Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To investigate pathophysiologies of Mycoplasma pneumoniae infection from an immunological point of view, we measured the levels of interleukin-18 (IL-18) (originally designated gamma interferon [IFN-gamma]-inducing factor) in 19 serum samples from 10 patients with pneumonia without pleural effusion (ages 1 to 16 years), 3 serum and 13 pleural fluid samples from 11 patients with pleural effusions (ages 11 months to 15 years), and 18 serum and 27 cerebrospinal fluid samples from 24 patients with central nervous system complications (ages 1 to 15 years). IL-18 was measured by a commercially available enzyme-linked immunosorbent assay kit (MBL, Nagoya, Japan). In addition, the levels of tumor necrosis factor alpha, IFN-gamma, IL-6, IL-12, and KL-6 (a mucin-like glycoprotein expressed on type 2 pneumocytes) were measured in selected samples. The results concerning pleural effusions showed that elevated levels of IL-18 in pleural fluid, but not in serum, were solely associated with a sustained fibrotic change of the lung on chest roentgenography which might represent a pathological feature of intraluminal organization. All the pleural fluid samples with elevated levels of IL-18 were positive by PCR for M. pneumoniae DNA. There was no association between IL-18 and IFN-gamma levels in serum or in the pleural fluid. On the other hand, elevated levels of IL-18 in serum, but not in cerebrospinal fluid samples, were observed in the cases complicated by central nervous system involvement, including profound brain dysfunction with seizures. Our study demonstrated that M. pneumoniae can induce IL-18 and that the enhanced local production of IL-18 in the lung is closely associated with pulmonary disease manifestation.
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PMID:Close association between pulmonary disease manifestation in Mycoplasma pneumoniae infection and enhanced local production of interleukin-18 in the lung, independent of gamma interferon. 1106 97

Progressive mucinous histiocytosis is a rare, benign, non-Langerhans' cell histiocytosis limited to the skin. Ten cases--all women--in four families and one sporadic case have been described in the literature. The disorder usually begins in childhood and progresses slowly. We report two sporadic cases of adult-onset progressive mucinous histiocytosis in unrelated African-American women, aged 48 and 55 years, respectively, who developed red-brown and flesh-coloured, asymptomatic papules on the face, the arms and the legs without truncal, mucosal or visceral involvement. The lesions showed no spontaneous regression. Both patients lacked associated systemic symptoms, including polyuria, polydipsia or seizures. There was no underlying hyperlipidaemia, paraproteinaemia or lymphoproliferative disease. No family history of similar lesions could be identified. Light microscopy revealed dermal proliferation of spindle-shaped histiocytes with abundant mucin deposition. Electron microscopy demonstrated a high number of myelin figures or zebra bodies in the cytoplasm of histiocytes. On immunohistochemistry, positive staining with macrophage markers--CD68, HAM56 and lysozyme--and factor XIIIa, a transglutaminase present in dermal dendrocytes, and negative staining with Langerhans' cell markers--CD1a and S100--and CD34, a marker present in dermal dendritic cells derived from uncommitted mesenchymal cells, were observed.
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PMID:Two sporadic cases of adult-onset progressive mucinous histiocytosis. 1642 Mar 13

The mechanisms involved in the pathogenesis of epilepsy, a chronic neurological disorder that affects approximately one percent of the world population, are not well understood. Using a mouse model of epilepsy, we show that seizures induce elevated expression of vascular cell adhesion molecules and enhanced leukocyte rolling and arrest in brain vessels mediated by the leukocyte mucin P-selectin glycoprotein ligand-1 (PSGL-1, encoded by Selplg) and leukocyte integrins alpha(4)beta(1) and alpha(L)beta(2). Inhibition of leukocyte-vascular interactions, either with blocking antibodies or by genetically interfering with PSGL-1 function in mice, markedly reduced seizures. Treatment with blocking antibodies after acute seizures prevented the development of epilepsy. Neutrophil depletion also inhibited acute seizure induction and chronic spontaneous recurrent seizures. Blood-brain barrier (BBB) leakage, which is known to enhance neuronal excitability, was induced by acute seizure activity but was prevented by blockade of leukocyte-vascular adhesion, suggesting a pathogenetic link between leukocyte-vascular interactions, BBB damage and seizure generation. Consistent with the potential leukocyte involvement in epilepsy in humans, leukocytes were more abundant in brains of individuals with epilepsy than in controls. Our results suggest leukocyte-endothelial interaction as a potential target for the prevention and treatment of epilepsy.
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PMID:A role for leukocyte-endothelial adhesion mechanisms in epilepsy. 1982 10

Amniotic fluid embolism (AFE) is a rare, unforeseeable, unpreventable, and dreadful complication of pregnancy. Histological diagnosis is still the criterion standard for its detection because of the lack of any reliable clinical laboratory tests. The diagnosis of AFE has a close association with medicolegal aspects of obstetric death. Amniotic fluid embolism occurs when massive amount of amniotic fluid abnormally enters the maternal venous system. We report a case of a 33-year-old healthy woman (G2, P2, L1) admitted to a private nursing care hospital with 37 weeks gestation for delivery. She normally delivered a healthy 2.8-kg infant boy. After 15 minutes of delivery, she developed tonic-clonic seizures, breathlessness, and loss of consciousness and died within 4 hours after onset of symptoms. The sudden death of a healthy mother led to medical negligence claim by the relatives, and a police case was filed against the private nursing care obstetrician. Despite a brief clinical history, meticulous microscopic examination of lungs revealed pulmonary microvasculature filled with fetal squamous cells, hair, and mucin. The final cause of sudden maternal death was given as AFE and pulmonary edema. This report highlights the importance of detailed microscopic examination of lungs and the need to study as many histopathologic sections as possible to rule out this entity.
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PMID:Amniotic fluid embolism: a cause of sudden maternal death and police inquest. 2283 73

