Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A review of patients presenting at the rheumatology clinic of the Parirenyatwa Hospital, University of Zimbabwe School of Medicine, revealed 14 with HIV infections. Over a 6-month period, 141 patients had been diagnosed with rheumatic diseases, including 49 with rheumatoid arthritis, 18 with systemic lupus erythematosus (SLE), 5 with dermatomyositis and 3 with scleroderma. Rheumatic diseases were thought to be rare in this population, of whom only 0.2% carry the HLA B27 antigen. Recently a marked increase in patients with reactive or Reiter-like illness, the most common arthropathy in HIV+ patients, were referred. These 14 patients, mostly males, all had acute onset arthropathy, 5 with polyarthritis and 9 with oligoarticular diseases, usually of the knees and ankles, usually symmetrical, or asymmetrical in the small peripheral joints. Synovial fluid was negative except for leukocytosis. The duration of the illness was usually 3-6 months. In addition there were 3 HIV+ patients with complete Reiter's and 7 HIV+ with incomplete Reiter's syndrome, out of a total of 16 Reiter's patients. Among the associated symptoms were urethritis, cervicitis, conjunctivitis, balanitis and oral ulceration, but not psoriasis. These patients had elevated sedimentation rates, but otherwise negative blood findings, other than anemia. In contrast 36 patients with rheumatoid arthritis and 12 with SLE were HIV-. 2 HIV patients also had septic arthritis, a common condition in Zimbabwe.
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PMID:Human immunodeficiency virus-related connective tissue diseases: a Zimbabwean perspective. 204 91

4 cases of extramedullary hematopoiesis (EH) in the posterior mediastinum in patients affected with serious chronic anemia are presented. The contribution of conventional radiology and computed tomography (CT) to the assessment of an exact diagnosis, is discussed. The CT images are above all characterized by the presence of typical bilateral, asymmetrical paravertebral hyperdense masses (about 45 HU). Besides, a striated aspect of the vertebral bodies is common. For a rather sure diagnosis of EH in patients with chronic anemia, a conventional chest X-ray and CT of the thorax is sufficient. Biopsy and thoracotomy should be avoided.
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PMID:Thoracic extramedullary hematopoiesis: evaluation by conventional radiology and computed tomography. 706 Apr 37

The clinical and cytogenetic data of the first patient proven to belong to the fifth Fanconi anemia complementation group are described. The Turkish boy presented with psychomotoric retardation, growth retardation, retarded bone age, brachycephaly, hypotelorism, epicanthus, syndactyly, brachydactyly, renal dystopia, and cryptorchism. In addition, an asymmetrical skeletal anomaly was seen with a double distal phalanx of the left thumb and hypoplasia of the right thumb. Typical hematological features of the disorder developed, at the age of 2.5 years, about 1 year after diagnosis. Cytogenetic studies confirmed the clinical diagnosis and revealed a spontaneous chromosomal instability and hypersensitivity to the cross-linking agents diepoxybutane and Trenimon. The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data reported for other patients affected with Fanconi anemia.
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PMID:Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. 914 77

Pregnant women with Plasmodium falciparum infection are at increased risk for complications such as anemia and cerebral malaria. In addition, the infants of these women suffer intrauterine growth retardation (IUGR), low birth weight (LBW), congenital infection, and high infant mortality. Although much has been learned from studies of malaria during human pregnancy, progress has been limited by the lack of a suitable animal model. Nonhuman primates are of particular interest because, other than the armadillo, they are the only animals with a discoidal, villous, hemochorial placenta like that of humans. We have established a model of malaria during human pregnancy by inoculating pregnant rhesus monkeys (Macaca mulatta) with Plasmodium coatneyi (a sequestering parasite) during the first trimester. In our initial experiment, four monkeys were inoculated with a fresh inoculum containing 10(8) viable parasites from an infected donor monkey. All four monkeys became parasitemic seven days postinoculation (PI) and three monkeys aborted 7-10 days PI coincident with high peak parasitemias (41,088-374,325 parasites/mm3). Although abortion is one of the outcomes observed in Plasmodium-infected women, the intent of this study was to examine the effects of Plasmodium infection throughout gestation. Since the rapid onset of high parasitemia may have been responsible for the abortions, a decision was made to reduce the size of the effective inoculum. Six additional pregnant monkeys were inoculated with a frozen isolate taken from the same donor containing 10(6) parasites. These six animals became parasitemic by 14 days PI and, along with monkey E412, carried their infants to term. These seven infants weighed significantly less at term than the infants of uninfected mothers (P = 0.0355). Symmetrical IUGR was detected by ultrasound in one fetus with an LBW of 334 g. Another LBW infant (300 g) had asymmetrical growth retardation, which has been associated with uteroplacental insufficiency and was consistent with the lower placental weights found in infected dams compared with controls (P = 0.0455). The infant with symmetric IUGR died at five days of age, while the other is alive but congenitally infected. The IUGR, LBW, congenital infection, postnatal infant mortality, and early abortions observed in these animals suggest that P. coatneyi in pregnant rhesus monkeys is a valid model of malaria in human pregnancy. This model should provide the opportunity to study questions about malaria in pregnancy that have been difficult to study in humans.
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PMID:Plasmodium coatneyi in the rhesus monkey (Macaca mulatta) as a model of malaria in pregnancy. 971 32

