Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Horses kept for recreational riding purposes by a wildlife tourism company in a heavily tsetse fly-infested region of north-western Tanzania were systematically monitored to investigate the occurrence, presentation and management of tsetse-transmitted trypanosomosis. During a 23-month period, 18 clinical cases were diagnosed (Trypanosoma brucei or Trypanosoma congolense were identified) and treated and trypanosomes were implicated of involvement in four deaths. Pyrexia consistently aided early detection (17 cases). Ataxia, weight loss and anaemia were seen in chronic cases and conferred a poor prognosis. Delaying treatment by more than 2 days from the onset of clinical signs led to prolonged disease course and more severe anaemia. Early detection, prompt treatment, thorough post-treatment health monitoring and rigorous prophylactic measures helped keep clinical cases to manageable levels, but re-infection remained a constant, insidious threat.
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PMID:Health management of horses under high challenge from trypanosomes: a case study from Serengeti, Tanzania. 1845 Mar 81

Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating neurodegenerative disorder, characterized by almost identical brain changes, e.g., focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem, but with considerable clinical and genetic heterogeneity. Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near absence of abnormalities. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also present with peripheral nervous system involvement, including polyneuropathy or myopathy, or non-neurologic abnormalities, e.g., diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). In the majority of cases, onset is in early childhood, but in a small number of cases, adults are affected. In the majority of cases, dysfunction of the respiratory chain (particularly complexes I, II, IV, or V), of coenzyme Q, or of the pyruvate dehydrogenase complex are responsible for the disease. Associated mutations affect genes of the mitochondrial or nuclear genome. Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest genetic heterogeneity.
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PMID:Leigh and Leigh-like syndrome in children and adults. 1880 59

Obatoclax mesylate is a small molecule pan-Bcl-2 antagonist with in vitro activity against chronic lymphocytic leukemia (CLL) cells. Obatoclax was administered to patients with advanced CLL at doses ranging from 3.5 to 14 mg/m(2) as a 1-hour infusion and from 20 to 40 mg/m(2) as a 3-hour infusion every 3 weeks. Twenty-six patients received a total of 74 cycles. Dose-limiting reactions were neurologic (somnolence, euphoria, ataxia) and associated with the infusion. The maximum tolerated dose (MTD) was 28 mg/m(2) over 3 hours every 3 weeks. One (4%) of 26 patients achieved a partial response. Patients with anemia (3/11) or thrombocytopenia (4/14) experienced improvements in hemoglobin and platelet counts. Circulating lymphocyte counts were reduced in 18 of 26 patients with a median reduction of 24%. Overall, the maximum plasma concentration (C(max)) and area under the curve (AUC) values of obatoclax were dose proportional. Activation of Bax and Bak was demonstrated in peripheral blood mononuclear cells, and induction of apoptosis was related to overall obatoclax exposure, as monitored by the plasma concentration of oligonucleosomal DNA/histone complexes. Obatoclax mesylate has biologic activity and modest single-agent activity in heavily pretreated patients with advanced CLL. Further evaluation in less heavily pretreated patients and in combination with other therapeutic agents is warranted. This trial has been registered with http://clinicaltrials.gov under identifier NCT00600964.
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PMID:Phase I study of obatoclax mesylate (GX15-070), a small molecule pan-Bcl-2 family antagonist, in patients with advanced chronic lymphocytic leukemia. 1893 44

Previous work has shown several proteins defective in Fanconi anemia (FA) are phosphorylated in a functionally critical manner. FANCA is phosphorylated after DNA damage and localized to chromatin, but the site and significance of this phosphorylation are unknown. Mass spectrometry of FANCA revealed one phosphopeptide, phosphorylated on serine 1449. Serine 1449 phosphorylation was induced after DNA damage but not during S phase, in contrast to other posttranslational modifications of FA proteins. Furthermore, the S1449A mutant failed to completely correct a variety of FA-associated phenotypes. The DNA damage response is coordinated by phosphorylation events initiated by apical kinases ATM (ataxia telangectasia mutated) and ATR (ATM and Rad3-related), and ATR is essential for proper FA pathway function. Serine 1449 is in a consensus ATM/ATR site, phosphorylation in vivo is dependent on ATR, and ATR phosphorylated FANCA on serine 1449 in vitro. Phosphorylation of FANCA on serine 1449 is a DNA damage-specific event that is downstream of ATR and is functionally important in the FA pathway.
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PMID:ATR-dependent phosphorylation of FANCA on serine 1449 after DNA damage is important for FA pathway function. 1910 55

A caracal (Caracal caracal) was bitten on the lower lip by a southern Pacific rattlesnake (Crotalus viridis helleri) and quickly developed progressive, severe soft tissue swelling and bruising of this site. Initial laboratory results revealed prolonged clotting times within the first hour of envenomation, followed by signs of vasculitis and anemia. The caracal was successfully treated with intravenous crystalloids, four vials of polyvalent crotalidae antivenom, and transfusions of bovine hemoglobin glutamer-200 (Oxyglobin) and fresh whole blood. The progressive soft tissue swelling and bruising halted and the coagulation parameters improved after administration of antivenom; however, the caracal continued to show neurologic dysfunction, including depression, weakness, muscle fasciculations, anisocoria, and ataxia. Administration of an additional vial of antivenom 72 hr after envenomation quickly corrected the weakness and muscle fasciculations, whereas the anisocoria and mild ataxia persisted for another 24 hr. The caracal remains clinically normal 3 yr after the envenomation.
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PMID:Successful treatment of a southern Pacific rattlesnake (Crotalus viridis helleri) bite in a caracal (Caracal caracal). 1956 91

