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)

Three infants with documented mitochondrial fatty acid oxidation disorders are described in this report. Case 1. Carnitine/acylcarnitine translocase deficiency. (CACT) (OMIM 212138) A two-day-old male developed sudden cardiac arrest 48 hours postpartum, with a previous history of early death (day 2) in siblings with a history of parental consanguinity; somnolence, inactivity, refusal to suck within 24 h, hepatomegaly, persistent hypoglycemia, hypocalcemia, hyperkalemia and severe metabolic acidosis prior to cardiac arrest. Dried blood spots by tandem mass spectrometry demonstrated 10 x elevation of palmitoylcarnitine, moderate elevation of oleylcarnitine, steroylcarnitine and myristoylcarnitine. Case 2. Medium chain acyl CoA dehydrogenase (MCAD) deficiency. (OMIM 212139) A six-week-old male infant, developed sudden cardiac arrest after contacting a viral illness, resuscitated successfully in the first episode, only to succumb during the second episode, 2 weeks apart. Plasma acylcarnitine via tandem mass spectrometry was reported normal; however, urine organic acids via gas liquid chromatography and mass spectrometry demonstrated characteristic metabolites consistent with MCADD. Case 3. Carnitine deficiency, systemic primary. (CDSP) (OMIM 212140) A one-year-old girl with progressive dyspnea since birth and a history of parental consanguinity. Severe dilated cardiomyopathy with episodes of cardiac decompensations, hepatomegaly, anemia, generalized hypotonia, but no hypoglycemia were demonstrated prior to cardiac arrest. Extremely low carnitine level noted in dried blood spots via tandem mass spectrometry.
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PMID:Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. 1240 51

Severe anemia, growth retardation, diabetes mellitus, cardiac disorders, and, infrequently, stroke are well-known complications of thalassemia major. We report a girl, age 7 years, 2 months, with beta-thalassemia major associated with chronic renal failure, diabetes mellitus, and cardiomyopathy in whom a silent stroke was noted during follow-up. She was diagnosed with thalassemia major at age 6 months, chronic renal failure at age 3 years, 3 months, and diabetes mellitus and cardiomyopathy at age 7 years. Although cranial computed tomography was found to be normal at the age of 3 years, 3 months, magnetic resonance imaging showed cerebral infarct in the right frontal region at 7 years, 2 months. A thrombophilic panel revealed increased factor VIII and decreased protein C concentrations. She died from disseminated intravascular coagulation at age 7 years, 9 months. We did not record any clinical findings of stroke during her follow-up. We think that diabetes mellitus, dilated cardiomyopathy, and increased factor VIII and decreased protein C concentrations led to the occurrence of cerebral infarct. In conclusion, we emphasize that children with thalassemia major should be monitored closely for stroke. We also suggest that stroke can show a silent progression in severely affected children, as in our case.
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PMID:Silent stroke in a case of beta-thalassemia major associated with chronic renal failure and diabetes mellitus. 1469 9

Neonatal lupus is an uncommon autoimmune disease manifested primarily by cutaneous lupus lesions and/or congenital heart block. Maternal autoantibodies of the Ro/La family are present in virtually every case, although only approximately 1% of women who have these autoantibodies will have a baby with neonatal lupus. The cutaneous lesions of neonatal lupus may be present at birth, but more often develop within the first few weeks of life. Lesions are most common on the face and scalp, often in a distinctive periorbital distribution. Lesions tend to resolve in a few weeks or months without scarring. The most common cardiac manifestation of neonatal lupus is complete heart block. Heart block typically begins in utero during the second or third trimester. In some cases, heart block begins as first- or second-degree block and then progresses to third-degree block. Complete heart block, once established, appears to be irreversible. In some cases, cardiomyopathy occurs together with complete heart block. Most cases have been noted at birth, but delayed dilated cardiomyopathy has been reported. There have been a few cases of endocardial fibroelastosis occurring in the absence of congenital heart block. Hepatobiliary disease occurs in about 10% of cases. Three types of hepatobiliary disease have been observed: liver failure occurring at birth or in utero, transient conjugated hyperbilirubinemia occurring in infants, or transient transaminase elevations occurring in infants. Hematologic disease, consisting of thrombocytopenia, neutropenia, or anemia, occurs in about 10% of cases. It is common for children with neonatal lupus not to have the full expression of disease, but rather to have only one or two organ systems involved. The diagnosis rests largely on the finding of compatible clinical manifestations plus maternal autoantibodies to Ro and/or La, or, in a few cases, to U1 ribonuclear protein. Although the pathogenesis has not been conclusively established, accumulating evidence, including evidence from animal models, implicates autoantibodies in the pathogenesis of the disease. Therapeutic interventions include attempts at prevention, early intervention, and treatment of well established disease, mainly through the use of systemic corticosteroids. Optimal therapy has yet to be determined. The long-term prognosis for children who have had neonatal lupus is still under investigation, but some children who had neonatal lupus have developed other autoimmune diseases later in childhood. About half of the mothers are asymptomatic at the time of presentation of the child, but some of these women eventually develop symptoms of autoimmune disease.
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PMID:Neonatal lupus: clinical features and management. 1503 48

