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)

Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized by occipital seizures. It may be benign or drug-resistant, sometime evolving into severe epileptic encephalopathy. Gluten free diet (GFD) efficacy seems to be inversely related to the duration of epilepsy and the young age of the patient. Patients with cerebral calcifications (CC) and coeliac disease (CD) without epilepsy are considered as having an incomplete form of CEC syndrome. Some patients with epilepsy and CC without CD are supposed to have a CEC syndrome with silent or latent CD. Whether CEC syndrome is a genetic condition, or whether epilepsy and/or CC are a consequence of an untreated CD is unknown yet. Since histopathological findings seem to be the expression of vascular calcified malformation, CEC syndrome may be considered a genetically determined entity, such as a type of Sturge-Weber-like phacomatosis. Moreover, CEC, as well as CD, is associated with HLA-DQ2 and HLA-DQ8 phenotype and genotype. The progressive growth and late occurrence of CC before beginning a GFD, the demonstration of anti-gliadin antibodies in the cerebro-spinal fluid and the association with HLA class II genes, suggest that an immune reaction originating from the jejunal mucosa, triggered by gliadin in gluten intolerance predisposed subjects (HLA phenotype) may be responsible for seizures and CC. Moreover, a long-lasting untreated CD folic acid deficiency may cause calcifications. Probably, CEC is considered a genetic, non-inherited, ethnically and geographically restricted syndrome associated with environmental factors.
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PMID:Coeliac disease, epilepsy and cerebral calcifications. 1573

Rasmussen syndrome is an intractable epilepsy with a putative causal relation with cellular and humoral autoimmunity. Almost half of the patients have some preceding causative factors, with infections found in 38.2%, vaccinations in 5.9% and head trauma in 8.9% of Japanese patients. In a patient with seizure onset after influenza A infections, cross-reaction of the patient's lymphocytes with GluR epsilon 2 and influenza vaccine components was demonstrated by lymphocyte stimulation test. Database analyses revealed that influenza A virus hemagglutinin and GluR epsilon 2 molecules contain peptides with the patient's HLA class I binding motif (HLA - A*0201). The relative risks of HLA class I genotypes for Rasmussen syndrome are 6.1 (A*2402), 6.4 (A*0201), 6.3 (A*2601) and 11.4 (B*4601). The relative risks of HLA class I-A and B haplotypes are infinity (A*2601 + B*5401), 21.1 (A*2402 + B*1501), 13.3 (A*2402 + B*4801) and 5.1 (A*2402 + B*5201). Some alleles and haplotypes of HLA class I may be the risk factors in Japanese patients. Cross-reactivity of cytotoxic T lymphocytes may contribute to the processes leading from infection to the involvement of CNS.
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PMID:Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I. 1716 82

We report a patient with adolescent-onset, Rasmussen's encephalitis, presenting with intractable focal seizures, mild hemiparesis, cognitive impairment, dystonia, and severe hemiballism. His father had Behcet's disease, considered to be an autoimmune disorder. Recent reports have directly implicated the role of cytotoxic T lymphocytes in the pathogenesis of both Rasmussen's encephalitis and Behcet's disease. The occurrence of Behcet's disease and Rasmussen's encephalitis in the same family suggests involvement of common genetic factors such as HLA haplotypes in both autoimmune disorders. It is possible that members of this family are genetically susceptible to developing autoimmune conditions that have been precipitated by separate environmental triggers.
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PMID:Rasmussen's encephalitis and Behcet's disease: autoimmune disorders in first degree relatives. 1901 75

Early central nervous complications (CNS) are significant after allogeneic stem cell transplantation; however, the clinical characteristics of early CNS complications have not yet been well described. The medical record of 77 patients who underwent cord blood transplantation (CBT) between March 2001 and November 2005, at 8 centers of the Nagoya Blood and Marrow Transplantation Group were retrospectively reviewed. The preparative regimen included myeloablative CBT (n = 31) or reduced-intensity (RI)-CBT (n = 46). Of the 77 patients, 10 (13%) developed early CNS complications. Causes included Cyclosporine encephalopathy (n = 5), tacrolimus encephalopathy (n = 2), thrombocytic microangiopathy (n = 1), and unknown (n = 3). The median time of onset was 19 days (range: 2-58 days). All of the 10 patients developed impaired consciousness. Seizures developed in 6 patients. Early CNS complications spontaneously subsided in 3 patients. Three patients responded to cyclosporine or tacrolimus discontinuation. The remaining 4 patients died within 30 days of developing of early CNS complications. No relationship was detected between the preparative regimen and the onset of early CNS complications, while an HLA disparity showed borderline significance (hazard ratio, 3.24; 95% confidential interval, 0.94-11.20; P = .06). Early CNS complications are a significant problem after CBT, and the clinician has to be aware of the possibility of these complications.
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PMID:Early central nervous complications after umbilical cord blood transplantation for adults. 1913 47

Posterior reversible encephalopathy syndrome (PRES) is an uncommon but distinctive clinical-radiologic entity characterized by headache, seizures, visual disturbance, and altered mental function associated with reversible white matter edema affecting the posterior parietal and occipital lobes of the brain. Although PRES is caused by a variety of conditions, acute elevation of blood pressure, fluid retention, and treatment with immunosuppressive drugs and/or anti-neoplastic agents are the main causes. A few cases of PRES associated with hematopoietic stem cell transplantation (HSCT) in children have been reported. Early recognition of PRES and appropriate management are needed to reduce the risk of permanent neurologic disability. The authors report a case of PRES in a girl who received an HLA-identical sibling bone marrow transplantation for myelodysplastic syndrome to emphasize the importance of early recognition and institution of appropriate management of PRES during HSCT.
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PMID:A case of posterior reversible encephalopathy syndrome in a child with myelodysplastic syndrome following allogenic bone marrow transplantation. 2012 56

