Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eosinophilic fasciitis is a rare connective tissue disease in children characterized by hardening and thickening of the skin and soft tissues, peripheral eosinophilia, elevated erythrocyte sedimentation rate, and hypergammaglobulinemia. In this study, we report three pediatric patients with eosinophilic fasciitis whose clinical presentation and response to therapy differed from those reported in the literature. All three patients were female. Two of them had Raynaud's phenomenon as an initial feature, and the third had hepatosplenomegaly. Muscle involvement with weakness was present in two patients, as documented not only by increased aldolase levels at the time of presentation but also by inflammatory changes in the muscle biopsy. Serum immunoglobulin G levels were increased only in the most severely involved patient. Peripheral eosinophilia was present in all three cases. All three patients responded well to prednisone therapy. Two patients had a uni-phasic course, and one required further therapy to control a postinfection relapse. In summary, we found that Raynaud's phenomenon and hepatosplenomegaly can be part of the spectrum of clinical manifestations of childhood eosinophilic fasciitis. Identification as eosinophilic fasciitis and not scleroderma, despite hand involvement and Raynaud's phenomenon, can suggest that the illness may be steroid responsive.
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PMID:Faces of eosinophilic fasciitis in childhood. 1704 31

Case 1. A 23-year-old white housewife presented with an erythematous violaceous rash on her face, neck, chest, and limbs, particularly over the dorsum of the hands and fingers; diffuse alopecia; and an inability to climb stairs and get up from a low seat. The clinical examination showed red to violaceous well-demarcated plaques on sun-exposed areas on the dorsum of the fingers and hands, with periungual erythema and telangiectasia; facial erythema; and heliotrope rash. There was also symmetric involvement of proximal muscles of the limbs. Laboratory examination showed hypergammaglobulinemia, elevated serum aspartate aminotransferase, and serum alanine aminotransferase; normal activities of creatinokinase, lactate dehydrogenase, and aldolase; an antinuclear antibody titer of 1:40 with a speckled pattern; negative anti-DNA and anti-Scl70; and normal serum complement levels (C3, C4, and CH50). Urinalysis results were within normal limits. Skin biopsy histopathology showed hyperkeratosis, edema of the upper epidermis, scattered inflammatory infiltrate, and focal accumulation of mucin in the form of acid mucopolysaccharides. Deep asymptomatic nodules on the inner upper limbs appeared later. Histopathology of these lesions showed focal areas of lobular panniculitis in the subcutaneous tissue, with lymphoplasmocytic inflammatory infiltrate without vasculitis (Figure 1 and Figure 2). Case 2. A 29-year-old white housewife presented with an erythematous violaceous rash on her face, neck, chest, and lower extremities. Clinical examination showed red to violaceous well-demarcated aching plaques on the internal surface of the thighs and tips of the fingers; periungual erythema and digital petechiae; Raynaud's phenomenon; and bilateral ulnar and cervical enlarged lymph nodes. Laboratory examination showed elevated serum aspartate aminotransferase, alanine aminotransferase, creatinokinase, lactate dehydrogenase, and aldolase; negative venereal disease research test results; an antinuclear antibody titer of 1:1024 with speckled pattern; negative anti-DNA and anti-Scl70; and normal serum complement levels (C3, C4, and CH50). Urinalysis results were within normal limits. Histopathology of the deep asymptomatic nodule on the inner left thigh showed lobular panniculitis with a scattered inflammatory infiltrate and diffuse fat necrosis, in addition to calcium deposition between the lipocytes and microcysts without vasculitis (Figure 3).
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PMID:Dermatomyositis with panniculitis. 1721 24

A 35-year-old man suffered from myalgia and joint pain on walking for 5 months. Physical and neurological examinations revealed dermal sclerosis, skin swelling, redness of forearms, Raynaud's phenomenon, joint pain, myalgia and muscle weakness. Eosinophilia was not found and serum creatine kinase activity was normal, while aldolase was markedly elevated. Abnormal signals suggesting synovitis and myofasciitis were found on MRI images. Biopsy of the fascia of quadriceps femoris showed perivascular mononuclear cell infiltration. A muscle biopsy showed mononuclear cell infiltration mainly in the perimysium extending to the endmysium. Eosinophilic cells were not found, Perifascicular atrophy was observed. Corticosteroid therapy improved clinical symptoms and serum aldolase level. We diagnosed him as non-eosinophilic myofasciitis and synovitis with perifascicular atrophy. The serum aldolase activity is usuful for diagnosis and for monitoring the disease activity.
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PMID:[Elevated serum aldolase activity in a patient of non-eosinophilic myofasciitis and synovitis with perifascicular atrophy]. 1934 78

The optimal training model for patients with systemic sclerosis (SSc) is unknown. In this study, we aimed to investigate the effects of a 12-week combined resistance and aerobic training program (concurrent training) in SSc patients. Eleven patients with no evidence of pulmonary involvement were recruited for the exercise program. Lower and upper limb dynamic strengths (assessed by 1 repetition maximum [1RM] of a leg press and bench press, respectively), isometric strength (assessed by back pull and handgrip tests), balance and mobility (assessed by the timed up-and-go test), muscle function (assessed by the timed-stands test), Rodnan score, digital ulcers, Rayland's phenomenon, and blood markers of muscle inflammation (creatine kinase and aldolase) were assessed at baseline and after the 12-week program. Exercise training significantly enhanced the 1RM leg press (41%) and 1RM bench press (13%) values and back pull (24%) and handgrip strength (11%). Muscle function was also improved (15%), but balance and mobility were not significantly changed. The time-to-exhaustion was increased (46.5%, p = 0.0004), the heart rate at rest condition was significantly reduced, and the workload and time of exercise at ventilatory thresholds and peak of exercise were increased. However, maximal and submaximal &OV0312;o2 were unaltered (p > 0.05). The Rodnan score was unchanged, and muscle enzymes remained within normal levels. No change was observed in digital ulcers and Raynaud's phenomenon. This is the first study to demonstrate that a 12-week concurrent training program is safe and substantially improves muscle strength, function, and aerobic capacity in SSc patients.
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PMID:Efficacy and safety of concurrent training in systemic sclerosis. 2111 2