Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024312 (lymphopenia)
 4,859 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Schimke immuno-osseous dysplasia (OMIM *242900) is a rare autosomal recessive disorder that affects primarily the bone, the immune system, the kidneys, the skin and the vascular system. The patients have intrauterine growth retardation, short stature with short neck and trunk, peculiar clinical phenotype: triangular face, broad nasal bridge, bulbous nasal tip, small palpebral fissures, long upper lip and low hairline. The characteristic features include spondyloepiphyseal dysplasia, hyperpigmented maculae, proteinuria with progressive renal failure, lymphopenia with recurrent infections and cerebral ischaemia. We describe a girl, 5 years old, with short-trunk type of dwarfism (height 75 cm, below 3rd centile), short neck, accentuated lumbal lordosis and protruding abdomen. The patient had peculiar face with a broad, depressed nasal bridge, bulbous nasal tip, and slightly elongated upper lip. The hair was thin and sparse. Numerous pigmented spots resembling lentigines were visible on the trunk and abdomen. Radiographs showed spondyloepiphyseal dysplasia. At the age of 2 years laboratory analyses showed normal growth hormone secretion, normal thyroid function tests, normal female karyotype and no mucopolisachariduria. Since the age of 4 years, several episodes of transitory right-sided hemiparesis with spontaneous recovery, were observed. Seizures occurred at 5 years of age, when the MRI brain imaging showed multiple areas of ischaemia. She also experienced transient nephrotic syndrome, lymphopenia and low IgG accompanied by septicaemia.
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PMID:[Schimke immuno-osseous dysplasia]. 1563 95

Leptospirosis has a highly variable clinical presentation, which may be related to different infecting serovars, host factors, or a combination of these. This study investigated retrospectively 34 consecutive patients with serologically confirmed leptospirosis admitted during the period 1992-2002. On admission, the most frequent symptoms were fever (100%), headache (75%), myalgia (55%), arthralgia (45%) and vomiting (39%). Pertinent laboratory findings included lymphopenia (85%), thrombocytopenia (75%), elevated liver enzymes (87%) and renal abnormalities (proteinuria, 77%; haematuria, 58%; elevated serum creatinine, 53%). The study confirmed the variable clinical and biological symptoms of leptospirosis, and indicated that lymphopenia is a common feature of leptospirosis cases.
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PMID:Clinical presentation of leptospirosis: a retrospective study of 34 patients admitted to a single institution in metropolitan France. 1615 67

We retrospectively reviewed 34 consecutive patients with serologically confirmed leptospirosis admitted during years 1992-2002. Nine patients (26.5%) had respiratory symptoms on admission including cough (n = 4), shortness of breath (n = 4), cyanosis (n = 2), and hemoptysis (n = 1). Six patients had pulmonary radiographic findings including (1) diffuse, ill-defined, ground-glass density (n = 3); (2) diffuse alveolar opacities (n = 2); and (3) small nodular density (n = 1). Male/female ratio was 8/1 and mean age was 47 years. Seven patients reported their exposure source including hunting (n = 2), fishing (n = 2), fresh water swimming (n = 2), and canoeing (n = 1). All patients had fever (mean = 40.1 degrees C). Other common symptoms were headache (n = 4), vomiting (n = 3), and myalgia (n = 3). Biological abnormalities included elevated liver enzymes (n = 8), proteinuria (n = 7), lymphopenia (n = 6), hematuria (n = 5), renal failure (n = 4), anemia (n = 4), and elevated neutrophil count (n = 4). PaO(2 )was measured for 3 patients while they were breathing room air (32, 55, and 66 mmHg). Suspected diagnosis on admission included leptospirosis (n = 2), bacterial pneumonia (n = 2), intoxication, influenza, viral hepatitis, biliary tract lithiasis, and rapidly progressive glomerulonephritis (one patient each). The first serologic testing for leptospirosis was positive for 5 patients (55%). Serovar was presumptively identified for 7 patients: Australis (n = 3), Grippotyphosa (n = 2), and Icterohaemorrhagiae (n = 2). Seven patients were treated with penicillin; two patients received no antibiotics. All patients were cured. In conclusion, patients with leptospirosis may present predominantly with nonspecific pulmonary symptoms. In these patients, leptospirosis must be suspected when there is a potential exposure to rats, especially in case of high-grade fever, myalgia, hepatitis, and renal abnormalities.
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PMID:Respiratory manifestations of leptospirosis: a retrospective study. 1621 64