In the recent HEMO study, the most common cause of death in dialyzed patients was ischemic heart disease. In Europe there are regional differences, but the mortality due to cardiovascular disease is also very high. The long-lasting controversy whether the high incidence and prevalence of atherosclerotic manifestations (particularly ischemic heart disease) may be explained by known risk factors, or non-traditional risk factors are also involved seems to be partially solved with the increasing evidence that the latter hypothesis is true. Thus, together with classic risk factors such as hypertension, dyslipidemia and diabetes, other situations such as microinflammation, increased concentration of asymmetrical dimethyl-L-arginine, disturbed phosphate metabolism and anemia may represent important risk factors for accelerated atherosclerosis in dialyzed patients.
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PMID:Atherosclerosis in dialyzed patients. 1473 9

A 54-year-old man of Persian origin presented to our department with a 1-year history of ulcers on the right leg that had been unresponsive to numerous topical treatments, accompanied by lymphedema of the right leg. Medical history included hypergonadotropic hypogonadism, which had not been further investigated. He was treated for 20 years with testosterone IM once monthly, which he stopped a year before the current hospitalization for unclear reasons. The patient reported no congenital lymphedema. Physical examination revealed two deep skin ulcers (Figure 1) on the right leg measuring 10 cm in diameter with raised irregular inflammatory borders and a boggy, necrotic base discharging a purulent hemorrhagic exudate. Bilateral leg pitting edema and right lymphangitis with lymphadenitis were noted. He had low head hair implantment, sparse hair on the body and head, hyperpigmentation on both legs, onychodystrophia of the toenails (mainly the large toe and less prominent on the other toes), which was atrophic lichen-planus-like in appearance and needed no trimming (Figure 2), normal hand nails, oral thrush, and angular cheilitis. Other physical findings were gynecomastia, pectus excavatum, small and firm testicles, long extremities, asymmetrical goiter, systolic murmur 2/6 in left sternal border, and slow and inappropriate behavior. The patient's temperature on admission was 39 degrees C. Blood cultures were negative for bacterial growth. Results of laboratory investigations included hemoglobin (11.2 g/dL), hematocrit (26.8%), normal mean corpuscular volume and mean corpuscular hemoglobin volume, and red blood cell distribution width (16%). Blood smear showed spherocytes, slight hypochromia, anisocytosis, macrocytosis, and microcytosis. Blood chemistry values were taken for iron (4 micro g/dL [normal range 40-150 micro g/dL]), transferrin (193 mg/dL [normal range 220-400 mg/dL]), ferritin (1128 ng/mL [normal range 14-160 ng/mL]), transferrin saturation (1.5% [normal range 20%-55%]), serum folate (within normal limits), and vitamin B12 (within normal limits). Direct Coombs' test equaled positive 2 + IgG. All these values indicated anemia of chronic diseases combined with hemolytic anemia. Further blood work-up tested antinuclear antibody (positive <1:80 homogeneous pattern), rheumatoid factors (143 IU/mL [positive >8.5 IU/mL]), C-reactive protein (286 mg/L [normal range 0-5 mg/L]), anticardiolipin IgM antibody (9.0 monophosphoryl lipid U/mL [normal range 0-7.00 MPL U/mL]) and antithrombin III activity (135% [normal range 74%-114%]). Results of other blood tests were within normal limits or negative, including lupus anticoagulant, beta2 glycoprotein, anticardiolipin IgG Ab, anti-ss DNA Ab, C3, C4, anti-RO, anti-LA, anti-SC-70, anti-SM Ab, P-ANCA, C-ANCA, TSH, FT4, anti-T microsomal, antithyroglobulin, protein C activity, protein S free, cryoglobulins, serum immunoelectrophoresis, VDRL, hepatitis C antibodies, hepatitis B antigen, and human immunodeficiency virus. Endocrinological work-up examined luteinizing hormone (22.9 mIU/mL [normal range for adult men 0.8-6 