This article describes the relationship between CVD and CKD, the current state of knowledge regarding medical interventions, and underscores the importance of attending to both CVD and kidney disease aspects in each individual. The burden of cardiac disease in CKD patients is high with severe LVH, dilated cardiomyopathy and coronary artery disease occurring frequently. This predisposes to congestive heart failure, angina, myocardial infarction, and death. Multiple risk factors for cardiac disease exist and include hypertension, diabetes, smoking, anemia, abnormal calcium and phosphate metabolism, inflammation, and LVH. The efficacy of risk factor intervention has not been established in these populations, although there is good evidence for good blood pressure control, partial correction of anemia, treatment of dyslipidemia, cessation of tobacco use, correction of divalent abnormalities, and aspirin us. Appropriate use of ACE inhibitors, beta-blockers, and statins should be encouraged.
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PMID:Multiple risk factor intervention in chronic kidney disease: management of cardiac disease in chronic kidney disease patients. 1575 65

The review summarizes literature data on alterations of structure or expression of different nuclear matrix proteins in hereditary syndromes. From the point of view of involvement of nuclear matrix proteins in etiology and pathogenesis of the disease hereditary pathologies can be classified in pathologies with pathogenesis associated with defects of nuclear matrix proteins and pathologies associated to changes of the nuclear matrix protein spectrum. The first group includes laminopathies, hereditary diseases with abnormal nuclear-matrix associated proteins and triplet extension diseases associated with accumulation of abnormal proteins in the nuclear matrix. Laminopathies are hereditary diseases coupled to structural defects of the nuclear lamina. These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg Skeletal Dysplasia, and Pelger-Huet anomaly (PHA). Most of them are due to mutations in the lamin A/C gene, one - to mutations in emerin gene, some are associated with mutations in Lamin B receptor gene. In Werner's, Bloom's, Cockayne's syndromes, Fanconi anemia, multiple carboxylase deficiency mutations in nuclear matrix protein or enzyme gene lead to deficient DNA repair, abnormal regulation of cell growth and differentiation or other specific metabolic functions. Proteins with a long polyglutamic tract synthesized in the cells of patients with dentato-rubral and pallido-luysian atrophy, myotonic dystrophy and Huntington disease interfere with transcription on the nuclear matrix. Down's syndrome is a representative of the group of diseases with altered nuclear matrix protein spectrum.
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PMID:Nuclear matrix proteins and hereditary diseases. 1586 82

There is a high burden of cardiac disease in the CKD population. Severe LVH, dilated cardiomyopathy, and coronary artery disease occur frequently and result in the manifestations of CHF,which is probably more important with respect to prognosis than symptomatic. Multiple risk factors for CVD include traditional risk factors and those unique to the CKD population. Furthermore, the distinctive aspects of CKD patients sometimes warrant special consideration in making management decisions. Nonetheless, interventions such as controlling hypertension, specific pharmacologic options, lifestyle modification, anemia management, and early nephrology referral are recommended when appropriate.
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PMID:Congestive heart failure in chronic kidney disease: disease-specific mechanisms of systolic and diastolic heart failure and management. 1608 77