Cortical ependymomas are rare gliomas with classic ependymal features but are unusual in primarily involving the cerebral cortex. Here, we present a 19-year old woman with new-onset seizures who was found to have a large, cortically based non-enhancing lesion with scalloping of the overlying calvarium. Abundant ependymal features were present including classic ependymal cytology, diffuse GFAP and dot-like EMA positivity, and well developed cilia, microvilli, and intercellular junctions on ultrastructural analysis. Additionally, the tumor showed areas of infiltrative growth similar to angiocentric glioma as well as striking mucin-filled microcystic spaces somewhat reminiscent of myxopapillary ependymoma. Thus far, the patient shows no evidence of recurrence following gross total resection. This case demonstrates detailed morphologic, immunohistochemical, and ultrastructural evidence supporting a relationship between cortical ependymoma and angiocentric glioma and suggesting that cortical ependymomas can have myxopapillary as well as classic features.
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PMID:Cortical ependymoma with unusual histologic features. 2345 70

Paranasal mucoceles are benign slow-growing paranasal sinus lesions, which usually develop following the obstruction of the sinus ostiu. They most frequently occur in the frontal sinus. Frontal mucoceles are expansive lesions usually causing visual clinical signs and symptoms such as diminution of vision, visual field defects, diplopia, orbital swelling, retroorbital pain, displacement of eye globe, ptosis, and proptosis. When the frontal mucocele extends intracranially, it can manifest with meningitis, meningoencephalitis, intracranial abscess, seizures, or cerebrospinal fluid fistula. Very rarely it can cause forehead swelling. We report an 80-year-old woman presenting with a forehead skin ulcer and painless subcutaneous forehead induration. Histopathologic examination revealed mucin deposition and inflammation. Computerized tomography (CT) and magnetic resonance imaging (MRI) scans showed a mass originating from the frontal sinus with frontal bony defect and frontocutaneous fistula. Surgical excision of the mass confirmed the mucocele diagnosis. In this article, we present a case of frontocutaneous fistula and skin ulcer, which is an unexpected complication of frontal mucocele. We propose that in the case of a localized non-healing ulcerated forehead skin lesions, mucocele should be considered in the differential diagnosis.
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PMID:Unusual case of frontal mucocele presenting with forehead ulcer. 2541 50

Scleromyxoedema is a rare disease characterized by a generalized papular and sclerodermoid cutaneous eruption. It is associated with fibroblast proliferation and mucin deposition in the dermis. Most patients have a monoclonal gammopathy, defined by the presence of IgG. Treatment of scleromyxoedema is challenging, but there is mounting evidence to support the use of intravenous immunoglobulin (IVIg). Individual reports of systemic complications have been described. Dermatoneuro syndrome (DNS) is a rare but sometimes fatal manifestation, which consists of a triad of fever, coma and seizures preceded by a flu-like illness. We describe a patient with scleromyxoedema who developed DNS. Our case highlights interesting findings suggesting that DNS may have a viral aetiology. In addition, this case demonstrates a favourable response of the cutaneous features of scleromyxoedema to IVIg.
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PMID:Does dermatoneuro syndrome have a viral aetiology? 2617 17

A 52-year-old woman was admitted with a 3 weeks history of periorbital edema and lips swelling. She developed several subcutaneous firm erythematous papules and nodules on the face, scalp and two indurated plaques on the upper back and left forearm. These lesions grew rapidly. The patient had a positive history of epileptic seizures since childhood. General examination was normal. There was a mild pitting edema on her hands and feet. Laboratory data were within normal limits. Histopathological examination revealed a well circumscribed accumulation of mucin in the dermis. Alcian blue stain was positive. Clinical and histopathological findings followed by spontaneous resolution of the lesions within a period of 4 months was compatible with diagnosis of self-healing cutaneous mucinosis. Herein we report the first case of self-healing cutaneous mucinosis associated with epilepsy.
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PMID:Adult Variant of Self-healing Cutaneous Mucinosis in a Patient with Epilepsy. 2724 46

Myxopapillary ependymoma (MPE) is a histological variant of ependymoma found in the conus medullaris or filum terminale region. Intracranial occurrence of the tumor is a rarity. The most characteristic histological feature of myxopapillary tumors is the abundance of intercellular and perivascular mucin and the arborizing vasculature, which tends to form papillae. We are reporting a 14-year-old patient presented with seizures caused by the right occipital region intraparenchymal lesion. Histopathology confirmed it to be MPE. Lesion was excised completely. Literature reviews on the topic are discussed regarding the histological findings, natural history, and outcome of surgically treated MPE. This is the fifth reported case of cerebral intraparenchymal primary MPE.
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PMID:Occipital Intraparenchymal Myxopapillary Ependymoma: Case Report and Literature Review. 2911 96