Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q9UL83 (She)
55,362 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a nineteen-year-old women with the cerebral form of malaria tropica is reported. She showed hyperpyrexia, abdominal manifestations, haemolysis and disseminated intravascular coagulation. Cerebral symptoms amounting to grade IV encephalopathy occurred. The patient responded rapidly to the administration of chloroquine, anticonvulsants, dextran, corticosteroids, antipyretics, blood and antithrombin III and her symptoms had almost completely vanished one week after the onset of therapy.
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PMID:[Course and intensive treatment of acute falciparum malaria (author's transl)]. 37 59

A 52 year old woman with a history of mild pancreatitis had a palpable mass in the upper abdomen. She died in an unexplained coma. The autopsy revealed an excessive hyperplasia of the exocrine pancreatic tissue resulting in the largest pancreas ever reported (254 gramm). This hyperplasia was accompanied by a chronic pancreatitis. In the central nervous system a Wernick's encephalopathy had developed; severe loss of neurons was stated in the thalamus; extensive degeneration was found in the upper vermis of the cerebellum. The discussion of this case includes the relationship between the diseases of the pancreas and neuropsychiatric and neuropathologic findings. It is assumed that the hyperplasia of the exocrine pancreatic tissue could only be an additional factor in the occurence of post alcoholic complications. This hyperplasia of the exocrine pancreatic tissue is considered to be a hamartom-like formation and it should therefore be distinguished from other pancreatic hyperplasia.
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PMID:[Excessive hyperplasia of the exocrine pancreatic tissue and Wernicke's encephalopathy (author's transl)]. 59 98

Cruveilhier-Baumgarten Disease is a rare clinical entity. The distinction between C-B Disease and C-B syndrome rests solely on the liver morphology. In C-B Disease, the liver is morphologically normal. A case of a 27-year-old juvenile diabetic female with C-B Disease is presented. She manifested many of the metabolic and hemodynamic changes of cirrhosis including portal hypertension, encephalopathy, and a hyperdynamic cardiovascular state. There was also associated splenomegaly, hypersplenism, and splenic artery aneurysms. Splenectomy and splenic artery ligation were performed. Liver biopsies had normal morphology. The patient has had no recurrence of her symptoms. The pathogenesis of C-B Disease is unknown.
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PMID:Cruveilhier-Baumgarten disease with associated splenic artery aneurysms. 86 36

An episode of transient encephalopathy after the first course of intravenous high-dose methotrexate (HD-MTX; 1000 mg/m2) was observed in a 4-year-old girl with acute lymphoblastic leukemia. The neurological abnormalities took place 5 days after HD-MTX therapy. She experienced complex partial seizure and left hemiparesis, which resolved spontaneously in 5 days. Cranial computed tomographic scan and magnetic resonance imaging showed multiple low-density lesions in bilateral hemispheres. It is well appreciated that neurotoxicity from MTX follows prolonged exposures, often accompanying or following radiation therapy. To our knowledge, however, there have been no reports that such neurological complications developed following a single exposure of HD-MTX in patients with ALL. Follow-up electroencephalograms showed that she had periodic lateralized epileptiform discharges (PLEDS), suggesting functional deafferentation of cortical neurons following HD-MTX. Moreover, the serum and CSF MTX levels following a second low-dose course and her clinical course suggested that she had presumably central nervous system leukemia at the time of HD-MTX therapy, which might have been related to neurological complications. The pathogenesis of MTX-induced neurotoxicity is discussed.
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PMID:Transient encephalopathy following a single exposure of high-dose methotrexate in a child with acute lymphoblastic leukemia. 138 40

A 25-year-old woman with cerebral palsy of spastic quadriplegia and athetosis showed typical cardiac arrest encephalopathy on neuropathology. The etiology of cerebral palsy was perinatal origin including prematurity, asphyxia and hyperbilirubinemia. Ventricular premature beats had developed since about 20 years of age. Muscle tone also increased with aging and symptoms of vago-vagal reflex were occasionally observed after eating. At 25 years, cardiac arrest occurred and cardiopulmonary resucitation was done immediately. She remained unconscious with absent corneal reflex and irregular respiration. EEG or auditory brain stem response showed flat activity. She died of respiratory failure 53 days after the episode of cardiac arrest. Neuropathology showed bilaterally symmetrical necrosis in the superior colliculi, gracilis nuclei, cuneate nuclei and spinotrigeminal nuclei accompanied with severe necrosis in the cerebrum and cerebellum. These findings in this adult case of total asphyxia were compatible with those observed in total plus partial asphyxia in the neonates. This discrepancy may be due to difference in cerebral maturity. Children or young adults with athetotic type cerebral palsy have a high risk of sudden death. Sudden cardiac arrest seems to play an important role in sudden death of these patients.
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PMID:[A case of cardiac arrest encephalopathy in athetotic cerebral palsy]. 138 32

