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1.
Intern Med ; 59(14): 1741-1744, 2020 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-32295999

RESUMO

TEMPI syndrome, a disease entity comprising telangiectasia, erythrocytosis with high erythropoietin, monoclonal gammopathy, perinephric fluid collection, and intrapulmonary shunting, was first described by Sykes et al. in 2011. To our knowledge, only 15 cases have been reported worldwide, none of which were in Japan. We herein report a 47-year-old man who had intractable ascites for 2 and a half years and was referred to our department for a peritoneovenous shunt. In addition to ascites, he had telangiectasia, high erythropoietin, monoclonal gammopathy, and perinephric fluid collection. Thus, this is the first case of TEMPI syndrome in Japan.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Antineoplásicos/uso terapêutico , Bortezomib/uso terapêutico , Gamopatia Monoclonal de Significância Indeterminada/tratamento farmacológico , Policitemia/tratamento farmacológico , Telangiectasia/tratamento farmacológico , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Gamopatia Monoclonal de Significância Indeterminada/diagnóstico , Gamopatia Monoclonal de Significância Indeterminada/epidemiologia , Policitemia/diagnóstico , Policitemia/epidemiologia , Telangiectasia/diagnóstico , Telangiectasia/epidemiologia , Resultado do Tratamento
3.
Fetal Diagn Ther ; 47(2): 123-128, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31261154

RESUMO

OBJECTIVE: The aim of this study was to evaluate the differences in leukocyte counts at birth between donors and recipients with twin-twin transfusion syndrome (TTTS) or twin anemia-polycythemia sequence (TAPS). METHODS: We performed a retrospective cohort study in monochorionic twin pairs with TTTS or TAPS. TTTS and TAPS cases treated with fetoscopic laser surgery were excluded. Primary outcome was the difference in leukocyte levels at birth between donor and recipient twins and the presence of leukopenia (defined as leukocyte count <4 × 109/L). Secondary outcomes included early-onset sepsis, necrotizing enterocolitis, use of antibiotics during admission, and neonatal mortality. RESULTS: We included 99 twins pairs, of which 61 twin pairs were affected by TAPS and 38 twin pairs by TTTS. The mean leukocyte count at birth in donors and recipients was 7.5 × 109/L versus 7.4 × 109/L (p = 0.936), respectively. Leukopenia was significantly more common in donor twins compared to recipient twins (7.1% [7/99] vs. 0% [0/99], p = 0.016). Of the 7 donors with leukopenia, 6 were affected by TAPS and 1 by TTTS. Overall, donors were more often affected by early-onset sepsis than recipients, 23.7% (23/97) versus 13% (13.7/95) (p = 0.049), respectively. CONCLUSIONS: Leukocyte counts at birth in twins with TTTS or TAPS are similar between donors and recipients, but TAPS donors are at an increased risk of leukopenia. Overall, TTTS and TAPS donors seem to be at an increased risk of early-onset neonatal sepsis compared to recipient twins.


Assuntos
Anemia/sangue , Transfusão Feto-Fetal/sangue , Policitemia/sangue , Gêmeos Monozigóticos , Anemia/complicações , Anemia/diagnóstico , Anemia/mortalidade , Biomarcadores/sangue , Feminino , Transfusão Feto-Fetal/complicações , Transfusão Feto-Fetal/diagnóstico , Transfusão Feto-Fetal/mortalidade , Humanos , Lactente , Recém-Nascido , Contagem de Leucócitos , Leucopenia/etiologia , Sepse Neonatal/etiologia , Policitemia/complicações , Policitemia/diagnóstico , Valor Preditivo dos Testes , Gravidez , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco
4.
J Vet Emerg Crit Care (San Antonio) ; 30(1): 81-85, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31840932

