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)

alpha-Aminoadipic acid (alpha AA) is an intermediate in lysine metabolism. We report a new case with alpha AA excess in urine and plasma, without alpha-ketoadipic acid, in a full-term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clonazepam, and Vigabatrin and death occurred on the 38th day of life. Brain imaging suggested antenatal haemorrhage. Small quantities of alpha AA were also detected in the blood and urine of both parents and a healthy brother, all three of whom exhibited the same defect in platelet aggregation as the deceased child. Both parents had decreased levels of plasma neopterin, a finding that might be related to the immunodeficiency described in other cases.
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PMID:Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage. 762 43

Patients infected with the human immunodeficiency virus (HIV) appear to have a high risk of ischaemic cerebral events. We observed two cases of cerebral infarction in patients with acquired immune deficiency syndrome (AIDS). In the first case, a 38-year-old homosexual with no cardiovascular risk other than smoking presented with rapidly progressive hemiparesia. Brain CT-scan visualized two infarcts in the territory of the right sylvian artery and the arteriography an occlusion of the internal carotid artery. In the second, a 37-year-old homosexual, hospitalization was required for a left-sided pure sensitive epilepsy seizure. There was no cardiovascular risk other than smoking. Magnetic resonance imaging showed parietal ischaemia and thrombus in the left atrium without atrial hypertrophy was seen at transoesophageal echocardiography. In both cases, there was no evidence of endocarditis, dissection of the neck vessels or disseminated intravascular coagulation nor of associated viral or bacterial infectious complication of AIDS. Angiographic findings eliminated cerebral vascularitis. Among the perturbed haemostasis factors previously reported in HIV+ patients, we observed free proteins S deficiency (68 and 43%) and heparin cofactor II deficiency (54 and 40%). Serum albumin was 33 and 32 g/l respectively. Outcome was favourable in both cases with anticoagulant therapy. These coagulation anomalies would not appear sufficient to explain cerebral infarction. Other mechanisms including immune complexed deposition, direct HIV toxicity for endothelial cells or the effect of cytokines on smooth muscles fibres and fibroblasts are probably more important causal factors.
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PMID:[Cerebral infarction in human immunodeficiency virus infection]. 763 44

Echogenic stripes in the basal ganglia were identified sonographically in a 4-month-old infant with human immunodeficiency virus (HIV) infection. This lenticulostriate arteriopathy correlated well with histologically identified early alterations of HIV encephalopathy in children. At 3 years and 5 months, CT examination performed after three seizures showed calcification in the area of the sonographically affected arteries but no signs of progressive encephalopathy. The child's mental and motor development have remained normal until now. Cerebral sonography performed in early infancy may allow identification of HIV encephalopathy even before its clinical manifestation.
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PMID:Calcifying arteriopathy in the basal ganglia in human immunodeficiency virus infection. 776 Nov 76

The successful management of nocardial brain abscess remains problematic. The authors report 11 cases of nocardial brain abscess treated between 1971 and 1993 and review 120 cases reported since 1950. The clinical findings included focal deficits in 55 patients (42%), nonfocal findings in 36 (27%), and seizures in 39 (30%). Extraneural nocardiae were present in 66% of the cases; pulmonary (38%) and cutaneous/subcutaneous (20%) locations were the most frequent. The abscesses were single in 54% of the patients, multiple in 38%, and of unknown number in 8%. Forty-four of 131 patients (34%) were immunocompromised; since 1975, 18 of 40 immunocompromised patients (45%) were transplant recipients and six (15%) had human immunodeficiency virus. The mortality rate was 24% after initial craniotomy and excision (11/45), 50% after aspiration/drainage (17/34), and 30% after nonoperative therapy (7/23); 29 cases (22%) were diagnosed at autopsy. The mortality rate was 33% in patients with single abscesses and 66% in those with multiple abscesses (P < 0.0003). There was no difference in the mortality rates of immunocompromised and nonimmunocompromised patients treated before computed tomography (CT) was available; since the advent of CT, however, the mortality rate has been significantly higher in immunocompromised patients (55% vs. 20%, P < 0.05). Although the mortality rate for nocardial brain abscesses has dropped almost 50% since the advent of CT, it has remained virtually unchanged in immunocompromised patients and is three times higher than that of other bacterial brain abscesses (30% vs. 10%). The authors recommend image-directed stereotactic aspiration for diagnosis; however, craniotomy and total excision are necessary in most cases, because nocardial abscesses are usually multiloculated. Patients with minimal neurological deficits or small abscesses may be treated initially with antibiotics alone. Sulfonamides, alone or in combination with trimethoprim, are most effective and should be continued for at least 1 year. Minocycline, imipenem, or aminoglycoside in combination with a third-generation cephalosporin may be used with reasonably good success as second-line agents in cases of allergy or nonresponsiveness to sulfa agents.
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PMID:Nocardial brain abscess: treatment strategies and factors influencing outcome. 780 4

