Page 912 - Williams Hematology ( PDFDrive )
P. 912

886  Part VI:  The Erythrocyte                          Chapter 57:  Primary and Secondary Erythrocytoses             887




                    142. Pacak K, Jochmanova I, Prodanov T, et al: New syndrome of paraganglioma and soma-    176. Boyer L, Chaar V, Pelle G, et al: Effects of polycythemia on systemic endothelial func-
                     tostatinoma associated with polycythemia. J Clin Oncol 31(13):1690, 2013.  tion in chronic hypoxic lung disease. J Appl Physiol (1985) 110(5):1196, 2011.
                    143. Yang C, Sun MG, Matro J, et al: Novel HIF2A mutations disrupt oxygen sensing, lead-    177. Nadeem O, Gui J, Ornstein DL: Prevalence of venous thromboembolism in patients
                     ing  to polycythemia,  paragangliomas,  and somatostatinomas.  Blood 121(13):2563,   with secondary polycythemia. Clin Appl Thromb Hemost 19(4):363, 2013.
                     2013.                                                178. Thorne SA: Management of polycythaemia in adults with cyanotic congenital heart
                    144. Mann DL, Gallagher NI, Donati RM: Erythrocytosis and primary aldosteronism. Ann   disease. Heart 79(4):315, 1998.
                     Intern Med 66(2):335, 1967.                          179. Shibata J, Hasegawa J, Siemens HJ, et al: Hemostasis and coagulation at a hematocrit
                    145. Erkelens DW, Statius van Eps LW: Bartter’s syndrome and erythrocytosis. Am J Med   level of 0.85: Functional consequences of erythrocytosis. Blood 101(11):4416, 2003.
                     55(5):711, 1973.                                     180. Ammash N, Warnes CA: Cerebrovascular events in adult patients with cyanotic con-
                    146. Ghio R, Haupt E, Ratti M, et al: Erythrocytosis associated with a dermoid cyst of the   genital heart disease. J Am Coll Cardiol 28(3):768, 1996.
                     ovary and erythropoietic activity of the tumour fluid. Scand J Haematol 27(2):70, 1981.    181. Stefenelli T, Silberbauer K, Ulrich W, et al: Cardial decompensation caused by hyper-
                    147. Shahani S, Braga-Basaria M, Maggio M, et al: Androgens and erythropoiesis: A review.   tension and polyglobulia associated with multiple renal oncocytomas.  Clin Nephrol
                     J Endocrinol Invest 32(8):704, 2009.                  23(6):307, 1985.
                    148. Gardner FH, Nathan DG, Piomelli S, et al: The erythrocythaemic effects of androgen.     182. Lezaic V, Biljanovic-Paunovic L, Pavlovic-Kentera V, et al: Erythropoiesis after kidney
                     Br J Haematol 14(6):611, 1968.                        transplantation: The role of erythropoietin, burst promoting activity and early ery-
                    149. Besa EC: Hematologic effects of androgens revisited: An alternative therapy in various   throid progenitor cells. Eur J Med Res 6(1):27, 2001.
                     hematologic conditions. Semin Hematol 31(2):134, 1994.    183. Niu X, Miasnikova GY, Sergueeva AI, et al: Altered cytokine profiles in patients with
                    150. Bachman E, Travison TG, Basaria S, et al: Testosterone induces erythrocytosis via   Chuvash polycythemia. Am J Hematol 84(2):74, 2009.
                     increased erythropoietin and suppressed hepcidin: Evidence for a new erythropoietin/    184. Sergueeva AI, Miasnikova GY, Okhotin DJ, et al: Elevated homocysteine, glutathione
                     hemoglobin set point. J Gerontol A Biol Sci Med Sci 69(6):725, 2014.  and cysteinylglycine concentrations in patients homozygous for the Chuvash poly-
                    151. Wiswell TE, Cornish JD, Northam RS: Neonatal polycythemia: Frequency of clinical   cythemia VHL mutation. Haematologica 93(2):279, 2008.
                     manifestations and other associated findings. Pediatrics 78(1):26, 1986.    185. Beutler E: Polycythemia. Med Grand Rounds 3:142, 1984.
                    152. Black VD, Lubchenco LO, Koops BL, et al: Neonatal hyperviscosity: Randomized study     186. Prchal JF, Axelrad AA: Letter: Bone-marrow responses in polycythemia vera. N Engl J
                     of  effect of  partial  plasma  exchange  transfusion  on  long-term  outcome.  Pediatrics   Med 290(24):1382, 1974.
