Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
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Raynaud's syndrome manifests as a progressive color change of the fingers in response to cold, vibration or stress; the digits first turn white, then blue and finally red. The condition is called Raynaud's disease when it is a benign, primary condition. When it is secondary to another disease, such as lupus, scleroderma or atherosclerosis, it is termed Raynaud's phenomenon. Laboratory tests, i.e., complete blood count, chemistry screen, antinuclear antibody, lupus erythematous test and rheumatoid factor, should be used to seek underlying diseases before the symptoms are manifest. Other tests should be selected as indicated by the history and physical. There are many adjustments in lifestyle and working conditions that the patient can use to minimize the symptoms of Raynaud's syndrome. The primary care provider has an important role in teaching patients to protect their hands from the effects of cold, stress, nicotine and vibration. Adaptive devices and protective clothing minimize the symptoms of Raynaud's syndrome.
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PMID:The diagnostic puzzle and management challenge of Raynaud's syndrome. 845 39

Thermoregulation involves a long term adaptation system with hormonal processes and an immediate regulation system by extrapyramidal tracts, sympathetic part of autonomic nervous system and cortical integration of body temperature changes. Both system are under control of a hypothalamic center. Prolonged accidental exposure to intense cold and myxoedematous coma are the best known etiologies of hypothermia. However milder and often misdiagnosed hypothermia can occur at home in patients without endocrinologic disease. In these cases, hypothermia is due to dysfunction of immediate thermregulation under neuronal control, especially somatomotor and autonomic system. We report four cases of hypothermia of this kind. Two patients had an inhibition of peripherical mechanisms of protecting against cold (cutaneous vasoconstriction, shivering) and had dampened perception of cold: one was 73, had diabetes mellitus and took different drugs, the other one suffered from systemic lupus with myelopathy. The two other patients probably had a disorder of the thermoregulation hypothalamic center: one had Wernicke's encephalopathy and the other multiple sclerosis. From these cases and a review of the literature, we describe the different etiologies of hypothermia and their pathophysiology.
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PMID:[Hypothermia and the nervous system. Review of the literature apropos of 4 cases]. 876 Jun 89

We present the unusual case of 16-year-old girl who developed intractable convulsions five days after the onset of a cold. Meningeal signs, lymphopenia, proteinuria, and lupus anticoagulant were also present. Treatment with anticonvulsants, antituberculous agents, and adenine arabinoside were ineffective. The initiation of methylprednisolone pulse therapy immediately resolved convulsions and fever. The diagnosis, suggested by the clinical course and the marked improvement of the meningoencephalitis by pulse therapy, was an encephalitic form of acute disseminated encephalomyelitis. Clinical and laboratory findings indicated that an immune disorder may have triggered an abnormal response to a viral infection leading to this patient's neurologic disorder.
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PMID:Patient with both lupus anticoagulant and acute disseminated encephalomyelitis. 889 67

An adolescent aged fifteen, with no family history of interest, presented the following cutaneous lesions from the age of two onwards: photosensitive dermatitis in the form of erythematous plaques on the face, purplish erythematous papules on fingers, scaly inflammatory plaques in the nostrils histologically compatible with discoid lupus, and frequent skin infections in the form of folliculitis, furuncles and abscesses (with positive cultures for Staphylococcus aureus) evolving slowly into cold sores in various sites. Slow, partial improvement occurred after treatment with topical corticoids and topical and oral antibiotics. Of the complementary explorations performed, general analysis, immunity and autoimmunity examinations were either negative or normal. The only notable result was the patient's inability to reduce nitroblue tetrazolium (activity 0%). The patient was diagnosed as a carrier of chronic granulomatous disease and treatment based on antibiotic prophylaxis with cotrimoxazole was initiated; skin infections were treated with antiseptic soaps. Subsequent evolution has been favourable, with the gradual resolution and granulation of old lesions and without cutaneous relapses.
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PMID:Chronic granulomatous disease: a case study of a symptomatic carrier. 909 36

In patients with systemic lupus erythematosus (SLE) and concomitant Coombs positive autoimmune haemolytic anaemia (AIHA) anticardiolipin antibodies (aCL) are found more frequently and at higher titres than in SLE patients without AIHA. In order to assess if aCL elevation is primarily associated with the underlying SLE, or with AIHA itself, we examined AIHA patients with and without underlying SLE for the presence of aCL. aCL (IgG and IgM) were determined by ELISA in 74 SLE patients without AIHA, 22 SLE patients with AIHA, 50 patients with idiopathic AIHA (warm-reactive autoantibodies), 52 patients with idiopathic AIHA (cold-reactive autoantibodies) and 50 healthy controls. The mean IgG and IgM aCL titres in SLE patients without AIHA (IgG 37.0 U/ml, IgM 8.9 U/ml) were significantly elevated compared with the values in healthy controls (IgG 9.1 U/ml, IgM 3.2 U/ml; P < 0.005). The mean aCL levels in SLE patients with AIHA (IgG 53.2 U/ml, IgM 28.2 U/ml) were higher than in SLE patients without AIHA (P = 0.09 for IgG, P < 0.005 for IgM). Interestingly, the mean aCL levels of patients with idiopathic AIHA (warm-reactive autoantibody type: IgG 29.2 U/ml, IgM 19.3 U/ml; cold-reactive autoantibody type: IgG 27.4 U/ml, IgM 18.9 U/ml) were also significantly elevated compared with healthy controls P < 0.001). As aCL are elevated not only in SLE (with and without concomitant AIHA) but also in idiopathic AIHA it can be speculated that aCL are involved in the pathomechanism of autoantibody-induced erythrocyte destruction per se irrespective of an underlying SLE.
Lupus 1997
PMID:Elevated anticardiolipin antibodies in autoimmune haemolytic anaemia irrespective of underlying systemic lupus erythematosus. 936 24