Seizures are a recognized complication of human immunodeficiency virus (HIV)-type-1 infection. CNS disease processes in these patients include encephalitis, focal brain lesions, and meningitis. Metabolic causes of seizures have received little attention. In a retrospective study, we selected 68 HIV-seropositive patients with new-onset seizures and information available for specified metabolic factors on the day of the first seizure. We sought an association of metabolic abnormalities with convulsive status epilepticus (CSE), which was the initial seizure in 12 patients, predominantly intravenous (i.v.) drug users. HIV-seropositive patients with new-onset seizures and hypomagnesemia or renal failure appeared to be at increased risk for CSE. All HIV-seropositive patients with new-onset seizures should undergo metabolic screening including renal function and serum magnesium levels.
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PMID:Metabolic abnormalities and new-onset seizures in human immunodeficiency virus-seropositive patients. 782 Dec 71

A 7 year old girl with intrachromosomal triplication 46,XX,-15,+der(15)(pter-->q13::q13-->q11::q11-->qter) resulting in tetrasomy of 15q11-q13 is reported. Fluorescence in situ hybridisation confirmed that the tetrasomic region included the entire segment normally deleted in Prader-Willi and Angelman syndrome patients, and breakpoints were similar to those reported in two tandem duplications of 15q11-q13. The middle repeat was inverted, suggesting a possible origin through an inverted duplication intermediate. Microsatellite analysis showed that the rearrangement was of maternal origin and involved both maternal homologues. Clinical findings included multiple minor anomalies (a fistula over the glabella, epicanthic folds, downward slanting palpebral fissures, ptosis of the upper lids, strabismus, a broad and bulbous tip of the nose, and small hands and feet), motor and mental retardation, a seizure disorder, and limited verbal abilities. In addition, immunological examination disclosed a selective immunodeficiency. The overall phenotype did not clearly resemble that of cases with tetrasomy 15pter-q13 associated with an extra inv dup(15)(pter-->q13:q13-->pter) chromosome. The latter aberration causes more severe mental deficit and intractable seizures, but less marked phenotypic alterations, although some overlap in mild facial dysmorphic features is present. A number of features common to Angelman syndrome were also observed in the patient.
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PMID:Intrachromosomal triplication of 15q11-q13. 783 57

The full range and occurrence of medical conditions in persons infected with human immunodeficiency virus (HIV) before they develop illnesses that define acquired immunodeficiency syndrome (AIDS) have not been systematically or completely described. In a retrospective and prospective cohort study, 1,073 homosexual and bisexual men in three US cities were interviewed and examined twice per year from January 1988 to September 1992. Study participants were from San Francisco, California (273 HIV-seropositive and 432 HIV-seronegative men), Denver, Colorado (107 positive and 129 negative men), and Chicago, Illinois (54 positive and 78 negative men). A total of 305 HIV-positive men had specifiable dates of HIV seroconversion (mean of 15.3 months between the last negative and the first positive HIV antibody test). Besides much increased incidences of thrush (incidence relative risk (IRR) = 23.3) and hairy leukoplakia (IRR = 551), the following conditions also occurred significantly more frequently in HIV-positive men than in HIV-negative men: anal herpes (incidence density (ID) = 10.7/100 person-years; IRR = 7.7); sinusitis requiring antibiotics (ID = 6.2/100 person-years; IRR = 2.1); anal warts (ID = 5.8/100 person-years; IRR = 2.7); seborrhea (ID = 3.8/100 person-years; IRR = 6.6); community-acquired pneumonia (ID = 1.4/100 person-years; IRR = 2.7); skin cancers (ID = 1.0/100 person-years; IRR = 2.2); and seizures, often apparently "breaking through" prior anticonvulsant therapy (ID = 0.8/100 person-years; IRR = 5.6). First episodes of hairy leukoplakia, thrush, and skin cancer occurred at low mean CD4 counts (mean counts were less than 350 cells/microliters) and late in HIV infection (mean times were more than 8 years after HIV seroconversion). Many medical problems, some not widely appreciated, occur in HIV-infected men before they develop AIDS-defining illnesses, signifying considerable morbidity from pre-AIDS HIV infection.
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PMID:The spectrum of medical conditions and symptoms before acquired immunodeficiency syndrome in homosexual and bisexual men infected with the human immunodeficiency virus. 853 42

