Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042384 (vasculitis)
 20,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the first two cases, to their knowledge, of retinal vasculitis, associated with Q fever. The first case was a chronic infection induced by Coxiella burnetii associated with HLA group A29 and B12; in the second case, the phenotype was B12. The authors tried to determine whether this agent could be the "Birdshot chorioretinopathy" promoting factor. Several epidemiologic findings tend to prove that Q fever is not the only cause. On the other hand, its similarity with rickettsia, the fact that it is found in patients with vasculitis, suggest that it could be one of the initial causal factors.
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PMID:[Is A29, B12 vasculitis caused by the Q fever agent? (Coxiella burnetii)]. 143 Aug 9

As a result of a careful study of 150 patients with systemic lupus erythematosus (SLE) they could be distributed in 8 clinico-immunologic groups of the disease. Group I included patients with lupus nephritis manifesting by the nephrotic syndrome, group II patients with systemic vasculitis, group III patients with CNS injuries, group IV was made up of patients with discoid lupus, group V of patients with the prevailing damage to the respiratory organs, group VI of patients with hematologic disorders, group VII of patients with generalized visceral SLE, and group VIII included patients with generalized "peripheral" SLE. It was established on HLA typing that on the whole the patients with SLE manifested the increased frequency of HLAA11, B7, B35, DR2 and DR3 antigens. The patients' groups differed in primary carriership of certain antigens. Group I demonstrated a significant increase of the frequency of HLAA9, B13 and DR3, group II of HLADR2, group III of HLAB7, B12 and DR2, group IV of HLAB12, B13 and DR3, group V of HLAA1 and B8, group VII of HLADR1, and group VIII of HLAB35 and DR3. Group VI which was not numerous did not show any clinicogenetic association. The clinicoimmunologic polymorphism can be partially due to the genetic heterogeneity of certain patients' groups with SLE.
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PMID:[Subgroups of patients with systemic lupus erythematosus]. 278 84

In many countries, increasing rates of skin eruptions are attributed to non-steroidal anti-inflammatory drugs (NSAIDs). They are usually mild, and life-threatening reactions such as Stevens-Johnson Syndrome (SJS) or toxic epidermal necrolysis (TEN) are rare. The commonest reactions are pruritus, morbilliform rashes, urticaria and photosensitivity. Urticaria is most frequent in salicylate-sensitive patients, and photosensitivity--a real clinical problem with benoxaprofen--is mainly a phototoxic reaction, predictable from preclinical studies. Other skin reactions are unusual although purpura and cutaneous vasculitis have been attributed to NSAIDs. The main concern is bullous drug reactions--erythema multiforme (EM), SJS and TEN. Whilst EM and SJS have many other causes besides drugs, most cases of TEN are drug-induced. NSAIDs have played an increasing role in the aetiology of TEN and it may be that drugs with a longer serum half-life carry higher risk, especially when administered to patients for infectious complaints who have a predisposing genetic background (HLA-B12). In pre- and post-marketing studies of a new drug, careful attention must be paid to the nature of side-effects, as a high rate of mild reactions belonging to the EM spectrum may be indicative of higher risks of SJS and TEN.
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PMID:Clinical aspects of skin reactions to NSAIDs. 296 Oct 55

Lower extremity symptoms are caused by lesions at any level of the neuraxis, from cortex to muscle. HIV affects virtually every level of the nervous system, either directly or indirectly. The presence of pathology at multiple levels and by multiple processes further complicates the bedside diagnosis of a patient with AIDS and neurologic symptoms. Many neuropathies and other conditions that affect the lower extremities can be identified with careful history and physical examination, confirmed with limited testing, and can be treated successfully. Distal symmetric polyneuropathy is the most common lower extremity disorder, but it must be distinguished from similar-appearing neuropathies caused by medications, B12 deficiency, or vasculitis. Diffuse infiltrative lymphocytosis syndrome also causes a painful peripheral neuropathy that must be distinguished from distal symmetric polyneuropathy. Inflammatory demyelinating polyneuropathies are characterized by muscle weakness. They occur in early, asymptomatic HIV infection and respond to plasmapheresis or steroids. Mononeuropathies in patients with CD4 counts more than 200 often resolve on their own. Multiple mononeuropathies, which occur in patients with CD4 counts less than 50, are often associated with cytomegalovirus infection and may follow a rapidly progressive course unless treated promptly and aggressively. Progressive polyradiculopathy occurs late in the course of AIDS, is often caused by cytomegalovirus, is rapidly progressive, and generally is fatal unless recognized and treated promptly. Muscle weakness, myalgia, and fatigue are common in HIV and have multiple causes. Lower extremity spasticity may be caused by treatable etiologies such as spinal cord abscess, tumor, disc compression, B12 deficiency, or ischemia. Gait disturbances are common but nonspecific and may be caused by treatable neurologic disorders at any level of the neuraxis.
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PMID:Neurologic problems of the lower extremity associated with HIV and AIDS. 957 54

