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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A cohort study was undertaken of 18 consecutive pregnancies in 16 patients with systemic lupus erythematosus without significant renal impairment. Of these, eight each had at least two previously unexplained pregnancy failures, 10 had elevated anticardiolipin antibodies, nine had the lupus anticoagulant and five had antibodies to Ro. Twelve live births resulted but a Downs syndrome baby died in the perinatal period. Fetal morbidity was confined to four cases of fetal growth retardation, all in mothers positive for anticardiolipin antibodies, and fetal distress in another two. There were no cases of the neonatal lupus syndrome. There was one maternal death. An obstetric history of at least two previously unexplained pregnancy failures and the presence of maternal anticardiolipin or anti-Ro antibodies accurately predicted fetal loss in six of seven cases. No other serological risk factors for fetal loss were identified. We were unable to show that suppression of antibodies in those mothers with at least two previously unexplained pregnancy failures improved fetal outcome.
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PMID:Pregnancy and lupus: prognostic indicators and response to treatment. 317 25

The clinical, hematologic, and cytogenetic findings are described in a patient who developed clinical and hematologic features of acute myelogenous leukemia (AML) after a three-year period of observation with unexplained thrombocytopenia. Five months before the diagnosis of AML she developed hepatosplenomegaly and a lupus-like syndrome. At this time she was also found to have trisomy 21 in all bone marrow cells studied, in addition to trisomy 8 in a few cells. The finding of trisomy 21 in all of the bone marrow cells examined could reflect a nonrandom alteration in the leukemic stem line or it might indicate that mosaic patients with trisomy 21 cells in their bone marrow share the increased risk of AML that has been documented for trisomy 21 patients.
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PMID:Trisomy 21 in bone marrow cells of a patient with a prolonged preleukemic phase. 693 5

Moyamoya disease is characterized by bilateral involvement of the internal carotid arteries. The etiology of this involvement is unknown. However, we previously reported two pediatric cases of moyamoya disease that progressed from unilateral to bilateral involvement. Some cases of unilateral occlusion in the carotid fork seem to have occurred at an early stage of definite moyamoya disease. In the present study, we examined five pediatric patients showing bilateral and/or unilateral occlusion of the internal carotid artery. In each case, the etiology was known. They included Apert syndrome, radiation therapy for pilocytic astrocytoma, systemic lupus erythematosis, von Recklinghausen disease and Down syndrome. The clinical manifestations, EEG, CT, MRI, PET, and angiographic findings in these patients were presented in comparison with those of definite moyamoya disease. This comparison led us to suggest that definite moyamoya disease might be included in these cases, and we emphasize the importance of precise examination in each case.
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PMID:[Akin moyamoya disease in children]. 842 89

An association is described between women with lupus anticoagulant and abnormal prenatal serum screening results. Three cases of positive second-trimester serum screening for Down syndrome, with karyotypically normal fetuses, in women demonstrated to have lupus anticoagulant are presented. Serum screening positivity was principally due to a disproportionately elevated maternal serum human chorionic gonadotrophin (hCG) level. In each case, early, severe intrauterine growth restriction was documented, with only one fetus surviving the neonatal period. As maternal lupus anticoagulant may have a profoundly adverse effect on the course of pregnancy, we suggest that an elevated hCG level on prenatal screening prompt consideration of maternal lupus anticoagulant testing if ultrasonography demonstrates an otherwise normal singleton gestation and the fetal karyotype is normal.
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PMID:Elevated mid-trimester hCG and maternal lupus anticoagulant. 860 82

Our study describes the presence of antineutrophil cytoplasmic antibodies (ANCA) in a group of different pathologies comprising 101 patients. Rheumatoid arthritis, systemic lupus erithematosus, idiopatic neutropenia, acute post-streptoccocal glomerulonephritis, minimal change nephrotic syndrome, Downs syndrome, adult periodontitis, tumoral calcinosis, monoartheritis and lipodystrophy were investigated for ANCA, through indirect immunofluorescence and an indirect solid-phase immunoassay (ELISA). Our results show the pattern of distribution of ANCA in the diseases investigated, and allowed us to make the first description of ANCA in diseases such as Downs syndrome, acute post-streptococcal glomerulonephritis and adult periodontitis. The high percentage of reactivity for ANCA detected in adult periodontitis, raise important questions about the possibility of reporting inaccurate percentages of positivity for some diseases, due to the presence of a concurrent disease such as adult periodontitis.
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PMID:[Antineutrophil cytoplasmic antibodies (ANCA): study of their presence in diseases not associated with arteritis]. 871 20