                     75(6):1048, 1985.                                    187. Kralovics R, Buser AS, Teo SS, et al: Comparison of molecular markers in a cohort of
                    153. Jopling J, Henry E, Wiedmeier SE, et al: Reference ranges for hematocrit and blood   patients with chronic myeloproliferative disorders. Blood 102(5):1869, 2003.
                     hemoglobin concentration during the neonatal period: Data from a multihospital     188. Weinberg RS: In vitro erythropoiesis in polycythemia vera and other myeloproliferative
                     health care system. Pediatrics 123(2):e333, 2009.     disorders. Semin Hematol 34(1):64, 1997.
                    154. Christensen RD, Lambert DK, Henry E, et al: Unexplained extreme hyperbilirubinemia     189. Shih LY, Lee CT, See LC, et al: In vitro culture growth of erythroid progenitors and
                     among neonates in a multihospital healthcare system. Blood Cells Mol Dis 50(2):105,   serum erythropoietin assay in the differential diagnosis of polycythaemia. Eur J Clin
                     2013.                                                 Invest 28(7):569, 1998.
                    155. Pearson TC: Apparent polycythaemia. Blood Rev 5(4):205, 1991.    190. Prchal JT: Personal communication. 2009.
                    156. Chrysant SG, Frohlich ED, Adamopoulos PN, et al: Pathophysiologic significance of     191. Fisher MJ, Prchal JF, Prchal JT, et al: Anti-erythropoietin (EPO) receptor monoclonal
                     “stress” or relative polycythemia in essential hypertension. Am J Cardiol 37(7):1069,   antibodies distinguish EPO-dependent and EPO-independent erythroid progenitors in
                     1976.                                                 polycythemia vera. Blood 84(6):1982, 1994.
                    157. Isbister JP: The contracted plasma volume syndromes (relative polycythaemias) and     192. Kralovics R, Indrak K, Stopka T, et al: Two new EPO receptor mutations: Truncated
                     their haemorheological significance. Baillieres Clin Haematol 1(3):665, 1987.  EPO receptors are most frequently associated with primary familial and congenital
                    158. Leth A: Changes in plasma and extracellular fluid volumes in patients with essen-  polycythemias. Blood 90(5):2057, 1997.
                     tial hypertension during long-term treatment with hydrochlorothiazide.  Circulation     193. Acharya J, Westwood NB, Sawyer BM, et al: Identification of latent myeloproliferative
                     42(3):479, 1970.                                      disease in patients with Budd-Chiari syndrome using X-chromosome inactivation pat-
                    159. Prchal JT: Personal communication and direct experience with about 100 affected sub-  terns and in vitro erythroid colony formation. Eur J Haematol 55(5):315, 1995.
                     jects. 2009.                                         194. De Stefano V, Teofili L, Leone G, et al: Spontaneous erythroid colony formation as the
                    160. Queisser W, Heim ME, Schmitz JM, et al: [Idiopathic familial erythrocytosis. Report on   clue to an underlying myeloproliferative disorder in patients with Budd-Chiari syn-
                     a family with autosomal dominant inheritance] [in German]. Dtsch Med Wochenschr   drome or portal vein thrombosis. Semin Thromb Hemost 23(5):411, 1997.
                     113(21):851, 1988.                                   195. Pagliuca A, Mufti GJ, Janossa-Tahernia M, et al: In vitro colony culture and chromo-
                    161. Prchal JT, Semenza GL, Prchal J, et al: Familial polycythemia. Science 268(5219):1831,   somal studies in hepatic and portal vein thrombosis—Possible evidence of an occult
                     1995.                                                 myeloproliferative state. Q J Med 76(281):981, 1990.
                    162. Kralovics R, Sokol L, Prchal JT: Absence of polycythemia in a child with a unique     196. Valla D, Casadevall N, Lacombe C, et al: Primary myeloproliferative disorder and
                     erythropoietin receptor mutation in a family with autosomal dominant primary poly-  hepatic vein thrombosis. A prospective study of erythroid colony formation in vitro in
                     cythemia. J Clin Invest 102(1):124, 1998.             20 patients with Budd-Chiari syndrome. Ann Intern Med 103(3):329, 1985.
                    163. Arcasoy MO, Degar BA, Harris KW, et al: Familial erythrocytosis associated with a     197. Shih LY, Lee CT: Identification of masked polycythemia vera from patients with idio-
                     short deletion in the erythropoietin receptor gene. Blood 89(12):4628, 1997.  pathic marked thrombocytosis by endogenous erythroid colony assay. Blood 83(3):744,
                    164. Bushuev VI, Miasnikova GY, Sergueeva AI, et al: Endothelin-1, vascular endothelial   1994.
                     growth factor and systolic pulmonary artery pressure in patients with Chuvash poly-    198. Birgegard G, Wide L: Serum erythropoietin in the diagnosis of polycythaemia and after
                     cythemia. Haematologica 91(6):744, 2006.              phlebotomy treatment. Br J Haematol 81(4):603, 1992.
