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Etiology of polycythemia

Mervat M Mattar, Mohammed Abdel Kader Morad, Noha M El Husseiny, Noha H Ali, Doaa M El Demerdash
Myeloproliferative neoplasms are characterized by a common stem cell-derived clonal proliferation, but are phenotypically diverse. JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Pulmonary arterial hypertension (PAH) is a major complication of several hematological disorders. Chronic myeloproliferative disorders associated with PAH have been included in group five for which the etiology is unclear and/or multifactorial...
October 2016: Annals of Hematology
Amir Ahmad Nassiri, Legha Lotfollahi, Mehrdad Bakhshayeshkaram, Arda Kiani, Shirin Haghighi, Ilad Alavi Darazam, Farin Rashidfarokhi
Renal lymphangiectasia is a disorder of the lymphatic system of the kidneys, which can be congenital or acquired. Although the exact etiology remains unknown, an obstructive process resulting from several causes, including infection, inflammation or malignant infiltration, has been suggested to be responsible for the acquired form. This disorder may be associated with several pathologies. We report a case of a 24-year-old man with renal lymphangiectasia presenting with polycythemia, ascites and pleural effusion associated with hepatitis C virus (HCV) infection in an intravenous (IV) drug user...
2015: Tanaffos
Alexis D Leal, Carrie A Thompson, Alice H Wang, Robert A Vierkant, Thomas M Habermann, Julie A Ross, Ruben A Mesa, Beth A Virnig, James R Cerhan
BACKGROUND: Hormonal and reproductive history has been associated with risk of some hematologic malignancies, but their role in myeloproliferative neoplasms (MPN) is largely unknown. METHODS: Using a population-based cohort study, we evaluated the association of these factors with risk of MPN overall, and for essential thrombocythemia (ET) and polycythemia vera (PV) specifically. Incident MPN cases from 1993 to 2004 were identified via linkage to Medicare. RR and 95% confidence intervals (CI) were estimated utilizing Cox proportional hazard regression...
January 2016: Cancer Epidemiology, Biomarkers & Prevention
Tomohisa Nezu, Shiro Aoki, Kazuhide Ochi, Sayaka Sugihara, Tetsuya Takahashi, Naohisa Hosomi, Hirofumi Maruyama, Masayasu Matsumoto
CASE REPORT: A 58-year-old man presenting with no vascular risk factors visited our hospital with right hemiparesis and total aphasia. Diffusion-weighted magnetic resonance imaging of the brain showed multiple hyperintensities in watershed distributions in the left hemisphere. Magnetic resonance angiography (MRA) revealed stenosis of the middle cerebral artery, despite normal MRA findings 2 months prior. One year after the first stroke, the patient experienced a recurrent ischemic stroke involving the left anterior choroidal artery, pulmonary embolism, and deep venous thrombosis...
December 2015: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Peter I Kalmar, Andreas Leithner, Reinhard Ehall, Rupert Horst Portugaller
BACKGROUND: Spontaneous recurrent hemorrhage after arthroplasty of the hip or knee is a rare condition. In patients who do not have coagulopathy, the likeliest etiology for hemarthrosis is hypertrophic vascular synovium. Treatments include arthroscopic or open synovectomy, or angiography with embolization; however, because the condition is rare, seldom reported, and debilitating, small case series characterizing the efficacy of any approach are important to allow a collective experience with this condition to emerge...
January 2016: Clinical Orthopaedics and related Research
Zbyněk Straňák, Peter Korček, Lucie Hympánová, Martin Kynčl, Ladislav Krofta
Limb ischemia is an extremely rare event occuring in monochorionic twin pregnancy complicated by twin-to-twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS). The authors describe a case of TTTS and TAPS treated successfully using amnioreduction and laser ablation. However, severe ischemia of both lower extremities in the recipient twin developed after the fetal treatment. This serious complication was diagnosed on MRI in utero and confirmed postnatally. Elective amputation of the affected limbs was performed...
July 7, 2015: Fetal Diagnosis and Therapy
Petr Dulíček, Petr Hůlek, Antonin Krajina, Ondrej Renc, Václav Šafka, Tomas Fejfar, Petr Sadílek, Martin Beránek, Jan J Michiels, Pavel Žák
BACKGROUND: Budd-Chiari Syndrome (BCS) is characterized by obstruction of blood flow in hepatic veins. The aim of the study was to analyze diagnosis, etiology and management of BCS. METHODS: We analyzed 44 patients (32 females, 12 males, the mean age <35y of age) treated with TIPS. Ascites was found in 35 patients as the most frequent symptom. The median of total follow-up was 52 months. Non-covered (bare) or covered stent was inserted to all patients. Diagnosis of myeloproliferative neoplasm (MPN) was based on WHO criteria...