Elastosis perforans serpiginosa can arise as a rare complication in patients with Down syndrome. It is one of the primary perforating disorders characterized by transepithelial elimination of abnormal elastic fibers. This may reflect an immunological reaction aquist elastic fibers. We describe a 40-year-old woman with Down's syndrome whose skin lesions were histologically mistaken for lupus vulgaris for a long time.
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PMID:[Elastosis perforans serpiginosa in Down syndrome]. 948 66

Two patients with Down syndrome and the primary antiphospholipid antibody are described. One patient had a vasculopathy similar to that previously described as Moyamoya. Down syndrome is characterized by immune defects including a tendency to autoimmune phenomena. This report extends the scope of these observations and particularly draws out the potential role of antiphospholipid antibodies. Indeed antiphospholipid antibodies may well explain the well-known association of Down syndrome and stroke.
Lupus 2003
PMID:Antiphospholipid antibodies and stroke in Down syndrome. 1258 28

We report a patient with Down syndrome, under treatment with carbamazepine, levopromazine and clonazepam. After urinary infection he developed glans necrosis requiring excision of prepuce. Six hours post surgery he presented right-hand ischemia followed by arterial and venous thrombosis of the right thoracic extremity. Later, he progressed to a compartment syndrome and presented ischemia of toes. All the clinical manifestations developed over a week. Anticardiolipin (aCL) antibodies, lupus anticoagulant and perinuclear antineutrophil antibodies were positive. Anticoagulant and immunosuppressive treatment were initiated. Owing to the failure of both treatments, the patient underwent amputation of right hand and a toe. Histopathology revealed recent and old thrombosis of medium- and small-sized vessels without vasculitis. Diagnosis of catastrophic antiphospholipid syndrome (CAPS) was made. At present, the patient continues on oral anticoagulants, IgG aCL remains positive, and no further episodes of thromboses have been observed after 4 years of follow-up. To our knowledge, this is the first case of CAPS in a patient with Down syndrome.
Lupus 2009 Oct
PMID:Catastrophic antiphospholipid syndrome in a patient with Down syndrome. 1976 87

Patients with Down syndrome are more susceptible to autoimmune pathologies, in particular endocrine or digestive diseases such as celiac disease. Autoimmune enteropathy is another form of digestive autoimmune disease, non-gluten-dependant, more often diagnosed in male neonates with immunodysregulation and polyendocrinopathy such as the Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. It also exists in the adult, but this pathology is less known and therefore frequently under-diagnosed. Clinical manifestations are similar to celiac disease, but not improved after a gluten-free diet. Autoimmune enteropathy is frequently associated with other autoimmune diseases, such as thyroiditis, myasthenia gravis, lupus or immune deficiencies, as Common Variable Immunodeficiency. Pathological analysis of intestinal biopsies can frequently distinguish autoimmune enteropathy and celiac disease. Autoimmune enteropathy usually has an important lymphoplasmacytic infiltration of the mucosa and a lack of intraepithelial lymphocytes in the gastrointestinal mucosal surface, while celiac disease usually has a polymorph infiltration of the mucosa and an important intraepithelial lymphocytes infiltration. Nevertheless, the two pathological patterns may overlap. Here we report the first case of a patient with Down syndrome associated to autoimmune enteropathy (initially diagnosed as celiac disease), chronic pancreatitis and cutaneous lupus erythematosus. Even if autoimmune pathologies are much more common in patients with Down syndrome, we would like to report on this rare and original association found in our patient.
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PMID:A Difficult and Rare Diagnosis of Autoimmune Enteropathy in a Patient Affected by Down Syndrome. 2707 57