Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A prospective study of 98 consecutive adults with a first seizure to determine the most important etiological factors and the optimum diagnostics. 27 were thought to have cryptogenic seizures. Main causes of symptomatic seizures were: cerebral infarction, alcohol-withdrawal, CNS infections, tumors, vascular malformations, traumatism and miscellanea. Eight were infected by human immunodeficiency virus (HIV-1) representing 8.2% of all the patients with a first seizure and 20% of the 15-45-year age group. CT disclosed structural lesions in 33 cases. MRI in those with normal CT and no other explanation of seizure revealed additional lesions in 22.2%, but did not change management in any. We conclude that CT is essential in evaluation of adults with first seizure. MRI may be useful in selected cases. The HIV-infected now represent an important group with a first seizure.
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PMID:First seizure in adults: a prospective study from the emergency department. 141 22

Increased concentrations of the excitotoxin quinolinic acid (QUIN) have been implicated in the neurologic deficits and brain atrophy that may accompany infection with the human immunodeficiency virus type-1. Key neuropathologic features of the AIDS encephalitis are replicated in some macaques following infection with the simian immunodeficiency virus (SIV). In the present studies, cerebrospinal fluid (CSF) QUIN concentrations increased within 2 weeks following infection of 11 rhesus macaques (Macaca mulatta) with a neurotropic sooty mangabey isolate of the simian immunodeficiency virus (SIVsm) and were sustained to greater than 2 standard deviations above uninfected control macaques. Highest CSF QUIN concentrations (up to 400-fold above pre-inoculation levels) were observed in 6 SIVsm-infected macaques with motor and behavioral abnormalities during life, brain atrophy on MRI scan and inflammatory lesions within the brain and meninges. Four of the 6 neurologic macaques deteriorated rapidly within 12 weeks after inoculation and had substantially larger increases in CSF QUIN levels than 2 other neurologic macaques and 5 macaques without neurologic signs which survived for longer than 37 weeks. Increases in serum QUIN and CSF kynurenic acid also occurred but generally to a lesser degree than the increases in CSF QUIN. In some animals, increases in serum L-kynurenine concentrations and reductions in CSF and serum L-tryptophan occurred and were consistent with activation of indoleamine-2, 3-dioxygenase, the first enzyme of the kynurenine pathway in extrahepatic tissues. CSF QUIN exceeded serum QUIN in 8.8% of samples from macaques with neurologic signs, supporting increased QUIN synthesis within the central nervous system. Production of [13C6]QUIN was demonstrated in one SIVsm-infected macaque and one uninfected control macaque following an intracisternal injection of [13C6]L-tryptophan and suggests that L-tryptophan is a substrate for QUIN synthesis within the nervous system or meninges, although the cellular localization of QUIN synthesis remain to be determined. We conclude that increases in kynurenine pathway metabolism occur in SIV-infected macaques and are most prominent in macaques with neurologic signs. Macaques infected with SIV offer a model to investigate the relationship between the metabolism of neuroactive kynurenines and neurologic disturbances associated with retroviral infection.
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PMID:Relationship of neurologic status in macaques infected with the simian immunodeficiency virus to cerebrospinal fluid quinolinic acid and kynurenic acid. 153 32

We describe two human immunodeficiency virus (HIV)-infected patients with syphilitic cerebral gummas. Both patients presented with a seizure disorder associated with an isolated, peripherally located, contrast-enhancing lesion of the brain on CT. Cranial MRI performed on one patient revealed dural thickening in the region of the lesion. A brain biopsy in that patient revealed a lymphoplasmacytic infiltrate with extensive perivascular inflammation. Clinical manifestations, radiographic resolution of the lesions, and a decline in nontreponemal serologic tests for syphilis followed high-dose aqueous penicillin therapy in both patients. These patients illustrate that (1) cerebral mass lesions occurring with HIV infection may result from syphilis; (2) seizures may be the presenting manifestation of this form of neurosyphilis; and (3) high-dose, intravenous, aqueous penicillin is effective in treating these lesions.
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PMID:Syphilitic cerebral gumma with HIV infection. 162 Mar 34

Previous studies of the frequency of high-signal lesions in human immunodeficiency virus (HIV) infection have had methodological weaknesses regarding lack of control groups, differing machine strengths, and biased subject selection. To obtain a more accurate estimate of prevalence, MRI scans were performed on 243 HIV-positive and HIV-negative homosexual or bisexual men with no history of intravenous drug use. Axial T2-weighted (long TR/TE, spin-echo) MRI scans were rated blindly for presence of focal white matter high-signal lesions. Incidence of hyperintensities was low in all groups, although slightly higher in patients with AIDS, and was not associated with neuropsychological performance. The lower incidence of hyperintensities appears to relate to elimination of methodological problems in previous studies.
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PMID:Magnetic resonance imaging of white matter lesions in HIV infection. 162 78