February 2016: International Angiology: a Journal of the International Union of Angiology
Xu Zhang, Wei Zhang, Santosh L Saraf, Mehdi Nouraie, Jin Han, Michel Gowhari, Johara Hassan, Galina Miasnikova, Adelina Sergueeva, Sergei Nekhai, Rick Kittles, Roberto F Machado, Joe G N Garcia, Mark T Gladwin, Martin H Steinberg, Paola Sebastiani, Donald A McClain, Victor R Gordeuk
Environmental variations have strong influences in the etiology of type 2 diabetes mellitus. In this study, we investigated the genetic basis of diabetes in patients with sickle cell disease (SCD), a Mendelian disorder accompanied by distinct physiological conditions of hypoxia and hyperactive erythropoiesis. Compared to the general African American population, the prevalence of diabetes as assessed in two SCD cohorts of 856 adults was low, but it markedly increased with older age and overweight. Meta-analyses of over 5 million single-nucleotide polymorphisms (SNPs) in the two SCD cohorts identified a SNP, rs59014890, the C allele of which associated with diabetes risk at P = 3...
August 2015: Human Genetics
Grace Lee, Murat O Arcasoy
Erythrocytosis is frequently encountered as an incidental abnormality on laboratory testing that reveals persistent elevation of the hematocrit level (>52% in men and >48% in women). In many cases, erythrocytosis is the manifestation of an underlying cardiopulmonary process, drug-induced due to androgens, or secondary to smoking, rather than a primary bone marrow disorder such as polycythemia vera. A systematic approach to the clinical and laboratory evaluation of each patient is indicated to consider diverse differential diagnosis possibilities and to identify the underlying etiology of erythrocytosis in order to formulate appropriate subspecialist referral and management plans...
June 2015: European Journal of Internal Medicine
Soji Morishita, Kochi Takahashi, Marito Araki, Yumi Hironaka, Yoshitaka Sunami, Yoko Edahiro, Miyuki Tsutsui, Akimichi Ohsaka, Satoshi Tsuneda, Norio Komatsu
Detection of the JAK2V617F mutation is essential for diagnosing patients with classical myeloproliferative neoplasms (MPNs). However, detection of the low-frequency JAK2V617F mutation is a challenging task due to the necessity of discriminating between true-positive and false-positive results. Here, we have developed a highly sensitive and accurate assay for the detection of JAK2V617F and named it melting curve analysis after T allele enrichment (MelcaTle). MelcaTle comprises three steps: 1) two cycles of JAK2V617F allele enrichment by PCR amplification followed by BsaXI digestion, 2) selective amplification of the JAK2V617F allele in the presence of a bridged nucleic acid (BNA) probe, and 3) a melting curve assay using a BODIPY-FL-labeled oligonucleotide...
2015: PloS One
Carol Ann Gross-Davis, Karyn Heavner, Arthur L Frank, Craig Newschaffer, Judith Klotz, Regina M Santella, Igor Burstyn
BACKGROUND: The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens. METHODS: We conducted a population-based case-control study in three rural Pennsylvania counties of persons born 1921-1968 and residing in the area between 2000-2008. Twenty seven MPN cases and 292 controls were recruited through random digit dialing...
March 2015: International Journal of Environmental Research and Public Health
Andreia F Fernandes, Heather Fenton, Shannon Martinson, Marion Desmarchelier, Shannon T Ferrell
An approximately 6-mo-old female bald eagle (Haliaeetus leucocephalus) was presented for an inability to fly and bilateral drooped wings. Pectoral muscle atrophy with a moderate polycythemia was present. Over the course of 3 wk, there were no improvements in flight capacity, although the bird gained substantial weight. Further investigation revealed a prominent cyanosis that was responsive to oxygen therapy, a chronic respiratory acidosis with hypoxia, a cardiac murmur, and a persistent polycythemia. No obvious antemortem etiology for the clinical findings was discovered on computerized tomography, angiography, or echocardiography...
December 2014: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Elona Dhrami-Gavazi, Winston Lee, Jason D Horowitz, Jeffrey Odel, Sri Krishna Mukkamala, Dana M Blumberg, Michael Weiss, Bryan J Winn
PURPOSE: To report the case of a 49-year-old man who presented with profound visual loss in his right eye because of a central retinal artery occlusion, accompanied by a stroke in the ipsilateral middle cerebral artery with left upper extremity sequelae. METHODS: The patient underwent a comprehensive ophthalmologic examination, fluorescein angiography, thorough neuroophthalmology evaluation, including magnetic resonance imaging and magnetic resonance angiography, 12-lead electrocardiogram, transesophageal echocardiogram, bilateral carotid artery Doppler, Holter monitoring, comprehensive laboratory testing, bone marrow biopsy, and genetic testing...
