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1.
Medicine (Baltimore) ; 99(27): e21092, 2020 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-32629741

RESUMO

RATIONALE: Univentricular dextrocardia is a rare congenital heart disease that usually presents cyanotic manifestations from childhood. Due to the sustained dysfunction of blood oxygenation, it is very difficult to keep an asymptomatic survival. Herein, we described an interesting case of univentricular dextrocardia who suffered from initial symptoms in his middle age. PATIENT CONCERNS: A 54-year-old male patient with numbness and tingling of limbs was admitted to hospital due to the secondary manifestations of congenital heart disease. DIAGNOSIS: The patient was diagnosed as univentricular dextrocardia with pulmonary hypertension and secondary erythrocytosis based on computed tomography (CT) scan, echocardiography, and laboratory examinations. INTERVENTIONS: Intravenous hydration therapy with normal saline successfully eliminated his hyperviscosity associated symptoms. In view of socio-economic reasons, this patient refused surgical evaluation and further medical interventions. OUTCOMES: During 18-month follow up, he received no drug except for regular water intake. Fortunately, his life quality was satisfactory, and no other symptoms emerged except for mild numbness of limbs. LESSONS: In univentricular dextrocardia, it is possible to keep a long-term asymptomatic period due to the slow progress of pathophysiology. In this population, regular cardiac function evaluation and avoiding dehydration may help improve the quality of life.


Assuntos
Desidratação/prevenção & controle , Dextrocardia/diagnóstico por imagem , Cardiopatias Congênitas/complicações , Assistência ao Convalescente , Grupo com Ancestrais do Continente Asiático/etnologia , Dextrocardia/fisiopatologia , Dextrocardia/terapia , Ecocardiografia/métodos , Hospitalização , Humanos , Hipertensão Pulmonar/etiologia , Masculino , Pessoa de Meia-Idade , Policitemia/etiologia , Policitemia/terapia , Qualidade de Vida , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
2.
Am J Clin Pathol ; 154(1): 33-37, 2020 06 08.
Artigo em Inglês | MEDLINE | ID: mdl-32134468

RESUMO

OBJECTIVES: To evaluate therapeutic phlebotomy (TP) requests for testosterone replacement therapy (TRT) and to highlight the impact to a blood center (BC) or service that provides TP for individuals on TRT. METHODS: Review of TP requests for individuals on TRT at our BC over a 3-year period from 2014 through 2016, as well as the total number of TP collections. RESULTS: Total TPs during 2014, 2015, and 2016 were 475, 500, and 569, respectively. Annual TP collections for patients on TRT were 193, 212, and 239, respectively. TRT patients with TP orders increased 71.4% during this period. After discontinuation of TP services for TRT at our BC, 32% continued to donate as volunteer blood donors at our BC. CONCLUSIONS: Our BC observed increased TP requests for patients on TRT from 2014 through 2016. Our findings suggest that individuals on TRT may be presenting to BCs as volunteer blood donors to avoid charges for TP.


Assuntos
Androgênios/efeitos adversos , Flebotomia/métodos , Policitemia/induzido quimicamente , Policitemia/terapia , Testosterona/efeitos adversos , Adulto , Doadores de Sangue , Humanos , Masculino , Pessoa de Meia-Idade , Policitemia/sangue
3.
Blood ; 135(15): 1199-1203, 2020 04 09.
Artigo em Inglês | MEDLINE | ID: mdl-32108223

RESUMO

The TEMPI syndrome is a rare and acquired disorder characterized by 5 salient features, which compose its name: (1) telangiectasias; (2) elevated erythropoietin and erythrocytosis; (3) monoclonal gammopathy; (4) perinephric fluid collections; and (5) intrapulmonary shunting. Complete resolution of symptoms following treatment with plasma cell-directed therapy supports the hypothesis that the monoclonal antibody is causal and pathogenic. Understanding the basis of the TEMPI syndrome will depend on the identification of additional patients and a coordinated international effort.