A 43-year-old Japanese woman was referred to our hospital in 1997 because of Raynaud's phenomenon. Systemic lupus erythematosus was diagnosed on the basis of the presence of antinuclear antibody (1:1,280), anti-DNA antibody (1:640), anti-Sm antibody, antiphospholipid antibody, lymphopenia, and proteinuria. She developed pulmonary fibrosis in 1999 and pulmonary hypertension in 2001. In October 2002, a 24-hr continuous infusion of epoprostenol was started. Dyspnea, Raynaud's phenomenon, and pulmonary hypertension improved with low-dose epoprostenol (3.0 to 4.0 ng kg(-1) min(-1)). The patient could not tolerate larger doses of epoprostenol so 4.0 ng kg(-1) min(-1) was selected as the maintenance dose. The clinical course was uneventful at this dosage. It appears that pulmonary hypertension can be controlled with low-dose epoprostenol such as 3.0 to 4.0 ng kg(-1) min(-1) in some rheumatic patients.
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PMID:Low-dose epoprostenol improved pulmonary hypertension in a patient with systemic lupus erythematosus. 1639 88

The association of systemic lupus erythematosus (SLE) with idiopathic polymyositis or dermatomyositis is reported to occur in the range of 4-16%. Myositis can occur before or after SLE, or sporadically both diseases can be present simultaneously. This case report concerns a 36-year-old female patient suffering from Raynaud's phenomenon, polyarthralgia in the small joints of the hands, and skin changes compatible with Gotron's indications. Symmetric proximal muscle weakness of the extremities, fever of up to 40 degrees C, heliotrope rashes with erythematous changes in the face, upper arms, and posterior shoulders occurred subsequently. Laboratory analyses revealed increased acute phase reactants, hypochromic anaemia, lymphopenia, and increased levels of all muscle enzymes. Immunoserology demonstrated positive ANA, anti-Sm, and anticardiolipin antibodies (aCL), while anti dsDNA, anti Ro, anti La, and anti Jo-1 antibodies proved negative. Hypocomplementaemia and elevated levels of immune complexes were also detected. Pathologic sediment and proteinuria were revealed via urine analyses, while a kidney biopsy confirmed lupus nephritis (type IVa according to the World Health Organisation classification). Biopsy of erythematous changes of the posterior shoulder demonstrated leukocytoclastic vasculitis. Electromyography of the lower extremities established myopathic changes. Inflammation of the muscles was confirmed via magnetic resonance imaging. The patient was categorised as having two separate coexistent diseases--SLE and dermatomyositis. Both the classification criteria of the American College of Rheumatology for SLE and the diagnostic criteria for dermatomyositis, proposed by Bohon and Peter, were fulfilled simultaneously. Treatment commenced with pulses of methylprednisolone and continued with oral therapy, including Resochin. Pulses of intravenous cyclophosphamide were also administered. After six weeks of therapy, biohumoral remission of both diseases was achieved, while complete recovery from muscle weakness was accomplished after four months.
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PMID:[Systemic lupus erythematosus and dermatomyositis--case report]. 1653 99

A 5-year-old Shetland Sheepdog was presented with a history of weakness, ataxia, anemia, thrombocytopenia, and occasional seizures. The dog had been treated for 6 months with prednisone for inflammatory bowel disease. A positive titer for Ehrlichia canis was detected 6 months before referral. The initial physical examination revealed a weak, laterally recumbent dog with pale mucous membranes. Neurologic examination revealed multiple neurologic deficits. A complete blood cell count (CBC) revealed normochromic, normocytic, nonregenerative anemia; lymphopenia; thrombocytopenia; and neutrophilic and monocytic leukocytosis. Urinalysis revealed proteinuria, with a specific gravity of 1.045. The dog was unresponsive to treatment and died. At necropsy, there was severe serofibrinous peritonitis and pleuritis, with randomly scattered dark brown necrotic foci present in multiple organs, including liver, spleen, kidney, and pancreatic lymph node. Histologically, there were extensive regions of parenchymal necrosis surrounded by neutrophils admixed with epithelioid macrophages, lymphocytes, and pigmented fungal organisms. Numerous brown, 2 to 6 microm in diameter, septate, branching hyphae, subsequently identified as Ochroconis gallopavum (formerly Dactylaria constricta var. gallopava), were observed.
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PMID:Fatal systemic phaeohyphomycosis caused by Ochroconis gallopavum in a dog (Canis familaris). 1709 56