RESUMO

BACKGROUND: Point-of-care (POC) portable blood glucose meters (PBGMs) are convenient and inexpensive tools for assessing patient blood glucose concentrations. They are often used to quickly diagnose hypoglycemia or collect serial glucose readings in diabetic patients. However, POC meters have been previously identified in human and veterinary literature to be inaccurate when utilized in patients with abnormal HCT. This problem may not be reflected in manufacturer guidelines referenced by practitioners in the POC setting. KEY FINDINGS: A 1.5-year-old dog, previously diagnosed with multiple congenital cardiac malformations, right-to-left cardiac shunting and secondary erythrocytosis, presented to a veterinary emergency center minimally responsive and without detectable pulses. PBGM measurement identified hypoglycemia. Following stabilization of the dog, serial glucose assessments showed discordant results between PBGMs and the reference laboratory biochemistry analyzer. A pathological cause for hypoglycemia was not identified and PBGM readings were determined to be erroneously low due to the dog's abnormally high HCT. SIGNIFICANCE: This case demonstrates the limitations of using PBGMs to assess blood glucose in a dog with secondary erythrocytosis. The report emphasizes the need for judicious use of PBGMs in critically ill patients and that these glucometers may not be reliable in patients with abnormal HCT values.


Assuntos
Glicemia , Doenças do Cão/diagnóstico , Cardiopatias Congênitas/veterinária , Hipoglicemia/veterinária , Policitemia/veterinária , Animais , Automonitorização da Glicemia/veterinária , Diagnóstico Diferencial , Doenças do Cão/sangue , Cães , Feminino , Hipoglicemia/sangue , Hipoglicemia/complicações , Hipoglicemia/diagnóstico , Sistemas Automatizados de Assistência Junto ao Leito , Policitemia/sangue , Policitemia/complicações , Policitemia/diagnóstico
5.
Acta Haematol ; 143(1): 69-72, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31167179

RESUMO

This original report describes the management of a pregnant woman with congenital erythrocytosis (Chuvash polycythaemia) and reviews the scarce data available in the literature. Therapy consisted of low-dose aspirin and phlebotomies to maintain haematocrit <50% while monitoring iron stores to avoid severe deficiency detrimental to the foetus. Despite normal initial foetal growth, the pregnancy was complicated by preterm birth due to chorioamnionitis. The placenta showed no signs of thrombotic events. The published reports cover 13 pregnancies in 8 patients, showing 1 first-trimester miscarriage, 5 infants with intrauterine growth restriction and/or preterm birth and 1 maternal thrombotic event. These cases were managed with phlebotomies, low-dose aspirin and/or low-molecular-weight heparin, although inconsistently.


Assuntos
Policitemia/congênito , Adulto , Aspirina/uso terapêutico , Feminino , Ferritinas/análise , Heparina de Baixo Peso Molecular/uso terapêutico , Homozigoto , Humanos , Ferro/administração & dosagem , Policitemia/diagnóstico , Policitemia/tratamento farmacológico , Polimorfismo de Nucleotídeo Único , Gravidez , Nascimento Prematuro , Proteína Supressora de Tumor Von Hippel-Lindau/genética
6.
Hematology Am Soc Hematol Educ Program ; 2019(1): 391-396, 2019 12 06.
Artigo em Inglês | MEDLINE | ID: mdl-31808840

RESUMO

In the patient presenting with an elevated blood count who does not have an acquired clonal disorder causing a myeloproliferative neoplasm, hereditary erythrocytosis or hereditary thrombocytosis needs to be considered as a possible explanation. A young patient and/or those with a family history of myeloproliferative neoplasm should specifically raise this possibility. Among the causes of hereditary erythrocytosis are mutations in the genes in the oxygen sensing pathway and high-affinity hemoglobins. Hereditary thrombocytosis has been shown to be accounted for by mutations in THPO, MPL, and JAK2 genes. In those who have a possible hereditary erythrocytosis or thrombocytosis, the investigative pathway includes specific investigation to rule out the more common acquired clonal disorders, and, if indicated, other secondary causes, measurement of specific cytokines as indicated, and search for specific identified molecular lesions that have been shown to cause these hereditary disorders. There remain individuals who appear to have a hereditary disorder in whom a genetic lesion cannot currently be identified.