Assuntos
Eritropoetina/sangue , Pneumopatias/patologia , Paraproteinemias/patologia , Policitemia/patologia , Telangiectasia/patologia , Humanos , Pneumopatias/sangue , Pneumopatias/terapia , Paraproteinemias/sangue , Paraproteinemias/terapia , Policitemia/sangue , Policitemia/terapia , Síndrome , Telangiectasia/sangue , Telangiectasia/terapia
4.
Med. clín (Ed. impr.) ; 154(1): 16-19, ene. 2020. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-188679

RESUMO

La eritrocitaféresis terapéutica (ET) es una estrategia más eficiente que la flebotomía en la reducción del hematocrito en las eritrocitosis primarias y secundarias. Objetivo: Analizar la tasa de respuesta y seguridad de la ET en policitemia vera (PV) y eritrocitosis secundaria (ES). Pacientes y método: Revisión retrospectiva de los pacientes con PV o ES tratados con ET, ante el fracaso a flebotomías o con comorbilidades que impedían cambios importantes de volemia. Resultados: Se realizaron 127 sesiones de ET (48 PV y 79 ES) en 20 pacientes (12 ES y 8 PV). La respuesta se obtuvo en el 87,5% de PV y en el 50% de ES. La tasa de complicaciones fue del 7,08%. Conclusiones: A pesar del tamaño de nuestra muestra y la heterogeneidad clínica de nuestra serie, podemos postular que la ET reduce de manera segura los valores de hematocrito en menor tiempo que la flebotomía, especialmente en pacientes con PV y en casos seleccionados de ES en quienes se prevé intolerancia hemodinámica a la flebotomía o en quienes falla este método


Therapeutic erythrocytapheresis (TE) is a more efficient strategy compared to phlebotomy to deplete levels of haematocrit in primary and secondary erythrocytosis. Objective: To analyse response rate and safety profile of TE in polycythemia vera (PV) and secondary erythrocytosis (SE). Patients and method: Retrospective review of all patients with PV or SE treated with TE, due to phlebotomy failure, or comorbidities that prevented changes of blood volumen. Results: 217 TE sessions (48 PV and 79 SE) corresponding to 20 patients (12 ES and 8 PV). Response were achieved in 87.5% of PV patients and in 50% of SE patients. Adverse effects related to TE performance occurred in 7.08%. Conclusion: Despite our small sample size and the heterogeneous nature of the patients included, we can postulate that TE is a secure strategy that can achieve haematocrit depletion in a shorter time than phlebotomy, specifically in PV patients and in selected cases of SE with expected haemodynamic intolerance to phlebotomies or in patients who fail to respond to phlebotomies


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Citaferese/métodos , Policitemia/terapia , Policitemia Vera/terapia , Citaferese/estatística & dados numéricos , Policitemia/fisiopatologia , Policitemia Vera/fisiopatologia , Estudos Retrospectivos , Falha de Tratamento , Flebotomia/métodos
5.
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
6.
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
7.
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
8.
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
9.
J Stroke Cerebrovasc Dis ; 28(3): 850-852, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30595510

RESUMO

BACKGROUND: Polycythemia is a rare but important preventable cause of stroke with potential for recurrence when not identified and appropriately managed. CASE PRESENTATION: This is a case of a 55-year-old Ghanaian who presented to our tertiary facility after a 2-month delay with a history of sudden onset of right-sided hemiparesis and expressive aphasia. He had suffered a previous stroke with left hemiparesis 2 years previously where hypertension and polycythemia were identified and treatment initiated. However, patient defaulted treatment for 18 months prior to the onset of recurrent stroke. A cranial CT scan revealed chronic right and subacute left middle cerebral artery territorial infarcts. Presenting hematocrit was 71%. Treatments initiated included high dose hydroxyurea, venesections, and dual antiplatelet therapy of Aspirin and Clopidogrel. He has since been discharged and remains stable under follow-up with moderate functional deficits- Modified Rankin score of 3/6 and the hematocrit of 54% at 3 months postdischarge. CONCLUSIONS: Default of therapy for polycythemia is associated with a profound risk of recurrent strokes requiring patient education and support to prevent the devastating consequence of this modifiable but rare cause of stroke. This case report highlights the challenges of instituting secondary prevention for stroke in resource-limited settings.