This study was conducted to investigate the etiology, the clinical characteristics and prognosis of acute necrotizing encephalopathy (ANE) in Korean children. Six children (1 yr to 7 yr) patients with ANE were enrolled. They were diagnosed by clinical and radiological characteristics and their clinical data were retrospectively analyzed. In a search of clinically plausible causes, brain MRI in all patients, mitochondrial DNA studies for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and myoclonus epilepsy and ragged red fibers (MERRF) in four patients, and genomic typing on HLA DRB/HLA DQB genes in three patients were performed. All had precedent illnesses and the main initial symptoms included mental change (83%), seizures (50%), and focal deficits (50%). MRI revealed increased T2 signal density in the bilateral thalami and/or the brainstem in all patients. Mitochodrial DNA studies for MELAS and MERRF were negative in those children and HLA-DRB1*1401, HLA-DRB3*0202, and HLA-DQB1*0502 seemed to be significant. A high dose steroid was given to all patients, which seemed to be partly effective except for 2 patients. In conclusion, ANE is relatively rare, but can result in serious neurological complication in children. Early detection and appropriate treatment may lead to a better neurological outcome.
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PMID:Clinical spectrum and prognostic factors of acute necrotizing encephalopathy in children. 2019 Oct 46

Hematopoietic cell transplantation (HCT) involves the intravenous infusion of hematopoietic progenitor cells from an HLA-matched donor (allogeneic) or from the patient (autologous). Prior to HCT, the recipient is prepared (conditioning) with high-dose chemotherapy or radiotherapy (or both) to destroy defective bone marrow or residual cancer cells. After allogeneic HCT, there is the need for chronic immunosuppression to prevent graft rejection and graft-versus-host disease (GVHD). The frequency and type of neurologic complications depends on the type of HCT, the underlying disease, and the case ascertainment. In this review, the neurologic complications are presented according to the stage of HCT that they are most likely to occur: (1) conditioning-drug-related encephalopathies and seizures or complications secondary to medical procedures; (2) bone marrow depletion-metabolic and drug-related encephalopathies and seizures, septic cerebral infarctions, and hemorrhages; (3) chronic immunosuppression-infections by viruses and opportunistic organisms; and (4) late events-central nervous system (CNS) relapses of the original disease, neurologic complications of GVHD, and second neoplasms.
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PMID:Neurologic complications of hematopoietic cell transplantation. 2057 35

The 2010 US FDA-Drug Industry Association (DIA) Pharmacogenomics Workshop, the fifth in a series of meetings that begun in 2002, brought together multidisciplinary experts from regulatory authorities, medical research, healthcare and drug development. This article summarizes the 'Designing Pharmacogenomic Studies to be Fit for Purpose' track in which considerations regarding the use of retrospective and prospective studies were examined in relation to their ability to influence treatment decisions and labeling for drugs. The aim of the session, using real-world examples (KRAS/panitumumab and HLA-B*5701/abacavir), was to identify good scientific principles that would guide the design of studies to identify subgroups of responders during development programs (including marketed drugs), which could subsequently be used to guide treatment decisions.
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PMID:Designing pharmacogenomic studies to be fit for purpose. 2114 8

Antiepileptic drugs-induced Stevens-Johnson syndrome (SJS) is a life-threatening severe cutaneous adverse reaction. Recent studies in Thailand and Taiwan showed a significant association between phenytoin (PHT)-induced SJS and human leucocyte antigen HLA-B*1502 allele. Although the US FDA had issued an alert to clinicians, insufficient information is available to recommend testing for HLA-B*1502 in Asian patients in line for PHT treatment. Therefore, extended studies are necessary to further evaluate the potential association between PHT-induced SJS and HLA-B*1502 allele in various populations. To date, no similar data exist in mainland China. Here, we describe two Chinese Han cases of PHT-induced SJS with negative HLA-B*1502 allele, in which HLA high-resolution genotyping showed two heterozygous HLA-B*4601/B*5102 and HLA-B*3701/B*4601 allele, respectively. Our findings provide evidence to support that other genetic markers or nongenetic factors could contribute to the susceptibility of PHT-induced SJS, except for HLA-B*1502 allele. Further studies are encouraged to investigate the genetic link with PHT-induced serious skin reactions in future.
Seizure 2011 Jun
PMID:Phenytoin-induced Stevens-Johnson syndrome with negative HLA-B*1502 allele in mainland China: two cases. 2133 26

In this study we investigated the association between autoantibodies production and MHC class II alleles in fifty three Egyptian children patients with systemic lupus erythematosus (SLE). A significant association was found between expression of HLA-DR4 and HLA-DR13 genes and the generation of anti-ribonucleoprotein and IgG cardiolipin antibodies respectively, in contrast to the negative association of antinuclear antibodies (ANA) with HLA-DR8 and HLA-DR14. Analysis of HLA-DR alleles and autoantibodies frequencies in relation to different clinical manifestations revealed significant association between HLA-DR13 and vasculitis, while, HLA-DR1 and HLA-DR3 were significantly associated with seizures. In contrast, HLA-DR8, HLA-DR4 and HLA-DR52 alleles were associated with significant protection from arthritis, abnormal kidney function and neuropsychiatric disorders, respectively. SLE autoantibodies, namely anti-DNA antibodies were significantly associated with disturbed kidney function tests and the occurrence of seizures. In contrast, nucleosome antibodies showed no association with renal involvement in childhood onset systemic lupus erythematosus.
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PMID:Human leukocyte antigen and autoantibodies association with juvenile systemic lupus erythematosus. 2205 58


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