IN-CHF is a multicenter registry, designed in 1995 to compile a large clinical database on the epidemiological, clinical characteristics, management and outcomes of heart failure outpatients. Main objectives of IN-CHF registry were to provide cardiological centers with a software to collect data of outpatients during office visit, for educational purpose; and to enter local data into a national registry (IN-CHF registry), for scientific purpose. Entry into the database required a diagnosis of heart failure according to the guidelines of the European Society of Cardiology. The central coordinator of the project was the ANMCO Research Center. The Italian cardiological centers participating in the project are 142, they are well representing the entire country and from March 1995 to July 2005 collected data from 23 855 outpatients. The mean age of the patients was 65+/-13 years and 71.3% were men. Main etiologies were ischemic in 39.4%, hypertensive in 15.8 %, and due to dilated cardiomyopathy in 29%. More than half of the patients (55.3%) had a history of admission for heart failure within the last year; 25.8% of the patients were in NYHA class III-IV, 9.5% showed a heart rate > 100 bpm and 16.5% third heart sound. Left ventricular ejection fraction was severely depressed (< 30%) in 27.6% of the patients, while it was > 40% in 30.9%. Renal dysfunction was present in 3.6% of the patients (serum creatinine level > 2.5 mg/dl), pulmonary disease in 18.7%, diabetes in 16.8% and anemia (hemoglobin < 12 g/dl) in 18.7%. A history of arterial hypertension was common (30.3%); 20.0% and 18.5% of the patients showed atrial fibrillation and left bundle branch block, respectively. Data from our registry provide important insights into clinical and epidemiological characteristics of heart failure outpatients followed in Italian cardiological centers. Starting from this article, every 3 months, the most relevant epidemiological data collected by the IN-CHF investigators will be published.
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PMID:[Italian Network on Congestive Heart Failure: ten-year experience]. 1717 92

Pharmacologic activation of the heterodimeric HIF transcription factor appears promising as a strategy to treat diseases, such as anemia, myocardial infarction, and stroke, in which tissue hypoxia is a prominent feature. HIF accumulation is normally linked to oxygen availability because an oxygen-dependent posttranslational modification (prolyl hydroxylation) marks the HIFalpha subunit for polyubiquitination and destruction. Three enzymes (PHD1, PHD2, and PHD3) capable of catalyzing this reaction have been identified, although PHD2 (also called Egln1) appears to be the primary HIF prolyl hydroxylase in cell culture experiments. We found that conditional inactivation of PHD2 in mice is sufficient to activate a subset of HIF target genes, including erythropoietin, leading to striking increases in red blood cell production. Mice lacking PHD2 exhibit premature mortality associated with marked venous congestion and dilated cardiomyopathy. The latter is likely the result of hyperviscosity syndrome and volume overload, although a direct effect of chronic, high-level HIF stimulation on cardiac myocytes cannot be excluded.
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PMID:Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failure. 1809 61

Hypoxia-inducible factor (HIF) has a pivotal role in oxygen homeostasis and cardioprotection mediated by ischemic preconditioning. Its stability is regulated by HIF prolyl 4-hydroxylases (HIF-P4Hs), the inhibition of which is regarded as a promising strategy for treating diseases such as anemia and ischemia. We generated a viable Hif-p4h-2 hypomorph mouse line (Hif-p4h-2(gt/gt)) that expresses decreased amounts of wild-type Hif-p4h-2 mRNA: 8% in the heart; 15% in the skeletal muscle; 34-47% in the kidney, spleen, lung, and bladder; 60% in the brain; and 85% in the liver. These mice have no polycythemia and show no signs of the dilated cardiomyopathy or hyperactive angiogenesis observed in mice with broad spectrum conditional Hif-p4h-2 inactivation. We focused here on the effects of chronic Hif-p4h-2 deficiency in the heart. Hif-1 and Hif-2 were stabilized, and the mRNA levels of glucose transporter-1, several enzymes of glycolysis, pyruvate dehydrogenase kinase 1, angiopoietin-2, and adrenomedullin were increased in the Hif-p4h-2(gt/gt) hearts. When isolated Hif-p4h-2(gt/gt) hearts were subjected to ischemia-reperfusion, the recovery of mechanical function and coronary flow rate was significantly better than in wild type, while cumulative release of lactate dehydrogenase reflecting the infarct size was reduced. The preischemic amount of lactate was increased, and the ischemic versus preischemic [CrP]/[Cr] and [ATP] remained at higher levels in Hif-p4h-2(gt/gt) hearts, indicating enhanced glycolysis and an improved cellular energy state. Our data suggest that chronic stabilization of Hif-1alpha and Hif-2alpha by genetic knockdown of Hif-p4h-2 promotes cardioprotection by induction of many genes involved in glucose metabolism, cardiac function, and blood pressure.
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PMID:Hearts of hypoxia-inducible factor prolyl 4-hydroxylase-2 hypomorphic mice show protection against acute ischemia-reperfusion injury. 2018 32

Dilated cardiomyopathy (DC) is a rare but potentially fatal complication of epidermolysis bullosa. No clear cause for it has been identified, but iron overload, low carnitine, low selenium, concomitant viral illness, chronic anemia, and medications have been proposed as possible contributors to the development of DC in reported cases. Early detection allows for medical treatment that delays clinical progression and prolongs survival.
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PMID:Dilated cardiomyopathy in epidermolysis bullosa. 2044 1


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