The authors report on a clinicopathological study of 89 surgical patients with histologically proven primary parenchymal brain lymphoma, all diagnosed between January 1975 and December 1990. The cohort included 60 men and 29 women whose median age at diagnosis was 60 years (range 14 to 84 years). The duration of symptoms was less than 8 weeks in 48% of the patients. Symptom groups included focal neurological deficit (73%), neuropsychiatric symptoms (28%), seizures (9%), and increased intracranial pressure (3%). A total of 132 tumors were seen in 89 patients: the most common sites were frontal (32 patients), temporoparietal (31 patients), and basal ganglia (17 patients); multiple lesions were reported in 23 patients. No patient had antecedent of human immunodeficiency virus positivity or acquired immunodeficiency syndrome. A family history of cancer was present in 33% of the patients, three-quarters of whom were first-degree relatives. Histological subtypes (National Cancer Institute Working Formulation) included 64 large cell (72%) and 13 immunoblastic (15%) tumors. Phenotype was determined in 66 patients: 63 were B-cell type and three were T-cell type. Surgical resection was performed in 47% of the cases, with the remainder undergoing biopsy only. All but six patients received radiation therapy. Thirty-one patients received chemotherapy, whereas 46 patients did not; data on the remaining 12 patients were unavailable. The end point of the study was death from any cause. At the time of last contact, 69 of the patients (78%) had died; the median survival time for this study group was 20.9 months. On univariate analysis, prognostic factors significantly associated with survival included age at diagnosis, family history of cancer, and focal neurological deficit. Multivariate analysis revealed four unfavorable prognostic factors: age greater than or equal to 60 years, history of cancer in first-degree relatives, focal deficit, and ependymal contact. After adjustment for these variables, clinical syndrome, size and number of lesions, extent of surgery, histological cell type, radiation dose, and use of chemotherapy were not significantly associated with survival.
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PMID:Primary intracerebral malignant lymphoma: a clinicopathological study of 89 patients. 789 14

A 34-year-old man with partial DiGeorge syndrome suffered from seizures and mental retardation from the age of three years. He was diagnosed as having primary hypoparathyroidism by the Ellsworth-Howard test at the age of 22. He was also found to have a right aortic arch. Immunological studies revealed the presence of immature T cells (CD 38+, OKT 9+), although the subsets and function of his T cells were almost normal. The facts that the cardiovascular anomaly and immunodeficiency were mild and the hypoparathyroidism was well controlled, may account for his survival to this age.
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PMID:Partial DiGeorge syndrome at the age of thirty-four. 794 42

Tetanus is an infection caused by Clostridium tetani. In the United States, tetanus remains a significant problem primarily among nonimmunized or inadequately immunized individuals. This article reports a fatal case of tetanus that occurred in a 45-year-old parenteral drug abuser who presented to Harlem Hospital Center with nuchal rigidity, trismus, dysphagia, and spasms of the pectoralis musculature. Multiple cutaneous ulcerations also were observed. Despite aggressive measures that included: endotracheal intubation, administration of human tetanus, hyperimmune globulin, tetanus toxoid, and intravenous penicillin, the patient rapidly deteriorated and manifestations of heightened sympathetic nervous system activity, seizures, and cardiac arrest ensued. The diagnosis of tetanus must be based upon clinical grounds. Clinicians must remain aware of the possibility of tetanus, especially among drug abusers who also are more likely to be evaluated for complications of human immunodeficiency viral infection, which in some cases may mimic tetanus or make the diagnosis more difficult to establish.
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PMID:Tetanus in a parenteral drug abuser: report of a case. 818 56


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