mIU/mL]), follicle stimulating hormone (49.7 mIU/mL [normal range for adult men 1-11 mIU/mL]), testosterone (0.24 ng/mL [normal range for adult men 2.5-8.0 ng/mL]), bioavailable testosterone (0.02 ng/mL [normal range for adult men >0.6 ng/mL]), and percent bioavailable test (8.1% [normal value >20%]). These results indicate hypergonadotropic hypogonadism. Plasminogen activator inhibitor 1 was 6 U (normal value 5-20 U/mL). Karyotyping performed by G-banding technique revealed a 47 XXY karyotype, which is diagnostic of Klinefelter's syndrome. Doppler ultrasound of the leg ulcers disclosed partial thrombus in the distal right femoral vein. X-rays and bone scan displayed osteomyelitis along the right tibia. Histological examination of a 4-mm punch biopsy from the ulcer border revealed hyperkeratosis, acanthosis, hypergranulosis, and mixed inflammatory infiltrate containing eosinophils compatible with chronic ulcer. Multiple vessels were seen, compatible with a healing process. Direct immunofluorescence of the biopsy revealed granular IgM in the dermo-epidermal junction. Indirect immunofluorescence was negative. Thyroid function tests showed normal thyroid stimulating hormone and free throxine4. Multinodular goiter was seen on thyroid scan and ultrasound. Thyroid fine needle aspiration was compatible with multinodular goiter (normal follicular cells, free colloid, macrophages with pigment). IV treatment with amoxicillin-clavulanic acid 1 g t.i.d. was administered for 2 weeks, with a decrease in temperature and normalization of the leukocyte level. Oral antibiotic treatment with amoxicillin-clavulanic acid was continued for 10 more days, followed by 25 days of ciprofloxacin for the osteomyelitis. Local treatment included saline soakings followed by application of Promogran (Johnson & Johnson, New Brunswick, NJ) and Kaltostat (ConvaTec Ltd., a Bristol-Myers Squibb Company, New York, NY) with slight improvement. At the same time, the patient was treated with warfarin sodium due to deep vein thrombosis under international normalized ratio 2-3. The patient was treated with IM testosterone once monthly for 1 year, which resulted in a reduction in the diameter and depth of the leg ulcers (Figure 3). Blood tests were not performed for follow-up of the immune state.
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PMID:Klinefelter's syndrome presenting with leg ulcers. 1536 65

The risk of developing cardiovascular disease is greatly increased in patients undergoing renal replacement therapy and, notably, morbidity and mortality due to therapy is much higher in these patients than in the general population. Minimal alterations in renal function, as evidenced by reduced glomerular filtration rate and the presence of albuminuria, have been described as potent cardiovascular risk factors. The classic risk factors only partly explain this difference; hence, we must admit the existence of known and emerging factors associated with increased cardiovascular risk in patients with renal disease. This article provides a review of these factors. It describes the role of hyperphosphoremia and elevated calcium-phosphorous product in the formation of cardiovascular calcifications, the contribution of anemia to left ventricular hypertrophy, and the consequences of accelerated atherogenesis with oxidative stress and a microinflammatory state resulting from endothelial dysfunction. Hyperhomocysteinemia, increased sympathetic nervous system activity, lipoprotein alterations with elevated lipoprotein A, and increases in the concentrations of asymmetrical dimethyl-arginine are other examples of the changes described in this population. Patients with renal disease should be considered to be at high risk for developing cardiovascular disease and candidates for implementation of secondary prevention strategies. It is for this reason that early identification of renal failure, which remains hidden in many cases, is of prime importance.
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PMID:Chronic renal failure: a cardiovascular risk factor. 1633 73

