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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by a remarkable increase in the platelet count and various clinical symptoms. The perioperative management of patients with ET has yet to be determined, especially when there are no clinical symptoms. We report herein the case of a woman with gallstones whose preoperative hematological data showed remarkable thrombocythemia, but her coagulation studies were normal. The Philadelphia chromosome was negative and bone marrow cytology showed a marked increase in megakaryocytes. Surgery was performed under a diagnosis of cholelithiasis with ET. Considering her severe thrombocythemia and obesity, sufficient heparin was administered to prevent deep vein thrombosis; however, this precipitated postoperative bleeding, necessitating a reoperation. A functional abnormality of the patient's platelets was suspected, and the aggregation by adenosine diphosphate was subsequently found to be significantly inhibited. As patients having ET with no symptoms might have depressed platelet aggregability despite remarkable thrombocythemia, when abdominal surgery is performed, prophylactic therapy for deep vein thrombosis should be avoided. Hence, the preoperative aggregation study of platelets might offer useful information about whether postoperative antithrombotic therapy is indicated.
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PMID:Surgery for cholecystocholedocholithiasis in a patient with asymptomatic essential thrombocythemia: report of a case. 978 83

An erythrocytosis describes an increased peripheral blood packed cell volume (PCV) and is deemed to be absolute or apparent depending on whether or not the measured red cell mass (RCM) is above the reference range. This reference range must be related to the individual's height and weight to avoid erroneous interpretations using ml/kg total body weight expressions in obesity. Absolute erythrocytoses are divided into primary, where the erythropoietic compartment is intrinsically abnormal, secondary, where the erythropoietic compartment is normal but is responding to external pathological events leading to an increased erythropoietin drive, and idiopathic, where neither a primary nor a secondary erythrocytosis can be established. Both primary and secondary erythrocytoses have congenital and acquired forms. The only form of primary acquired erythrocytosis that has been defined is the clonal myeloproliferative disorder, polycythaemia vera (PV). Modified diagnostic markers for PV are proposed. Thrombocytoses can be classified into primary, where megakaryopoiesis is intrinsically abnormal, secondary, where megakaryopoiesis is normal but increased platelet production is a reaction to some other unrelated pathology, and finally idiopathic. This latter new group would be used for patients not satisfying the criteria for primary or secondary thrombocytoses, if these were more precise and rigidly used than currently is the case. While theoretically congenital and acquired forms of primary and secondary thrombocytoses might exist, only one cause of secondary congenital thrombocytosis has been established, and primary congenital thrombocytosis has not yet been precisely defined. Primary (essential) thrombocythaemia (PT) is one of the forms of primary acquired thrombocytoses. The diagnostic criteria of PT traditionally involve the exclusion of secondary thrombocytoses and other myeloproliferative disorders but marrow histology could hold a key positive diagnostic role if objective histological features of PT were agreed.
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PMID:Diagnosis and classification of erythrocytoses and thrombocytoses. 1064 Feb 13

A postal survey of adverse events associated with bone marrow biopsy (aspiration biopsy with or without trephine biopsy) was carried out among British Society of Haematology members, between 1995 and 2001. A total of 26 adverse events, including one death directly attributable to the procedure, were reported among an estimated 54 890 biopsies. The most frequent and most serious adverse event was haemorrhage, reported in 14 patients, necessitating blood transfusion in six patients and leading to the single death. The potential risk factors most often associated with haemorrhage were a diagnosis of a myeloproliferative disorder, aspirin therapy or both. Other potential risk factors were warfarin therapy, disseminated intravascular coagulation and obesity.
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PMID:Bone marrow biopsy morbidity and mortality. 1278 8