Eales' disease is a primary retinal perivasculitis of an undetermined etiology seen predominantly in the Indian subcontinent and rarely in the West. Strong HLA association has been proven in retinal vasculitis of Behcet's disease. HLA association of Eales' disease is unknown and therefore the present study was undertaken to determine the same. The frequency of 30 HLA antigens (9 HLA-A antigens, 10 HLA-B antigens, 3 HLA-C antigens, 7 HLA-DR antigens and 1 HLA-DQ antigen) was studied by standard micro-lymphocytotoxicity test in 57 patients with Eales' disease and 50 age and sex-matched normal persons as controls. Both the patients and controls underwent complete ocular and clinical examinations and laboratory investigations. Inflammatory diseases similar to Eales' disease were ruled out in the patients before they were enrolled. Statistically significant higher phenotype frequencies of HLA B5 (B51), DR1 and DR4 were observed among patients with Eales' disease as compared to controls. The gene frequency of HLA B5 (B51) in our group of patients and controls was comparable with other earlier studies in the Indian population. The finding of significant association of Eales' patients with positive disequilibrium ( ) haplotypes A3-B44 and A11-B12 may be related to the development of this disease. The presence of the above HLA antigens may be indicative of predisposition to Eales' disease.
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PMID:Profiling of human leukocyte antigens in Eales' disease. 975 36

In Crohn's disease, some concomitant neurological illnesses such as cerebral ischemia following arterial or venous thrombosis, subacute combined degeneration of the spinal cord following malabsorption of vitamin B12 or folic acid, opticus neuropathy, and polyneuropathy have been described. Cerebral vasculitis secondary to Crohn's disease seems to be a very rare phenomenon. We report on three such cases in three female patients (aged 26, 29, and 61 years). All patients became symptomatic with a hemiparesis; one complained additionally of a speech disorder, headache, and intermittent loss of orientation. In CT and MRI scans, multiple lesions were detected; cerebral angiography showed multiple stenoses of middle- and large-sized vessels that were compatible with cerebral vasculitis. Serologic tests concerning vasculitis were inconspicuous at that time. Under anticoagulation (in two cases) and immunosuppressive therapy, neurologic symptoms disappeared. In the following 6 to 12 months, no new neurological symptoms appeared. In two cases, Doppler sonographic controls showed stationary and, in one case, progressive intracranial stenoses. Since autoimmunologically caused inflammatory bowel diseases might be associated with vasculitis of other organs, the appearance of cerebral vasculitis secondary to Crohn's disease is a possible organ manifestation by inflamed vessels.
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PMID:[Cerebral vasculitis as a concomitant neurological illness in Crohn's disease]. 1079 98

Neurological manifestations of gastrointestinal disorders are described, with particular reference to those resembling multiple sclerosis (MS) on clinical or MRI grounds. Patients with celiac disease can present cerebellar ataxia, progressive myoclonic ataxia, myelopathy, or cerebral, brainstem and peripheral nerve involvement. Antigliadin antibodies can be found in subjects with neurological dysfunction of unknown cause, particularly in sporadic cerebellar ataxia ("gluten ataxia"). Patients with Whipple's disease can develop mental and psychiatric changes, supranuclear gaze palsy, upper motoneuron signs, hypothalamic dysfunction, cranial nerve abnormalities, seizures, ataxia, myorhythmia and sensory deficits. Neurological manifestations can complicate inflammatory bowel disease (e.g. ulcerative colitis and Crohn's disease) due to vascular or vasculitic mechanisms. Cases with both Crohn's disease and MS or cerebral vasculitis are described. Epilepsy, chronic inflammatory polyneuropathy, muscle involvement and myasthenia gravis are also reported. The central nervous system can be affected in patients with hepatitis C virus (HCV) infection because of vasculitis associated with HCV-related cryoglobulinemia. Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a disease caused by multiple deletions of mitochondrial DNA. It is characterized by peripheral neuropathy, ophthalmoplegia, deafness, leukoencephalopathy, and gastrointestinal symptoms due to visceral neuropathy. Neurological manifestations can be the consequence of vitamin B1, nicotinamide, vitamin B12, vitamin D, or vitamin E deficiency and from nutritional deficiency states following gastric surgery.
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PMID:Neurological manifestations of gastrointestinal disorders, with particular reference to the differential diagnosis of multiple sclerosis. 1179 74