Several observations imply that atypical rheumatic manifestations may be associated with occult neoplasia. A 71-year-old woman was admitted to the hospital three times in 2 years. Initially, she was admitted for investigation of an iron-deficient anemia associated with upper intestinal tract symptoms. Endoscopy revealed hiatus hernia, esophagitis, and duodenal ulcer with a Helicobacter pylori infection, but there were no signs of malignancy, and the patient received appropriate drug treatment. Two years later, she presented with arthralgias concerning the upper and lower limbs in an asymmetrical distribution, low fever, and persistence of the anemia, despite the treatment she had received and the fact that her gastrointestinal symptoms had long ceased. Immunological assays showed no specific rheumatic disorder, and the patient was discharged after showing significant improvement with the use of COX-2 selective NSAIDs. Finally, 4 months later, she was readmitted with worsening of the arthralgias, arthritis in the right radiocarpal joint, and severe anemia. Hematemesis that occurred during her hospital stay led to an emergency endoscopy and the diagnosis of gastric adenocarcinoma. Only a few cases have been reported so far concerning rheumatic manifestations as signs of an occult gastric cancer. Thus, there must be some degree of suspicion when dealing with patients with anemia and rheumatic symptoms that cannot be classified into a particular rheumatologic entity, because they might conceal a gastrointestinal malignancy not yet evident.
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PMID:Rheumatic-like syndrome as a symptom of underlying gastric cancer. 1657 85

Paraneoplastic syndrome is defined as tumor-associated symptoms and signs not related to the physical effects of primary or metastatic tumors. The mechanisms of this syndrome include the production of bioactive soluble factors by tumor cells and autoimmune diseases elicited by the immune responses against tumors. Production of bioactive soluble factors causes endocrinologic symptoms. The paraneoplastic autoimmune process may affect the nervous system, cutaneous tissue, musculoskeletal system, hematopoietic cells or kidneys. Paraneoplastic rheumatic diseases show symptoms similar to inflammatory myopathy, polyarthritis, vasculitis, cryoglobulinemia and polymyalgia rheumatica. Rapid onset, unusual age, asymmetrical involvement of joints or refractoriness to standard immunosuppressive therapy suggests the presence of paraneoplastic autoimmune diseases. Autoimmune hematopoietic disorders include pure red cell aplasia, autoimmune hemolytic anemia and thrombocytopenia. Unexplained anemia or thrombocytopenia may indicate the presence of lymphoid neoplasms. Membranous nephropathy is a well-known glomerular disease associated with malignancy, and membranoproliferative glomerulonephritis, minimal change nephrotic syndrome, and antineutrophil cytoplasmic antibody(ANCA)-associated crescentic glomerulonephritis may be seen in cancer patients. Age and sex-appropriate cancer screening should be performed in patients with nephrotic syndrome due to membranous nephropathy.
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PMID:[Paraneoplastic autoimmune disorders]. 2056 97

Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a pleiotropic disorder affecting the eyes, brain, bone and gastrointestinal tract. Its primary pathogenesis involves small vessel obliterative microangiopathy. Recently, autosomal recessively inherited mutations in CTC1 have been reported in CRMCC patients. We herein report an adolescent referred to our hospital following new seizures in a context of an undefined multisystem disorder. Cerebral imaging disclosed asymmetrical leukopathy, intracranial calcifications and cysts. In addition, he presented other typical CRMCC features i.e. a history of intrauterine growth retardation, skeletal demineralization and osteopenia, bilateral exudative vitreo-retinopathy reminiscent of Coats disease, recurrent gastrointestinal hemorrhages secondary to watermelon stomach and variceal bleeding of the esophagus due to idiopathic portal hypertension and telangiectatic and angiodysplasic changes in the small intestine and colon, and anemia due to recurrent bleeding and bone marrow abnormalities. The patient was diagnosed with Coats plus syndrome. CTC1 gene screening confirmed the diagnosis with the identification of heterozygous deleterious mutations. CRMCC due to CTC1 mutations has a broad clinical expressivity. Our case report illustrates the main possible associated phenotypes and their complications, demonstrating the need for a careful etiological search in order to initiate appropriate therapeutic and preventive measures.
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PMID:Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. 2584 5


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