Assuntos
Doenças Genéticas Inatas , Janus Quinase 2/genética , Mutação , Policitemia , Receptores de Trombopoetina/genética , Trombocitose , Adulto , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/patologia , Humanos , Masculino , Policitemia/diagnóstico , Policitemia/genética , Policitemia/patologia , Trombocitose/diagnóstico , Trombocitose/genética , Trombocitose/patologia
7.
Dis Markers ; 2019: 5946461, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31827636

RESUMO

Background: The hypoxic conditions at high altitudes are great threats to survival, causing pressure for adaptation. More and more high-altitude denizens are not adapted with the condition known as high-altitude polycythemia (HAPC) that featured excessive erythrocytosis. As a high-altitude sickness, the etiology of HAPC is still unclear. Methods: In this study, we reported the whole-genome sequencing-based study of 10 native Tibetans with HAPC and 10 control subjects followed by genotyping of selected 21 variants from discovered single nucleotide variants (SNVs) in an independent cohort (232 cases and 266 controls). Results: We discovered the egl nine homologue 3 (egln3/phd3) (14q13.1, rs1346902, P = 1.91 × 10-5) and PPP1R2P1 (Protein Phosphatase 1 Regulatory Inhibitor Subunit 2) gene (6p21.32, rs521539, P = 0.012). Our results indicated an unbiased framework to identify etiological mechanisms of HAPC and showed that egln3/phd3 and PPP1R2P1 may be associated with the susceptibility to HAPC. Egln3/phd3b is associated with hypoxia-inducible factor subunit α (HIFα). Protein Phosphatase 1 Regulatory Inhibitor is associated with reactive oxygen species (ROS) and oxidative stress. Conclusions: Our genome sequencing conducted in Tibetan HAPC patients identified egln3/phd3 and PPP1R2P1 associated with HAPC.


Assuntos
Doença da Altitude/diagnóstico , Biomarcadores/análise , Prolina Dioxigenases do Fator Induzível por Hipóxia/genética , Policitemia/diagnóstico , Polimorfismo de Nucleotídeo Único , Proteína Fosfatase 1/genética , Sequenciamento Completo do Genoma/métodos , Adulto , Idoso , Doença da Altitude/epidemiologia , Doença da Altitude/genética , Estudos de Casos e Controles , Feminino , Seguimentos , Genoma Humano , Genótipo , Humanos , Hipóxia , Masculino , Pessoa de Meia-Idade , Policitemia/epidemiologia , Policitemia/genética , Prognóstico , Tibet/epidemiologia
8.
Eur J Haematol ; 103(4): 287-299, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31376207

RESUMO

Familial erythrocytosis (FE) is a congenital disorder, defined by elevated red blood cell number, hemoglobin, and hematocrit. Among eight types of FE, type 4 is caused by variants in the EPAS1 gene. Two other hypoxia-inducible factor alpha (HIFA) subunits, HIF1A and HIF3A, have not yet been associated with medical history of FE, but have potential role in the development of erythrocytosis. To improve diagnosis, it is crucial to identify new variants in genes involved in erythrocyte production. Published literature and data from genome browsers were used to obtain HIFA sequence variants associated with erythrocytosis and to locate them on protein sequence and regulatory sites. We retrieved 24 variants from the literature: 2 in HIF1A, 20 in EPAS1 and 2 in HIF3A gene. Sixteen out of 20 variants in the EPAS1 gene are positioned in a conserved region of 13 amino acids within exon 12, next to regulatory post-translational modification and binding sites, suggesting that EPAS1 has an important role in erythropoiesis. The role of HIF1A and HIF3A in the development of erythrocytosis should be further investigated.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Policitemia/congênito , Proteínas Reguladoras de Apoptose/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Bases de Dados Genéticas , Genômica/métodos , Humanos , Policitemia/diagnóstico , Policitemia/genética , Policitemia/terapia , Proteínas Repressoras/genética
9.
Semin Pediatr Surg ; 28(4): 150825, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31451170

RESUMO

The increase in multiple gestation pregnancies has resulted in significant health care implications for both mother and child. Our ability to diagnose and intervene on an at-risk multi-gestation pregnancy has dramatically improved. It is important for the pediatric surgeon to be equipped with a basic fund of knowledge concerning these pregnancies. An understanding of amnionicity and chorionicity will equip the practitioner with the ability to identify which pregnancies are at risk for specific complications. This article highlights multi-gestation pregnancies that are monochorionic (single shared placenta) and can be complicated by twin-twin transfusion syndrome (TTTS), twin reversed arterial perfusion (TRAP) sequence, twin anemia polycythemia sequence (TAPS), or selective fetal intrauterine growth restriction (sIUGR). The risk of fetal demise is significant in these pregnancies. Understanding recommended surveillance and warning signs can alert surgeons to developing complications. Specialized fetal care centers possess the ability to intervene on these pregnancies in utero.