A 5-year-old girl was admitted to our hospital because of fever, vomiting, diarrhea, convulsion and disturbance of consciousness. She was diagnosed as having acute encephalopathy, which is characterized by the symmetrical low density area in the thalami on CT. Serial MRI findings revealed the bleeding with edema in the thalami, and multifocal lesions with prolonged T1 and T2 relaxation time in the acute phase of the illness. Multifocal lesions were no longer found two months later. The sequential changes on the images about the bleeding in the thalami were not confirmed by simultaneous CT scans. The findings of the bleeding in the thalamic lesion are consistent with those of an autopsy report previously described and indicate the vascular involvement in the thalami in acute encephalopathy, which is characterized by the symmetrical thalamic lesions with the characteristic finding of low density on CT scans.
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PMID:[A case of acute encephalopathy with symmetrical low density areas in the thalami on CT; serial CT and MRI findings]. 152 May 14

The dialysis encephalopathy syndrome (DES) consists of altered mental status, communication difficulty, seizures and myoclonus. It has been attributed to elevated serum aluminium (A1) levels. Two undialysed patients with chronic renal failure who presented with the characteristic syndrome are reported. The first, a 48 year old female, had used A1 containing phosphate binders for two years. Her serum A1 level was 25.34 mumol/L. Despite treatment with desferoximine and dialysis, she died. Necropsy revealed elevated A1 levels in the cerebral cortex (19 mcg/gm) and spongioform change in the outer three cortical layers. The second patient, a 46 year old woman, had a serum A1 of 8.70 mumol/L. She had never taken A1 containing phosphate binders but had taken several grams/day of citrate for at least six months. Treatment with haemodialysis and discontinuation of the citrate produced a resolution of symptoms and return of the A1 level to normal. During two years of haemodialysis there has been no recurrence.
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PMID:Aluminium intoxication in undialysed adults with chronic renal failure. 152 41

In 1987, a 69-year-old female suffering from epilepsy and right hemiparesis was admitted to the hospital and given conservative therapy. During the next three weeks she became a stuporous state. Steroids were then prescribed, and she made a complete recovery. Following hormonal and immunological investigations, a diagnosis of Hashimoto's disease with hypothyroidism was made. Following her discharge, thyroxin and anticonvulsant treatments continued. On May 30, 1989, at the age of seventy-one, the patient was found lying unconscious at home, and taken to our hospital. She had signs of a confused state, and seizures of her right arm on admission. Cranial computed tomography (CT) revealed a low density area in the left parieto-occipital lobe, which was heterogeneously enhanced by contrast medium. Magnetic resonance imaging (MRI) showed a lesion of low signal intensity in T1-weighted images and high signal intensity in T2-weighted images, which was homogeneously enhanced by Gd DTPA. Cerebral angiography disclosed no abnormality. Two weeks later, follow-up CT showed that the lesion had become larger and markedly enhanced. A brain tumor, probably malignant lymphoma, was suspected. On June 14, stereotaxic biopsy of the enhanced lesion was performed. Histopathological examination disclosed dense infiltration of the entire walls of many small parenchymal vessels, both arterioles and venules, by lymphocytes. Treatment for angiitis (betamethasone 16 mg daily) was started on June 20, then gradually tapered, and the lesion diminished on CT. Our case has some features of both isolated angiitis of the central nervous system and encephalopathy in compensated Hashimoto's disease. It is suggested that some common base of the autoimmune diseases exists in this case.
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PMID:[Isolated angiitis of the CNS associated with Hashimoto's disease]. 161 79

We reported a female infant with early myoclonic encephalopathy (EME). She was diagnosed on the basis of clinical and laboratory features including electroencephalographic and magnetic resonance image (MRI) findings. Frequent erratic myoclonic seizures appeared since 28 days after birth and EEG showed a typical suppression-burst pattern. We administered a high-dose pyridoxal phosphate, thyrotropin-releasing hormone analogue (TRH), and then ACTH, but could not control the seizures at all. With seizure types, we observed the change from erratic myoclonus to tonic spasms in series, with concomitant EEG change to hypsarhythmia at the age of 6 months. Cranial MRI revealed delayed myelination in the white matter but no brain malformation. We administered ACTH to her again and succeeded partially in the decrease of the seizure frequency, and significantly in the improvement of EEG findings. It is supposed that the responsiveness to ACTH treatment changed with age as the seizure patterns developed from erratic myoclonus to tonic spasm.
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PMID:[A longitudinal study of clinical and electroencephalographic findings in a female infant with early myoclonic encephalopathy]. 165 45

A 44-year-old female with malignant astrocytoma received subtotal removal and high dose (200 mg/m2) intra-arterial 1-(4-amino-2-methyl-5-pyrimidinyl)methyl-3-(2- chloroethyl)-3-nitrosourea hydrochloride (ACNU) with autologous bone marrow transplantation. Tumor remission with minimal bone marrow suppression was achieved. However, she developed severe encephalopathy and computed tomographic scans revealed a low-density area at the ACNU delivery site. She received glycerol solution to treat the brain edema and recovered completely from the encephalopathy. Intra-arterial ACNU exceeding 200 mg/m2 possibly causes neurotoxicity.
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PMID:Treatment of malignant glioma with high dose intra-arterial ACNU and autologous bone marrow transplantation--case report. 172 15


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