The clinical features of patients with splenic marginal zone cell lymphoma (SMZCL) have rarely been reported. In the present study, immunological abnormalities, particularly hematological abnormalities, observed in SMZCL were described. Autoimmune hemolytic anemia, immune thrombocytopenia, and appearance of lupus anticoagulant were observed in 2 of 3 patients with SMZCL. Other abnormal data including monoclonal gammopathy and cold agglutinin were also observed in 2 of the 3 patients. Immunological abnormalities may be characteristic complications in patients with SMZCL and must be followed carefully, since they may be a reliable marker of this type of lymphoma activity.
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PMID:Immunological abnormalities in splenic marginal zone cell lymphoma. 937 30

Chilblain lupus erythematosus (CL) of Hutchinson is a subtype of lupus erythematosus (LE) characterized by erythematous lesions induced by cold, damp climates. A number of patients affected by CL eventually develop features of systemic lupus erythematosus (SLE). We report here 9 patients with chilblain cutaneous lesions, 6 of them were affected by SLE and 2 by SCLE. The onset of CL preceded the diagnosis of LE, from 1 to 10 years in 3 cases, it was concurrent in one case and was subsequent in the remaining 4 cases. Raynaud's phenomenon and photosensitivity were other prominent clinical features in patients with CL. Nailfold capillaroscopy revealed pathological changes in every patient examined. ANA and anti-SSA/Ro antibodies were detected in all nine patients. Anti-SSB/La were detected in 2 cases, anti-Sm in one case, and anti-Sm and anti-RNP in a one case. Antibodies to dsDNA and complement consumption were found in the six patients with SLE. The fine specificity of anti-SSA/Ro was determined by immunoblotting: anti-60kD and anti-52 kD were detected in three sera, anti-60kD alone in 5 sera, while one serum did not blot. In conclusion, the present study suggests that chilblain LE is associated with SSA/Ro autoantibodies, as is SCLE, hypergammaglobulinemic purpura and neonatal lupus erythematosus.
Lupus 1999
PMID:Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. 1034 14

Chillblain Lupus Erythematosus (CL) of Hutchinson is a subtype of Lupus Erythematosus characterized by erythematous lesions symmetrically distributed on the face, nose, fingers and toes, knees and heels. The lesions are induced by cold, damp climates. A number of patients affected by CL eventually develop features of Systemic Lupus Erythematosus (SLE). We report here 7 patients, all but one affected by SLE, with chilblain cutaneous lesions on their hands, feet and face. The onset of CL preceded the diagnosis of SLE, from 1 to 10 years in 3 cases, it was concurrent in one case and was subsequent in the other 2 cases. Six out of the seven patients referred typical Raynaud's phenomenon and one had acrocyanosis. CL lesions developed and were aggravated by the cold during autumn and winter, they improved during summer. Skin biopsy performed in 5 patients from the lesions showed, on histology, a typical pattern of alterations with granular deposits at the dermo-epidermal junction on direct immunofluorescence. Laboratory findings showed: ANA and anti-SSA/Ro were detected in all the patients, anti-SSA/Ro were isolated in 4 patients and associated with anti-Sm in one case, anti-U1 RNP in one case and with anti-Sm and anti-RNP in a third case. Complement consumption was observed in 5 patients, anti-dsDNA in the six patients with SLE, hypergammaglobulinemia in 4 and rheumatoid factor in one. The fine specificity of anti-SSA/Ro as determined by immunoblotting using a human spleen extract as a substrate, showed: anti-60kD and anti-52 kD in two sera, anti-60kD isolated in 2 sera, anti-52kD isolated in one serum (from the patient without SLE) while 2 sera did not blotted. In conclusion, our study confirms the previous report of anti-SSA/Ro antibodies in association with CL. This clinical and serologic association widens the spectrum of cutaneous disease that is associated with antibodies to SSA/Ro to include conditions such as to SCLE, hypergammaglobulinemic purpura and neonatal lupus.
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PMID:Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. 1059 39

The appearance of vasospastic features in the central nervous system (CNS) after a cold stressor test was Investigated through single photon emission computed tomography (SPECT) of regional cerebral blood flow in patients with systemic lupus erythematosus, with and without Raynaud's syndrome, and in scleroderma patients. We have shown that Raynaud's syndrome may occur in the CNS and that anticardiolipin or lupus anticoagulant positivity may favour perfusion defects.
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PMID:Changes in regional cerebral blood flow after a cold hand test in systemic lupus erythematosus patients with Raynaud's syndrome. 1074 19

A 57-year-old woman was under treatment for epilepsy with lamotrigine 2 mg/kg/d since 1996. In April 1998 she was admitted to the Rheumatology Unit for arthralgias affecting the small joints of the hands, wrists and knees, erythematosus skin rash and myalgias. She referred a vascular abnormality at the hands exposed to cold, compatible with Raynaud's phenomenon. Serum antinuclear antibodies (ANA) were positive (1:320, speckled pattern); moreover, a positivity for anti-Ro/SSA was observed. Rheumatoid factor was negative, serum complement was normal. LAC and anticardiolipin antibodies were negative. Drug-related lupus diagnosis was made with resolution of symptoms and gradual normalisation of positivity of ANA and anti-Ro/SSA upon lamotrigine withdrawal. To our knowledge, this is the first case report of an association between lamotrigine and the onset of SLE (systemic lupus erythematosus).
Lupus 2000
PMID:Lamotrigine-induced lupus. 1103 25


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