Assuntos
Retardo do Crescimento Fetal , Transfusão Feto-Fetal , Anemia/diagnóstico , Anemia/etiologia , Anemia/terapia , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/terapia , Transfusão Feto-Fetal/diagnóstico , Transfusão Feto-Fetal/cirurgia , Fetoscopia , Humanos , Fotocoagulação , Policitemia/diagnóstico , Policitemia/etiologia , Policitemia/terapia , Gravidez , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal
10.
Am J Physiol Heart Circ Physiol ; 317(5): H991-H1001, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31441692

RESUMO

Excessive erythrocytosis [EE; hemoglobin concentration (Hb) ≥ 21 g/dL in adult men] is a maladaptive high-altitude pathology associated with increased cardiovascular risk and reduced reactive hyperemia flow-mediated dilation (FMD); however, whether a similar impairment occurs in response to more commonly encountered sustained increases in shear stress [sustained stimulus (SS)-FMD] over a range of overlapping stimuli is unknown. We characterized SS-FMD in response to handgrip exercise in Andeans with and without EE in Cerro de Pasco, Peru (4,330 m). Andean highlanders with EE (n = 17, Hb = 23.2 ± 1.2 g/dL) and without EE (n = 23, Hb = 18.7 ± 1.9 g/dL) performed 3 min of rhythmic handgrip exercise at 20, 35, and 50% of maximum voluntary contraction (MVC). Duplex ultrasound was used to continuously record blood velocity and diameter in the brachial artery, and blood viscosity was measured to accurately calculate shear stress. Although baseline shear stress did not differ, Andeans with EE had 22% lower shear stress than Andeans without at 50% MVC (P = 0.004). At 35 and 50% MVC, SS-FMD was 2.1 ± 2.0 and 2.8 ± 2.7% in Andeans with EE compared with 4.1 ± 3.4 and 7.5 ± 4.5% in those without (P = 0.048 and P < 0.001). The stimulus-response slope (∆shear stress vs. ∆diameter) was lower in Andeans with EE compared with Andeans without (P = 0.028). This slope was inversely related to Hb in Andeans with EE (r2 = 0.396, P = 0.007). A reduced SS-FMD in response to small muscle mass exercise in Andeans with EE indicates a generalized reduction in endothelial sensitivity to shear stress, which may contribute to increased cardiovascular risk in this population.NEW & NOTEWORTHY High-altitude excessive erythrocytosis (EE; hemoglobin concentration ≥ 21 g/dL) is a maladaptation to chronic hypoxia exposure and is associated with increased cardiovascular risk. We examined flow-mediated dilation (FMD) in response to sustained elevations in shear stress achieved using progressive handgrip exercise [sustained stimulus (SS)-FMD] in Andean highlanders with and without EE at 4,330 m. Andeans with EE demonstrated lower SS-FMD compared with those without. Heightened hemoglobin concentration was related to lower SS-FMD in Andeans with EE.


Assuntos
Aclimatação , Doença da Altitude/fisiopatologia , Altitude , Artéria Braquial/fisiopatologia , Policitemia/fisiopatologia , Vasodilatação , Adulto , Doença da Altitude/sangue , Doença da Altitude/diagnóstico por imagem , Biomarcadores/sangue , Velocidade do Fluxo Sanguíneo , Viscosidade Sanguínea , Artéria Braquial/diagnóstico por imagem , Estudos de Casos e Controles , Força da Mão , Hemoglobinas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Contração Muscular , Peru , Policitemia/sangue , Policitemia/diagnóstico , Fluxo Sanguíneo Regional , Estresse Mecânico , Fatores de Tempo , Ultrassonografia Doppler Dupla
15.
Eur J Haematol ; 103(1): 64-66, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31038790

RESUMO

In secondary erythrocytosis, the elevated red cell count is powered by factors outside the erythroid compartment, for instance by raised erythropoietin (EPO) synthesis based on congenital defects of the oxygen-sensing pathway. The principal transcriptional regulator of EPO synthesis is endothelial PAS domain-containing protein 1 (EPAS 1). We present here the first report of a patient with erythrocytosis involving a mutation of amino acid 525 in EPAS1. The p.Asp525His mutation affects a residue that is farthermost from primary functional site Pro-531 of any of the erythrocytosis-related mutations that have been identified up to now.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Éxons , Mutação , Policitemia/diagnóstico , Policitemia/genética , Alelos , Substituição de Aminoácidos , Índices de Eritrócitos , Expressão Gênica , Genótipo , Humanos , Flebotomia , Policitemia/terapia , Resultado do Tratamento
16.
Eur J Haematol ; 103(2): 124-130, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31132167