                    165. Gladwin MT: Polycythemia, HIF-1alpha and pulmonary hypertension in  Chuvash.     199. Messinezy M, Westwood NB, El-Hemaidi I, et al: Serum erythropoietin values in ery-
                     Haematologica 91(6):722, 2006.                        throcytoses and in primary thrombocythaemia. Br J Haematol 117(1):47, 2002.
                    166. Smith TG, Brooks JT, Balanos GM, et al: Mutation of von Hippel-Lindau tumour sup-    200. Mossuz P, Girodon F, Donnard M, et al: Diagnostic value of serum erythropoietin level
                     pressor and human cardiopulmonary physiology. PLoS Med 3(7):e290, 2006.  in patients with absolute erythrocytosis. Haematologica 89(10):1194, 2004.
                    167. Sable CA, Aliyu ZY, Dham N, et al: Pulmonary artery pressure and iron deficiency     201. Thurmes PJ, Steensma DP: Elevated serum erythropoietin levels in patients with Budd-
                     in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W)   Chiari syndrome secondary to polycythemia vera: Clinical implications for the role of
                     mutation (Chuvash polycythemia). Haematologica 97(2):193, 2012.  JAK2 mutation analysis. Eur J Haematol 77(1):57, 2006.
                    168. Zafren K and Honigman B: High-altitude medicine.  Emerg Med Clin North  Am     202. Remacha AF, Montserrat I, Santamaria A, et al: Serum erythropoietin in the diagnosis
                     15(1):191, 1997.                                      of polycythemia vera. A follow-up study. Haematologica 82(4):406, 1997.
                    169. Bishop BC: Wintering in the high Himalayas. Natl Geogr Mag 122:503, 1962.    203. Beutler E, Yeh M, Fairbanks VF: The normal human female as a mosaic of X-chromosome
                    170. Botella de Maglia J, Martinez-Costa R: [High altitude retinal hemorrhages in the   activity: Studies using the gene for C-6-PD-deficiency as a marker. Proc Natl Acad Sci U
                     expeditions to 8,000 meter peaks. A study of 10 cases] [in Spanish]. Med Clin (Barc)   S A 48:9, 1962.
                     110(12):457, 1998.                                   204. Adamson JW, Fialkow PJ, Murphy S, et al: Polycythemia vera: Stem-cell and probable
                    171. Beall CM, Song K, Elston RC, et al: Higher offspring survival among Tibetan women   clonal origin of the disease. N Engl J Med 295(17):913, 1976.
                     with high oxygen saturation genotypes residing at 4,000 m. Proc Natl Acad Sci U S A     205. Prchal JT: Pathogenetic mechanisms of polycythemia vera and congenital polycythemic
                     101(39):14300, 2004.                                  disorders. Semin Hematol 38(1 Suppl 2):10, 2001.
                    172. Beall CM: Oxygen saturation increases during childhood and decreases during adult-    206. Kralovics R, Guan Y, Prchal JT: Acquired uniparental disomy of chromosome 9p is a
                     hood among high altitude native Tibetians residing at 3,800-4,200 m. High Alt Med Biol   frequent stem cell defect in polycythemia vera. Exp Hematol 30(3):229, 2002.
                     1(1):25, 2000.                                       207. Chen GL, Prchal JT: X-linked clonality testing: Interpretation and limitations. Blood
                    173. Beall CM: Tibetan and Andean contrasts in adaptation to high-altitude hypoxia. Adv   110(5):1411, 2007.
                     Exp Med Biol 475:63, 2000.                           208. Curnutte JT, Hopkins PJ, Kuhl W, et al: Studying X inactivation. Lancet 339(8795):749,
                    174. Beall CM, Decker MJ, Brittenham GM, et al: An Ethiopian pattern of human adaptation   1992.
                     to high-altitude hypoxia. Proc Natl Acad Sci U S A 99(26):17215, 2002.    209. Allen RC, Zoghbi HY, Moseley AB, et al: Methylation of HpaII and HhaI sites near
                    175. Cote C, Zilberberg MD, Mody SH, et al: Haemoglobin level and its clinical impact in a   the polymorphic CAG repeat in the human androgen-receptor gene correlates with X
                     cohort of patients with COPD: Eur Respir J 29(5):923, 2007.  chromosome inactivation. Am J Hum Genet 51(6):1229, 1992.







          Kaushansky_chapter 57_p0871-0888.indd   887                                                                   9/18/15   9:37 AM
   907   908   909   910   911   912   913   914   915   916   917