demonstrated calcification in the right occipital area. Neurological examination revealed tenderness in the nuchal region, moderate limitation of cervical mobility in a antero-posterior direction, Bruns-Cushing type nystagmus, bilaterally diminished gag reflex, and positive Romberg's test. Spinal tap showed crystal clear CSF with normal pressure. EEG showed paroxysmal slowing focus in the right parieto-occipital area. Polytomography of the craniovertebral junction demonstrated the unilateral atlanto-occipital assimilation on the left associated with the aplasia of the right posterior arch. Myelography was negative. A right carotid angiography disclosed the dilatation of the basal vein of Rosenthal and abnormal venous vasculature. CT-scan demonstrated the calcified region of the right occipital area more distinctly than the plain roentogenogram, but the enhancement study of the leptomeningeal angioma of the Sturge-Weber syndrome was negative. Never been found this rare association in a review of the literature, the authors discussed the clinical and radiological findings of both diseases.
 ...
PMID:[Sturge-Weber syndrome associated with atlanto-occipital assimilation: a report of a case (author's transl)]. 68 66

The role of prolactin and of estradiol and progesterone in the control of the biosynthetic and secretory activity of TIDA neurons has been investigated in the following animal models: young female rats, aged female rats, and young male rats. The indices of TIDA neuronal function employed were a) mass of TH in neurites in the ME, b) total in situ activity of TH in the ME, c) in situ molar activity of TH in the ME, and d) secretion of dopamine into hypophysial portal blood. It was found that prolactin in high concentration in the circulation and in the CSF had little, if any, effect on the mass of TH in the ME. However, a high concentration of prolactin in either the circulation or in the CSF stimulated significantly the in situ TH activity in the ME whether expressed in terms of total activity per ME or activity per mole of TH. The stimulation of TH activity with prolactin was prevented by immunoneutralization of circulating prolactin. A high concentration of prolactin in the CSF was as effective in stimulating TH activity in the ME of rats with intact pituitary glands as in hypophysectomized rats. In addition to prolactin, treatment of animals with intact pituitaries with a combination of estradiol and progesterone markedly stimulated the total in situ activity of TH of the ME as well as the in situ molar activity of TH of the ME, but neither estradiol nor progesterone alone had an effect on TH activity. Hypophysectomy abolished the stimulatory action of estradiol and progesterone on TH activity of the ME. In addition to the in situ activity of TH in the ME, estradiol-progesterone treatment stimulated the secretion of dopamine into hypophysial portal blood. Neither estradiol nor progesterone alone affected dopamine secretion by TIDA neurons. We conclude that exposure to high concentrations of prolactin or to both estradiol and progesterone stimulate the biosynthetic and secretory activity of TIDA neurons. These hormones are effective in old rats and well as young rats and in males as well as females.
 ...
PMID:The tuberoinfundibular dopaminergic neurons of the brain: hormonal regulation. 223 20

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)
 ...
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

A case of primary diffuse leptomeningeal melanoblastosis in a 46-year-old male is reported. His symptoms included headaches, transient hemiparesis, epileptic seizures and a progressive psychosyndrome. CT brain scans showed a slight enhancement of density in the subarachnoidal space. The disease was diagnosed by CSF cytology, using light microscopy, electron microscopy, autoradiography and cell culture. Systemic combined chemotherapy using Cisplatinum, DTIC, and Vindesine was without any significant response and he died 18 weeks after onset of the first complaints. Autopsy showed a diffuse infiltration of the entire leptomeninges by melanotic melanoblastoma cells invading the sagittal superior sinus. A thorough dissection including the orbital contents and skin nevi failed to reveal a primary tumor outside the CNS.
 ...
PMID:Review and case report: primary melanoblastosis of the leptomeninges. 399 6