RESUMO

OBJECTIVE: To evaluate the spectrum of genetic defects in Indian patients with unexplained erythrocytosis. METHODS: Fifteen families (18 patients) with unexplained erythrocytosis were enrolled after excluding polycythemia vera and secondary erythrocytosis. Focused Sanger sequencing from genomic DNA was performed for EPOR (exon 8), VHL (exons 2-3), EGLN1 (exons 2-5), EPAS1 (exon 12), and all exons of HBB, HBA1, and HBA2 genes. RESULTS: Eleven of the 18 patients (including two pairs of brothers) had Chuvash polycythemia, that is, homozygosity for VHL:c.598C > T (p.Arg200Trp). Three patients (two of whom were brothers) had HBB mutations associated with increased oxygen-affinity hemoglobin-one had a heterozygous Hb McKees Rocks HBB:c.438T > A (p.Tyr146*), and two brothers showed heterozygous Hb Rainier HBB:c.437A > G (p.Tyr146Cys). No pathogenic variants were found in the remaining four cases. CONCLUSION: A gene-by-gene Sanger sequencing approach could determine a genetic basis for erythrocytosis in 11 of the 15 (73%) Indian families, with homozygous VHL:c.598C > T (p.Arg200Trp) being the commonest pathogenic variant. This first study from the Indian subcontinent provides a rationale for analyzing this variant in patients with suspected congenital erythrocytosis from this region. Rare first occurrences of Hb McKees Rocks and Hb Rainier in Indians are also being reported.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Policitemia/diagnóstico , Policitemia/genética , Adolescente , Adulto , Alelos , Substituição de Aminoácidos , Biomarcadores , Criança , Feminino , Estudos de Associação Genética/métodos , Genótipo , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Mutação , Policitemia/congênito , Policitemia/terapia , Avaliação de Sintomas , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Adulto Jovem
17.
Int J Lab Hematol ; 41 Suppl 1: 89-94, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31069987

RESUMO

Multiple algorithms have been published for the evaluation of hereditary erythrocytosis (HE). Typical entry points begin after excluding the more common acquired conditions through investigations of clinical history and assessment of cardiac, pulmonary, or vascular system disorders. Prior exclusion of JAK2 mutations, particularly the common JAK2 V617F mutation, is indicated in adults but less so in pediatric populations. Key decision trees are based on serum erythropoietin levels and p50 results. Recent data reveal some overlap in clinical presentation and laboratory findings in erythrocytosis. Caveats to consider when using algorithmic approaches are discussed.


Assuntos
Algoritmos , Eritropoetina , Janus Quinase 2 , Mutação de Sentido Incorreto , Policitemia/congênito , Transdução de Sinais , Substituição de Aminoácidos , Eritropoetina/sangue , Eritropoetina/genética , Humanos , Janus Quinase 2/sangue , Janus Quinase 2/genética , Policitemia/sangue , Policitemia/diagnóstico , Policitemia/genética
19.
J Obstet Gynaecol Res ; 45(6): 1201-1204, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30821075

RESUMO

We report a case of twin anemia-polycythemia sequence with blood chimerism in monochorionic dizygotic twins born to a 30-year-old woman who conceived via ovulation induction. The neonates developed twin anemia-polycythemia sequence; the female twin had anemia and the male had polycythemia. We detected blood chimerism using fluorescence in situ hybridization (FISH). Twin anemia-polycythemia sequence carries not only perinatal risks, but also genetic and immunological implications due to blood chimerism. Although previous reports have described twin-to-twin transfusion syndrome in monochorionic dizygotic twins, we report the first case of twin anemia-polycythemia sequence in monochorionic dizygotic twins.


Assuntos
Anemia Neonatal/diagnóstico , Quimerismo , Doenças em Gêmeos/diagnóstico , Policitemia/diagnóstico , Gêmeos Dizigóticos , Adulto , Córion , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez
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