Fatal cytauxzoonosis is described in a captive reared lioness (Panthera leo) and its 6-month-old cub. Clinical signs in the lioness included loss of weight, depression, anaemia, loss of hair, dark discolored urine, tachypnoea, nystagmus, deaphness and staggering gait. The cub died after a short period of depression. In the lioness, laboratory examination revealed normochromic normocytic anaemia, neutrophilia, lymphopenia, monocytosis, eosinopenia, thrombocytopenia, proteinuria, pyuria, haematuria and increased. At necropsy the lioness showed marked pulmonary edema and slight gelatinous translucent edema in the mediastinum, petechiae and echymosis disseminated in the serosae, and the intestinal content was red and semiliquid. The cub presented hemothorax, endocardial and pulmonary edema, petechiae in the cardiac serosae, hepatic and splenic congestion and segments of the small intestine with blood stained fluid contents and reddish mesenteric lymph nodes. Histopathological examination of liver, spleen, heart, lungs, intestines, pancreas, mesenteric lymph nodes, kidneys, skeletal muscle, brain and skin revealed large number of intravascular macrophages with their cytoplasm filled with various schizogonic stages of a Theileriidae. Electron microscopy confirmed the presence of schizonts in endothelial-associated macrophages. The diagnosis was established by the finding of the pathognomonic schizonts in macrophages within blood vessels in several organs and tissues from both lions. This is the first report of feline cytauxzoonosis in P. leo and of a confirmed infection by Cytauxzoon felis in felidae in South America.
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PMID:Fatal cytauxzoonosis in captive-reared lions in Brazil. 1730 59

Systemic lupus erythematosus is a chronic autoimmune disease that can be associated with a variety of haematological manifestations. We identified 76 patients with haemolytic anaemia in a cohort of 1251 unrelated female lupus patients enrolled in our studies. The presence of the various American College of Rheumatology clinical criteria for lupus and serological specificities were determined in lupus patients with haemolytic anaemia and compared with a group of race-matched control lupus patients without haemolytic anaemia. Clinical data were obtained from medical records, and serological specificities were determined in our clinical immunology laboratory at OMRF. The presence of haemolytic anaemia in lupus patients was associated with a higher frequency of proteinuria (OR = 2.70, P = 0.000031), urinary cellular casts (OR = 2.83, P = 0.000062), seizures (OR = 2.96, P = 0.00024), pericarditis (OR = 2.21, P = 0.0019), pleuritis (OR = 1.72, P = 0.028) and lymphopenia (OR = 1.79, P = 0.015). These findings were independent of the presence of thrombocytopenia, which was approximately five times more common in lupus patients with haemolytic anaemia. Lupus patients with haemolytic anaemia were about 8 years younger than lupus patients without haemolytic anaemia at the time of disease onset (P = 0.000001). In the absence of thrombocytopenia, lupus patients with haemolytic anaemia were approximately two times more likely to have anti-dsDNA antibodies (P = 0.024). The presence of haemolytic anaemia is associated with a subset of lupus characterized by a younger age of disease onset, and a more severe disease with a higher likelihood of renal involvement, seizures, serositis and other cytopenias.
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PMID:Haemolytic anaemia in a multi-ethnic cohort of lupus patients: a clinical and serological perspective. 1862 52

Systemic lupus erythematosus (SLE) is a typical autoimmune disease that's characterized by various autoantibodies to nuclear and cytoplasmic antigens. The presence of antinuclear antibodies (ANA) in serum is generally considered a decisive diagnostic sign of SLE. However, a small subset of SLE patients who had the typical clinical features of SLE was reported to show persistently negative ANA tests. Our report describes a 16-yr-old female who presented with the clinical manifestations of SLE such as malar rash, photosensitivity, arthritis, lymphopenia, pericarditis and proteinuria. The serum autoantibodies were all negative and renal biopsy showed that the histopathological changes of immune complex mediated the focal segmental necrotizing glomerulonephritis with crescent formation. She was treated with monthly pulse cyclophosphamide along with corticosteroids. During the 2-yr follow-up period, the proteinuria was markedly decreased and all of the ANA and anti-double stranded DNA antibody tests were negative. This case suggests that ANA may not be required in the pathogenesis of lupus nephritis.
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PMID:An antinuclear antibody-negative patient with lupus nephritis. 1927 Apr 87

We described a 30-year-old pregnant woman developing antinuclear antibodies (ANA)-negative systemic lupus erythematosus (SLE) accompanied with arthritis, malar rash, lymphopenia, autoimmune hemolytic anemia, pericardial and pleural effusion, proteinuria and seizures. All serum autoantibodies except anti-Ro antibody were negative. An artificially induced abortion was performed to prevent SLE deterioration. Steroid and cyclophosphamide therapy were effective for this patient. During the 2-year follow-up period, her ANA and other SLE-related autoantibodies in serum remained negative. This case suggests that ANA may not be required in the pathogenesis of SLE, even in the case with pregnancy, and ANA-negative SLE may also have a dangerous clinical course.
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PMID:Antinuclear antibody-negative systemic lupus erythematosus in a case with pregnancy. 2038 13


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