The Mouse Phenome Database (MPD; http://www.jax.org/phenome) is an open source, web-based repository of phenotypic and genotypic data on commonly used and genetically diverse inbred strains of mice and their derivatives. MPD is also a facility for query, analysis and in silico hypothesis testing. Currently MPD contains about 1400 phenotypic measurements contributed by research teams worldwide, including phenotypes relevant to human health such as cancer susceptibility, aging, obesity, susceptibility to infectious diseases, atherosclerosis, blood disorders and neurosensory disorders. Electronic access to centralized strain data enables investigators to select optimal strains for many systems-based research applications, including physiological studies, drug and toxicology testing, modeling disease processes and complex trait analysis. The ability to select strains for specific research applications by accessing existing phenotype data can bypass the need to (re)characterize strains, precluding major investments of time and resources. This functionality, in turn, accelerates research and leverages existing community resources. Since our last NAR reporting in 2007, MPD has added more community-contributed data covering more phenotypic domains and implemented several new tools and features, including a new interactive Tool Demo available through the MPD homepage (quick link: http://phenome.jax.org/phenome/trytools).
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PMID:Mouse phenome database. 1898 3

Hypercoagulable states can be inherited or acquired. Inherited hypercoagulable states can be caused by a loss of function of natural anticoagulant pathways or a gain of function in procoagulant pathways. Acquired hypercoagulable risk factors include a prior history of thrombosis, obesity, pregnancy, cancer and its treatment, antiphospholipid antibody syndrome, heparin-induced thrombocytopenia, and myeloproliferative disorders. Inherited hypercoagulable states combine with acquired risk factors to establish the intrinsic risk of venous thromboembolism for each individual. Venous thromboembolism occurs when the risk exceeds a critical threshold. Often a triggering factor, such as surgery, pregnancy, or estrogen therapy, is required to increase the risk above this critical threshold.
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PMID:Hypercoagulable states. 2104 74

Hypercoagulable states can be inherited or acquired. Inherited hypercoagulable states can be caused by a loss of function of natural anticoagulant pathways or a gain of function in procoagulant pathways. Acquired hypercoagulable risk factors include a prior history of thrombosis, obesity, pregnancy, cancer and its treatment, antiphospholipid antibody syndrome, heparin-induced thrombocytopenia, and myeloproliferative disorders. Inherited hypercoagulable states combine with acquired risk factors to establish the intrinsic risk of venous thromboembolism for each individual. Venous thromboembolism occurs when the risk exceeds a critical threshold. Often a triggering factor, such as surgery, pregnancy, or estrogen therapy, is required to increase the risk above this critical threshold.
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PMID:Hypercoagulable states. 2208 21

Classical myeloproliferative neoplasms (MPNs) are composed of essential thrombocythemia (ET), polycythemia vera (PV) and myelofibrosis (MF), the etiology of which is largely unknown. We investigated the role of anthropometric, medical and lifestyle factors with risk of MPN in a prospective cohort of 27,370 women aged 55-69 years at enrollment. After >250,000 person-years of follow-up, 257 cases of MPN were identified (172 ET, 64 PV, 21 MF). Risk factor profiles were mostly unique for the two most common types, ET and PV. ET was associated with energy balance factors including body mass index (RR = 1.52 for >29.3 vs. <23.4 kg/m(2) ; p-trend = 0.042), physical activity (RR = 0.66 for high vs. low; p-trend = 0.04) and adult onset diabetes (RR = 1.82; p = 0.009), while PV was not. PV was associated with current smoking (RR = 2.83; p-trend = 0.016), while ET was not. Regular use of aspirin was associated with lower risk of ET (RR = 0.68; p = 0.017). These results broadly held in multivariate models. Our results suggest distinct etiologies for these MPN subtypes and raise mechanistic hypotheses related to obesity-related inflammatory pathways for ET and smoking-related carcinogenic pathways for PV. Regular aspirin use may lower risk for ET.
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PMID:Anthropometric, medical history and lifestyle risk factors for myeloproliferative neoplasms in the Iowa Women's Health Study cohort. 2411 27