2015: Retinal Cases & Brief Reports
Laurence Albiges, Hassan Izzedine, Stéphane Ederhy, Caroline Robert, Gwenaëlle Gravis, Helen Boyle, Florian Scotté, Dana Hartl, Bernard Escudier
PURPOSE: The objective of this article is to summarize the knowledge as for the side effects related to axitinib in terms of incidence, etiology and symptoms for the effects requiring a specific management. METHODS: This article follows upon the recommendations for the clinical practice, published in 2011, which detailed the management of secondary specific toxicities related to targeted therapies prescribed for the treatment of metastatic renal cell carcinoma with a focus on axitinib...
October 2014: Bulletin du Cancer
Evan M Braunstein, Alison R Moliterno
The myeloproliferative disorders (MPDs) are a group of hematologic diseases with significant overlap in both clinical phenotype and genetic etiology. While most often caused by acquired somatic mutations in hematopoietic stem cells, the presence of familial clustering in MPD cases suggests that inheritance is an important factor in the etiology of this disease. Though far less common than sporadic disease, inherited MPDs can be clinically indistinguishable from sporadic disease. Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis...
December 2014: Current Hematologic Malignancy Reports
Jan Jacques Michiels, Zwi Berneman, Wilfried Schroyens, Hendrik De Raeve
The Polycythemia Vera Study Group (PVSG) and WHO classifications distinguished the Philadelphia (Ph(1)) chromosome-positive chronic myeloid leukemia from the Ph(1)-negative myeloproliferative neoplasms (MPN) essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (MF) or primary megakaryocytic granulocytic myeloproliferation (PMGM). Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and carry the JAK2(V617F) mutation, indicating prodromal PV. The positive predictive value of a JAK2(V617F) PCR test is 95% for the diagnosis of PV, and about 50% for ET and MF...
2015: Acta Haematologica
Asha Moudgil
Neonatal renal vein thrombosis (RVT) is associated with potentially serious morbidities. Almost 80% of cases of RVT present within the first postnatal month. The most common risk factors for RVT are birth asphyxia/ in utero fetal distress, being the infant of a diabetic mother, volume contraction and coagulation abnormalities. Thrombus formation may be initiated by vascular injury, diminished vascular flow, increased blood viscosity, hyperosmolality or underlying thrombophilia. The classic triad of RVT includes gross hematuria, flank mass (unilateral or bilateral enlargement of kidneys) and thrombocytopenia...
2014: Current Pediatric Reviews
Oana Viola Bădulescu, Manuela Ciocoiu, Iris Bararu, Mădălina Mocanu, Magda Bădescu
UNLABELLED: The aim of our study was to investigate whether the disorder of coagulation and fibrinolysis factors are mechanisms that contribute to the prothrombotic state in patients with polycythemia vera (PV) syndrome with or without cardiovascular disease (CVD), in order to identify the patients having high risk for thrombotic events. MATERIAL AND METHODS: The study comprises 20 patients divided in 2 groups: 10 patients with PV syndrome (PV) and 10 patients with PV and cardiovascular diseases associated (PV+CVD)...
April 2014: Revista Medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti Din Iaş̧i
Hidemi Toyoda, Jyunya Hirayama, Yuka Sugimoto, Keiichi Uchida, Kohshi Ohishi, Masahiro Hirayama, Yoshihiro Komada
Recently, a new syndrome of paraganglioma, somatostatinoma, and polycythemia has been discovered (known as Pacak-Zhuang syndrome). This new syndrome, with somatic HIF2A gain-of-function mutations, has never been reported in male patients. We describe a male patient with Pacak-Zhuang syndrome who carries a newly discovered HIF2A mutation. Congenital polycythemias have diverse etiologies, including germline mutations in the oxygen-sensing pathway. These include von Hippel-Lindau (Chuvash polycythemia), prolyl hydroxylase domain-containing protein-2, and hypoxia-inducible factor-2α (HIF-2α)...
June 2014: Pediatrics
L M Morton, T M Gibson, C A Clarke, C F Lynch, L A Anderson, R Pfeiffer, O Landgren, D D Weisenburger, E A Engels
Solid organ transplant recipients have elevated cancer risks, owing in part to pharmacologic immunosuppression. However, little is known about risks for hematologic malignancies of myeloid origin. We linked the US Scientific Registry of Transplant Recipients with 15 population-based cancer registries to ascertain cancer occurrence among 207 859 solid organ transplants (1987-2009). Solid organ transplant recipients had a significantly elevated risk for myeloid neoplasms, with standardized incidence ratios (SIRs) of 4...
December 2014: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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