Forty-two cases of feline permethrin toxicity treated at a referral hospital in Sydney, Australia were retrospectively reviewed. In most cases canine permethrin spot-on (PSO) flea products had been directly applied to affected cats. Most presented during summer and there was an increase in cases during the 2007/2008 period. Clinical signs included; tremors/muscle fasciculations (86%), twitches (41%), hyperaesthesia (41%), seizures (33%), pyrexia (29%), ptyalism (24%), ataxia (24%), mydriasis (19%) and temporary blindness (12%). Treatment involved decontamination, anticonvulsants and supportive care. Methocarbamol was not used. Complications occurred in 33% of cats and included: hypothermia (29%), electrolyte abnormalities (26%), aspiration pneumonia (12%), hypoproteinaemia (12%), anaemia (5%), apnoea (7%), respiratory arrest (5%), cardiorespiratory arrest (2%), pleural effusion (2%), urinary tract infection (2%) and corneal ulceration (2%). One cat was euthanased. Feline permethrin toxicity may result in severe clinical signs requiring intensive treatment. Despite prominent label warnings, cases of feline permethrin toxicity continue to occur in Australia and may be fatal.
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PMID:Feline permethrin toxicity: retrospective study of 42 cases. 2012 80

At necropsy, an 11-year-old Japanese Black cow with anemia, leukocytopenia, and progressive hind limb ataxia had marked diffuse splenomegaly and multiple masses in the thoracic vertebrae. Histologically, neoplastic erythrophagocytic histiocytes were in the splenic red pulp, vertebral masses, and blood vessels of the liver and lungs. The spinal cord was compressed by the vertebral masses. Clinicopathological, macroscopic, and histologic findings were consistent with hemophagocytic histiocytic sarcoma. Vertebral involvement with spinal cord compression and resultant hind limb ataxia is an unusual presentation for this tumor, which has been described mainly in dogs and cats.
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PMID:Hemophagocytic histiocytic sarcoma in a Japanese black cow. 2013 54

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes a member of the ATP-binding cassette transporter family. Studies in yeast, mammalian cells, and mice have shown that ABCB7 functions in the transport of iron-sulfur (Fe-S) clusters into the cytoplasm. To further investigate the mechanism of this disease, we have identified and characterized the Caenorhabditis elegans homologue of the ABCB7 gene, abtm-1. We have studied the function of abtm-1 using mutants and RNAi. abtm-1-depleted animals produce arrested embryos that have morphogenetic defects and unusual premature, putative apoptotic events. abtm-1(RNAi) animals also show accumulation of ferric iron and increased oxidative stress. Despite the increased level of oxidative stress in abtm-1(RNAi) animals, they have an increased life span. We observed accumulation of DAF-16/FOXO in the nuclei of affected animals and elevation of the expression of SOD-3, a well established target of DAF-16, which may explain the increased life span extension of these animals. abtm-1 is strongly expressed in tissues with a high energy demand, and abtm-1(RNAi) animals have phenotypes that reflect the need for abtm-1 in these tissues. Finally, we show that reducing the function of other genes involved in Fe-S cluster production produces similar phenotypic consequences to abtm-1 loss of function. Therefore, ablation of abtm-1 in C. elegans provides a model in which to investigate the mechanism underlying XLSA/A.
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PMID:Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans. 2146 30

COL-3 is a chemically modified tetracycline that targets multiple aspects of matrix metalloproteinase regulation. This phase I clinical trial was conducted to determine the maximum tolerated dose (MTD) of COL-3 in adults with recurrent high-grade glioma, to describe the effects of enzyme-inducing antiseizure drugs (EIADs) on its pharmacokinetics, and to obtain preliminary evidence of activity. Adults with recurrent high-grade glioma were stratified by EIAD use. COL-3 was given orally daily without interruption until disease progression or treatment-related dose-limiting toxicity (DLT). Three patients in each EIAD group were evaluated at each dose level beginning with 25 mg/m(2)/day and escalated by 25 mg/m(2)/day. Toxicity, response, and pharmacokinetics were assessed. Thirty-three patients were evaluated. The MTD was 75 mg/m(2)/day in the -EIAD patients while one was not determined in +EIAD patients. The common toxicities observed were anemia, ataxia, diarrhea, hypokalemia, CNS hemorrhage, and myalgia. One partial response was observed. -EIAD patients tended to have a higher steady-state trough concentration that was apparent only at the 100 mg/m(2)/day dose level (P = 0.01). This study suggests that: (a) EIAD use does affect the pharmacokinetics of COL-3 at higher doses; and (b) there was not enough suggestion of single-agent activity to warrant further study in recurrent high-grade gliomas.
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PMID:Phase I and pharmacokinetic study of COL-3 in patients with recurrent high-grade gliomas. 2154 95

This is the case of a 42-year-old female who presented with transient dizziness. Her symptoms and signs progressed to include dysarthria, ataxia and cognitive decline over 2 years, such that she was unable to care for herself. She died 4 years after first presentation without a diagnosis. Investigations revealed a normochromic normocytic anaemia. Cerebrospinal fluid was normal. Serial computed tomography brain showed a wedge-shaped frontal infarct but no progressive changes. Examination at autopsy showed discoloration of the gray and white matter of the brain and spinal cord.Microscopy of leptomeningeal and parenchymal vessels showed they were filled with atypical B lymphocytes confined to the intravascular space with multiple infarcts in the brain, cerebellum and spinal cord. A diagnosis of intravascular B cell lymphoma was made and is discussed.
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PMID:A progressive multifocal neurological syndrome in a 42-year-old woman. 2185 78


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