The disease course of a complete C4-deficient patient in the U.S. was followed for 18 years. The patient experienced multiple episodes of infection, and he was diagnosed with systemic lupus erythematosus at age 9 years. The disease progressed to WHO class III mild lupus nephritis and to fatal CNS vasculitis at age 23 years. Immunochemical experiments showed that the patient and his sibling had complete absence of C4A and C4B proteins and were negative for the Rodgers and Chido blood group Ags. Segregation and definitive RFLP analyses demonstrated that the patient and his sibling inherited two identical haplotypes, HLA A2 B12 DR6, each of which carries a defective long C4A gene and a defective short C4B gene. PCR and DNA sequencing revealed that the mutant C4A contained a 2-bp insertion in exon 29 at the sequence for codon 1213. The identical mutation was absent in the mutant C4B. The C4B mutant gene was selectively amplified by long range PCR, and its 41 exons were completely sequenced. The C4B mutant had a novel single C nucleotide deletion at the sequence for codon 522 in exon 13, leading to frame-shift mutation and premature termination. Thus, a multiplex PCR is designed by which known mutations in C4A and C4B can be elucidated conveniently. Among the 28 individuals reported with complete C4 deficiency, 75-96% of the subjects (dependent on the inclusion criteria) were afflicted with autoimmune or immune complex disorders. Hence, complete C4 deficiency is one of the most penetrant genetic risk factors for human systemic lupus erythematosus.
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PMID:The molecular basis of complete complement C4A and C4B deficiencies in a systemic lupus erythematosus patient with homozygous C4A and C4B mutant genes. 1213 86

Rheumatoid arthritis (RA) is a chronic inflammatory joint disease whose main complication is accelerated atheroma responsible for high rates of cardiovascular morbidity and mortality. Hyperhomocysteinemia is among the factors incriminated in RA-associated atheroma. We managed a 46-year-old patient with RA who required admission to evaluate severe arterial and venous disease with involvement of the coronary, renal, and peripheral arteries. She had no laboratory evidence of rheumatoid vasculitis or conventional cardiovascular risk factors (diabetes and hypercholesterolemia) and had never smoked. Her serum homocysteine level was elevated to 20.9 micromol/L as a result of a homozygous C667T mutation in the methylenetetrahydrofolate (MTHFR) gene. Folate and vitamin B12 levels were normal. A circulating anticoagulant was identified. Hyperhomocysteinemia, which is defined as a homocysteine level greater than 15 micromol/L, is a risk factor for arterial and venous disease. Hyperhomocysteinemia is found in 20%-42% of patients with RA. Methotrexate therapy is the most common causative factor. Other causes include MTHFR deficiency, vitamin B12 deficiency, renal failure, old age, and smoking. Whatever the underlying cause, folic acid supplementation returns the homocysteine level to normal.
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PMID:Severe atherosclerosis in rheumatoid arthritis and hyperhomocysteinemia: is there a link? 1845 79

Hyperhomocysteinemia is a risk factor for thromboembolic events of the retina associated with vascular venous or arterial occlusion. We describe a patient with occlusion of the peripheral arteriolar network without active vasculitis, associated with neovascular proliferation, peripheral vitreous-retinal traction and relapsing vitreous hemorrhage. The high serum homocysteine level resulting from vitamin B12 and folic acid deficiency, without further changes in the coagulation cascade including the test for Leiden's Factor V, indicates hyperhomocysteinemia as a direct causal factor in this clinical condition. Despite a high PPD, Eales Disease, a major differential diagnosis, was not fully considered, since it is established by exclusion. The patient was treated with photocoagulation and vitamin supplements and the condition was successfully controlled. Patients with retinal vascular obstruction should have their total plasma homocysteine levels measured, since this modifiable risk factor can be easily treated with dietary approaches including vitamin supplementation.
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PMID:[Peripheral retinal arterial obstruction associated with hyperhomocysteinemia: case report]. 1903 74


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