Neurocutaneous melanosis is a rare congenital phacomatosis characterized by the presence of large or multiple congenital melanocytic nevi and benign or malignant pigmented cell tumors of the leptomeninges. A 14-month-old boy was admitted with a recent history of vomiting and drowsiness. He was found to have multiple congenital melanocytic nevi. Gd-enhanced MRI showed ventriculomegaly and leptomeningeal enhancement in the ambient cistern. CSF cytology revealed abnormal cells with pigmented granules. A diagnosis of hydrocephalus with malignant neurocutaneous melanosis was made. The patient was treated with combination chemotherapy (DAV therapy, ACNU intrathecal perfusion therapy, interferon beta therapy) while controlling intracranial pressure by CSF drainage, but in spite of treatment he died due to rapid progression of leptomeningeal infiltration. Postmortem examination revealed meningeal malignant melanomas predominantly at the base of the brain and benign meningeal melanosis over the cerebral cortex. Newborn infants or infants with large or multiple congenital melanocytic nevi should be carefully followed, especially for the first two years. When hydrocephalus or convulsions occur in patients with skin lesions, Cd-enhanced-MRI and careful CSF cytology studies should be performed to detect meningeal abnormalities.
 ...
PMID:[Neurocutaneous melanosis--a case report]. 819 43

Melanoma cells in culture express a variety of growth factors and cytokines and some of their autocrine and paracrine roles have been investigated. However, less information is available on the potential dynamic changes in expression of these molecules on cells during melanoma development and progression in situ. Using immunohistochemistry, we tested 40 nevi and primary and metastatic melanoma lesions for the expression of 10 growth factors and cytokines and the respective receptors representing 10 cell surface molecules. Nevi and thin (< 1 mm) primary melanomas showed little expression of ligands except weak reactivity of tumor necrosis factor-alpha (TNF-alpha), transforming growth factor-beta (TGF-beta), interleukin-8 (IL-8) and reactivity of TGF-betaR and c-kit. Marked up-regulation of growth factors, cytokines and receptor expression was observed in thick (> 1 mm) primary melanomas, which were stained with polyclonal or monoclonal antibodies (MAbs) for IL-1alpha, IL-1beta, IL-6, IL-8, TNF-alpha, TGF-beta, granulocyte-macrophage colony-stimulating factor (GMCSF) and stem cell factor (SCF), but not IL-2. Metastases showed similar expression patterns except that SCF was absent. Co-expression of ligand and receptor was observed for TGF-beta, GM-CSF and IL-6, suggesting an autocrine role for these ligands. TNF-alpha appears to be a marker of benign lesions; IL-6 and IL-8 expression is associated with biologically early malignancy; TGF-beta, GM-CSF and IL-1alpha are highly expressed in biologically late lesions; and TNF-beta is an apparent marker of metastatic dissemination. Our results indicate that melanoma cells utilize cascades of growth factors and cytokines for their progression.
 ...
PMID:Immunohistochemical evidence of cytokine networks during progression of human melanocytic lesions. 1009 49

Neurocutaneous melanosis (NCM) is a rare nonfamilial syndrome, characterised by large or numerous congenital pigmented nevi and excessive proliferation of melanin-containing cells in the leptomeninges. We report the MR findings in the brain and spine of a child with NCM who underwent neurosurgical treatment and was followed up for 8 years. The findings in this child (small hyperintense collections of melanocytes in both temporal lobes, mild meningeal enhancement along the spine and the development of an extensive subarachnoid CSF accumulation with cord compression and syringomyelia) are believed to be exceptionally rare.
 ...
PMID:Neurocutaneous melanosis with hydrocephalus, intraspinal arachnoid collections and syringomyelia: case report and literature review. 1078 14