The Mouse Phenome Database (MPD; phenome.jax.org) was launched in 2001 as the data coordination center for the international Mouse Phenome Project. MPD integrates quantitative phenotype, gene expression and genotype data into a common annotated framework to facilitate query and analysis. MPD contains >3500 phenotype measurements or traits relevant to human health, including cancer, aging, cardiovascular disorders, obesity, infectious disease susceptibility, blood disorders, neurosensory disorders, drug addiction and toxicity. Since our 2012 NAR report, we have added >70 new data sets, including data from Collaborative Cross lines and Diversity Outbred mice. During this time we have completely revamped our homepage, improved search and navigational aspects of the MPD application, developed several web-enabled data analysis and visualization tools, annotated phenotype data to public ontologies, developed an ontology browser and released new single nucleotide polymorphism query functionality with much higher density coverage than before. Here, we summarize recent data acquisitions and describe our latest improvements.
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PMID:Mouse phenome database. 2424 46

Portal vein thrombosis (PVT) is characterized by the obstruction of the portal venous system. The venous obstruction can be partial or complete and it is caused by thrombogenic conditions (acquired or hereditary) or nonthrombotic factors. The acquired conditions include abdominal inflammation, infections, surgery, myeloproliferative disorders, obesity, oral contraceptive intake, pregnancy, and postpartum period. Occasionally, it is not possible to recognize any overt cause of PVT. During pregnancy there is an increased venous thromboembolism risk mainly in the systemic venous system and the PVT can occur, but there are no data about its exact prevalence, etiology, and outcome. The portal cavernoma is the cavernomatous transformation of the portal vein. It is a consequence of chronic PVT and occurs when myriads of collateral channels develop to bypass the occlusion. The clinical presentation includes hematemesis due to variceal bleeding, ascites or anaemia, and splenomegaly. The cavernous transformation of the portal vein is easily diagnosed by sonography. We report our case of a 32-year-old, gravida 3 para 2, pregnant woman admitted to our hospital at 13 weeks and 1 day of gestation, clinically asymptomatic. Laboratory test, ultrasound, and endoscopic evaluation were negative. After a detailed counseling, the patient decided on termination of pregnancy at 15 weeks and 1 day of gestation.
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PMID:Portal Cavernoma during Pregnancy. 2439 31

Genetic linkage analyses, genome-wide association studies of single nucleotide polymorphisms, copy number variation surveys, and mutation screenings found the human chromosomal 12q24 locus, with the genes SH2B3 and ATXN2 in its core, to be associated with an exceptionally wide spectrum of disease susceptibilities. Hematopoietic traits of red and white blood cells (like erythrocytosis and myeloproliferative disease), autoimmune disorders (like type 1 diabetes, coeliac disease, juvenile idiopathic arthritis, rheumatoid arthritis, thrombotic antiphospholipid syndrome, lupus erythematosus, multiple sclerosis, hypothyroidism and vitiligo), also vascular pathology (like kidney glomerular filtration rate deficits, serum urate levels, plasma beta-2-microglobulin levels, retinal microcirculation problems, diastolic and systolic blood pressure and hypertension, cardiovascular infarction), furthermore obesity, neurodegenerative conditions (like the polyglutamine-expansion disorder spinocerebellar ataxia type 2, Parkinson's disease, the motor-neuron disease amyotrophic lateral sclerosis, and progressive supranuclear palsy), and finally longevity were reported. Now it is important to clarify, in which ways the loss or gain of function of the locally encoded proteins SH2B3/LNK and ataxin-2, respectively, contribute to these polygenic health problems. SH2B3/LNK is known to repress the JAK2/ABL1 dependent proliferation of white blood cells. Its null mutations in human and mouse are triggers of autoimmune traits and leukemia (acute lymphoblastic leukemia or chronic myeloid leukemia-like), while missense mutations were found in erythrocytosis-1 patients. Ataxin-2 is known to act on RNA-processing and trophic receptor internalization. While its polyglutamine-expansion mediated gain-of-function causes neuronal atrophy in human and mouse, its deletion leads to obesity and insulin resistance in mice. Thus, it is conceivable that the polygenic pathogenesis of type 1 diabetes is enhanced by an SH2B3-dysregulation-mediated predisposition to autoimmune diseases that conspires with an ATXN2-deficiency-mediated predisposition to lipid and glucose metabolism pathology.
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PMID:12q24 locus association with type 1 diabetes: SH2B3 or ATXN2? 2493 53


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