One hundred and one persons infected with human immunodeficiency virus (HIV-1), in whom other central nervous system infections or diseases were excluded, underwent brain CT and/or MRI at various stages of HIV-1 infection: 29 were asymptomatic (ASX), 35 had lymphadenopathy syndrome (LAS), 17 had AIDS-related complex (ARC), and 20 had AIDS. A control group of 32 HIV-1-seronegative healthy persons underwent brain MRI. The most common finding was brain atrophy, found in 9% of controls, and 31% of ASX cases, 29% of LAS, 59% of ARC and 70% of AIDS. Even the difference between the ASX or LAS groups and controls was significant. The changes were bilateral and symmetrical, and they were more severe at later stages of infection. Infratentorial atrophy was seen in the early stages; supratentorial atrophy became more pronounced at ARC, and generalized atrophy was typical of AIDS. Non-specific small hyperintense foci were found on MRI in 13% of controls and 6-15% of the infected groups. Larger, diffuse, bilateral white matter infiltrates were detected in 4 demented patients with AIDS. Four patients with AIDS and 1 with LAS had focal hyperintense lesions in the internal capsules, lentiform nuclei or thalamus, often bilateral on MRI. One patient with AIDS, examined with CT only, had low density in the lentiform nucleus. Loss of brain parenchyma can occur at an early stage of HIV-1 infection, and the atrophic process becomes more intense at later stages (ARC and AIDS). Parenchymal infiltration, seen as hyperintense areas on MRI, is most often associated with severe clinical symptoms, in the later stages of the disease.
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PMID:Radiological study of the brain at various stages of human immunodeficiency virus infection: early development of brain atrophy. 163 Jun 7

The human immunodeficiency virus infected persons frequently have manifestations of central nervous system disfunction. These can be primary involvement or secondary processes such as infections or tumors. The present paper presents a short review of radiologic CNS findings in patients with AIDS as seen on CT and or MRI. The radiologic findings of HIV-1 encephalitis, toxoplasmosis, primary CNS lymphoma, PMLE, cryptococcosis, histoplasmosis, CMV encephalitis, HVS and varicella are presented. We expect this will ultimately help in the management of the AIDS patient.
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PMID:CNS involvement in AIDS patients as seen with CT and MR: a review. 181 9

Three types of lymphoma of the central nervous system are known: primary non-Hodgkin's malignant lymphoma (NHML), secondary NHML and neurological lesions of Hodgkin's disease. NHML's are rare tumours, often associated with immunodeficiency and presenting predominantly as neuropsychological disorders. In this study 8 patients were explored by CT and MRI, with pathological confirmation. None of our patients had AIDS. The most typical neuroradiological image of this type of tumour is that of a large and intensely contrast-enhanced tumoral mass which is often multifocal and periventricular with infiltration of the subarachnoidal spaces and leptomeninges. Mass effect and perifocal oedema are less pronounced than expected with tumours of that size. NHML's may totally regress under corticosteroid therapy. This tumour of obscure aetiology must be recognized as it is now increasingly frequent.
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PMID:Primary and secondary lymphomas of the brain: an MRI study. 191 83

Cerebral infection with human immunodeficiency virus can result in the development of symptoms covering a wide spectrum of psychiatric disorders and including adjustment disorders, affective disorders, delirium and dementia. The rapid and insidious nature of the disease requires an approach that relies on differential diagnosis, thorough psychiatric and neurological examination and, when indicated, additional tests such as EEG, LP, CT or MRI. The treatment of psychiatric symptoms is based on traditional pharmacological principles, although at lower doses due to the patients' propensity to develop delirium. Supportive psychotherapy and education of the patient and his family on the special aspects of HIV-associated psychiatric disorders are also cornerstones of treatment.
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PMID:[HIV infection of the central nervous system: psychiatric consequences]. 338 Oct 71

CT and MRI are not consistently able to differentiate central nervous system (CNS) lymphoma from focal cerebral infection such as toxoplasmosis in the human immunodeficiency virus (HIV) involvement. In this study thallium 201 (and/or technetium-MIBI) SPECT was performed in 6 patients suffering from AIDS and CNS lesions. An index based on the ratio of thallium uptake in the lesion vs the contralateral scalp was calculated. In 4 out of 5 patients with lymphoma (3 confirmed by biopsy, 2 highly suspected on CT and resistance to antitoxoplasmosis treatment) focal lesions showed high uptake of thallium. On the other hand one markedly necrotic lymphoma and all infectious lesions did not take up thallium. This suggests a role for thallium 201 brain SPECT in the workup of focal CNS lesions in AIDS.
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PMID:[Cerebral lesions in AIDS: what can be expected from scintigraphy? Cerebral tomographic scintigraphy using thallium-201: a contribution to the differential diagnosis of lymphomas and infectious lesions]. 747 40

Recently, a new syndrome of early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) was reported in Japan. The clinical features of EOCA-HA overlap with those of Friedreich's ataxia (FA), and primary hypoalbuminemia is a characteristic laboratory finding of this syndrome. Genetic linkage analysis of EOCA-HA including this newly reported family revealed that the gene for EOCA-HA is located on the long arm of chromosome 9 as FA. However, several recombination events were observed between D9S15 in EOCA-HA, whereas no recombination events were seen in FA. We report on two siblings with EOCA-HA and discuss the clinical and laboratory features. The patients were a 25-year-old man (patient 1) and a 23-year-old man (patient 2). Their parents marriage was non-consanguineous. The mode of inheritance is compatible with autosomal recessive mode. Clinically, they showed cerebellar ataxia as the initial symptom in the late infantile period and subsequently showed choreoathetosis and ocular motor apraxia at the age of approximately fifteen years. Deep tendon reflexes were reduced in late infancy and finally disappeared. Amyotrophy and sensory impairment of the legs developed at approximately twenty. Abnormal electrocardiogram and diabetes mellitus were not observed. On X-ray CT scan or MRI, the cerebella of both patients were mildly atrophic. Clinical features in these siblings were indistinguishable from those of ataxia telangiectasia, but immunodeficiency syndrome was absent.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Siblings of early onset cerebellar ataxia with hypoalbuminemia]. 778 Dec 24


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