In this study the expression of epidermal growth factor receptor (EGFR) and c-erbB-2, c-erbB-3 and c-erbB-4 oncogenes were investigated in gestational trophoblastic diseases and normal first trimester placenta. Furthermore, the possibility that macrophage (IL-1 alpha, IL-1 beta, TNF) and lymphocyte (IL-2, gamma-IFN, GM-CSF) cytokines effects are mediated by changes in EGFR expression were studied. Paraffin sections of 16 cases of partial mole, 25 cases of complete mole, 10 cases of gestational choriocarcinoma and 11 cases of therapeutic abortion were studied immunohistochemically for EGFR, c-erbB-2, c-erbB-3 and c-erbB-4 proteins. The presence of EGFR mRNA was studied using in situ hybridization. JEG-3 human choriocarcinoma cells were incubated with varying concentrations of interleukin 1-alpha, interleukin 1-beta, interleukin 2, gamma-interferon, granulocyte-macrophage colony stimulating factor and tumor necrosis factor-alpha, and the expression of EGFR was measured by radioimmunoassay using a murine monoclonal antibody with specificity for EGFR. Staining for EGFR was detected immunohistochemically in all cell type in gestational trophoblastic diseases and normal placenta. The levels of expression of EGFR in choriocarcinoma and syncytiotrophoblasts and cytotrophoblasts in complete mole were significantly greater than those in syncytiotrophoblasts and cytotrophoblasts in both normal placenta and partial mole (p < 0.01, p < 0.01). The immunoreactivity of c-erbB-2 was significantly stronger in choriocarcinoma and extravillous trophoblast in complete mole than that in extravillous trophoblast in partial mole and normal placenta (p < 0.02, p < 0.01, respectively). Strong immunostaining for EGFR (p = 0.02) and c-erbB-3 (p < 0.01) in extravillous trophoblasts of complete mole was found to be significantly correlated with the development of persistent postmolar gestational trophoblastic tumor. Macrophage-derived cytokines IL-1 alpha, IL-1 beta and TNF significantly suppressed cell growth; this was associated with a significant increase in EGFR expression. The lymphocyte (IL-2, gamma-IFN, GM-CSF) cytokines had no significant effect on either EGFR expression or cell growth. These findings support the concept that cytokines may act as paracrine mediators of autocrine processes involved in choriocarcinoma cell growth regulation by modulating growth factor receptor expression. The EGFR-related family of oncogenes may be important in the pathogenesis and prognosis of gestational trophoblastic diseases.
 ...
PMID:[The c-erbB-related oncoproteins in normal placenta and in gestational trophoblastic diseases (in vitro study)]. 1142 88

Choriocarcinoma are malignant neoplastic tumors from the trophoblastic tissue with a tendency to early metastases. Beside pulmonary metastases there are often cerebral metastases, leading to intracerebral hemorrhage often responsible for the first clinical symptoms. In young women, symptoms like vaginal or pulmonary bleeding or neurologic disturbances shortly after a hydatiform mole or a normal pregnancy, accompanied by high levels of HCG in serum and CSF, choriocarcinoma should be considered. Choriocarcinoma are very sensitive to chemotherapy, which consists--depending on the stage of the disease--of a mono- or polychemotherapy. Cure rates are high, even in extended stages with cerebral metastases--as in the case described. Brain metastases with or without oncotic aneurysms can be rapidly controlled by immediate whole brain irradiation. Surgical interventions may be necessary in the case of life threatening bleedings. Levels of HCG in serum and cerebrospinal fluid are good markers to control the effect of therapy. But--as shown in this patient--levels of HCG in CSF may decrease protracted without affecting prognosis. Oncotic aneurysms are rarely reported and mostly detected post mortem. The presented case leads to a more optimistic attitude and demonstrates efficacy of immediately started radio- and chemotherapy.
 ...
PMID:[Cerebral metastasis in choriocarcinoma a case report]. 1274 Nov

Neurological symptoms in a patient with large congenital melanocytic naevus are highly suggestive of cerebromeningeal melanoma metastasis. The presence of melanocytic cells in cerebrospinal fluid confirms this diagnosis If their malignant nature is shared with cutaneous naevocytic cells. Conversely, neurocutaneous melanosis is diagnosed when benign melanocytosis meningitis is found in patients with multiple and/or large congenital melanocytic naevus, whether cutaneous naevus cells are benign or not, or when cerebrospinal fluid cells are malignant with benign cutaneous melanocytic naevus. We report the case of a young man aged 19 presenting with multiple and large congenital melanocytic naevus who experienced transcient neurological signs and increased intracranial pressure. Cerebral neuroimaging evoked meningeal infiltration which benign melanocytic nature was supposed on CSF analysis and confirmed by necropsy findings, only 3 month after neurological onset, leading to neurocutaneous melanosis diagnosis. This rare neuroectodermal dysembryoplasia finds expression in various neurological signs, depending on patient's age and leptomeningeal and/or cerebral proliferation localization. Lumbar puncture, cerebral scanography and MRI may help diagnosis, but only histological examination can prove neurocutaneous melanosis, more often by necropsy because of poor prognosis.
 ...
PMID:[Melanocytic meningitis and large congenital melanocytic naevus: neurocutaneous melanosis]. 1277 73


1 2 Next >>