Assuntos
Infarto da Artéria Cerebral Média/etiologia , Policitemia/complicações , Afasia de Broca/etiologia , Aspirina/administração & dosagem , Clopidogrel/administração & dosagem , Gana , Humanos , Hidroxiureia/administração & dosagem , Infarto da Artéria Cerebral Média/diagnóstico por imagem , Infarto da Artéria Cerebral Média/terapia , Masculino , Adesão à Medicação , Pessoa de Meia-Idade , Paresia/etiologia , Flebotomia , Inibidores da Agregação de Plaquetas/administração & dosagem , Policitemia/diagnóstico , Policitemia/terapia , Recidiva , Fatores de Risco , Tomografia Computadorizada por Raios X , Resultado do Tratamento
10.
Fetal Diagn Ther ; 45(1): 28-35, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29533957

RESUMO

Monochorionic twin pregnancies are at risk of unique complications due to placental sharing and vascular connections between placental territories assigned for each twin. Twin anemia-polycythemia sequence (TAPS) is an infrequent but potentially dangerous complication of abnormal placental vascular connections. TAPS occurs due to very-small-caliber (< 1 mm) abnormal placental vascular connections which lead to chronic anemia in the donor twin and polycythemia in the recipient twin. TAPS may occur spontaneously or following fetoscopic laser photocoagulation of communicating placental vessels for twin-twin transfusion syndrome. One of the hallmarks of TAPS is the absence of polyhydramnios and oligohydramnios. The postnatal diagnosis is based on significant hemoglobin discrepancy between the twins. Middle cerebral artery peak systolic velocity Doppler ultrasound allows for the prenatal diagnosis of TAPS. The optimal prenatal treatment and intervention timing has not been established. Here, we report 3 spontaneous TAPS cases diagnosed and managed in the prenatal period with a combination of in utero blood transfusion for the anemic twin (donor) and in utero partial exchange transfusion for the polycythemic twin (recipient). These cases contribute to the limited outcome data of this underutilized method for the management of TAPS.


Assuntos
Anastomose Arteriovenosa/fisiopatologia , Transfusão de Sangue Intrauterina , Transfusão Total , Transfusão Feto-Fetal/terapia , Placenta/irrigação sanguínea , Policitemia/terapia , Gêmeos Monozigóticos , Adulto , Anastomose Arteriovenosa/diagnóstico por imagem , Feminino , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/fisiopatologia , Humanos , Recém-Nascido , Nascimento Vivo , Circulação Placentária , Policitemia/diagnóstico por imagem , Policitemia/fisiopatologia , Gravidez , Resultado do Tratamento , Ultrassonografia Doppler , Ultrassonografia Pré-Natal/métodos
12.
J Med Case Rep ; 12(1): 381, 2018 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-30587223

RESUMO

BACKGROUND: Hypernatremia is a very common electrolyte disorder and is frequently encountered in out-patient as well as in-hospital settings. We describe an adult who was found to have unexplained relative polycythemia and episodic hypernatremia. A diagnosis of idiopathic hypodipsic-hypernatremia syndrome was made and the patient was managed with a water-drinking schedule. CASE PRESENTATION: A 24-year-old South African-Indian man was found to have polycythemia in association with episodes of hypernatremia. Investigations indicated that he had relative polycythemia. He experienced no thirst at a time when his serum sodium concentration was found to be 151 mmol/L. Further testing indicated that his renal response to arginine vasopressin was intact and magnetic resonance imaging of his brain revealed no hypothalamic lesions. A diagnosis of idiopathic hypodipsic-hypernatremia syndrome was made and he was managed with a water-drinking schedule that corrected his hypernatremia. CONCLUSION: Hypodipsia should always be considered when a patient without physical or cognitive disability presents with unexplained episodic hypernatremia or with relative polycythemia.


Assuntos
Ingestão de Líquidos , Hipernatremia/diagnóstico , Condutos Olfatórios/fisiopatologia , Policitemia/diagnóstico , Prolapso Retal/patologia , Água , Colonoscopia , Hidratação , Humanos , Hipernatremia/fisiopatologia , Hipernatremia/terapia , Masculino , Policitemia/fisiopatologia , Policitemia/terapia , Síndrome , Sede , Resultado do Tratamento , Água/administração & dosagem , Adulto Jovem
13.
Scand J Trauma Resusc Emerg Med ; 26(1): 104, 2018 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-30514343

RESUMO

BACKGROUND: Monitoring cardiac output (CO) in shocked patients provides key etiological information and can be used to guide fluid resuscitation to improve patient outcomes. Previously this relied on invasive monitoring, restricting its use in the Emergency Department (ED) setting. The development of non-invasive devices (such as LiDCOrapidv2 with CNAP™ and USCOM 1A), and ultrasound based measurements (Transthoracic echocardiography, inferior vena cava collapsibility index (IVCCI), carotid artery blood flow (CABF) and carotid artery corrected flow time (FTc)) enables stroke volume (SV) and CO to be measured non-invasively in the ED. We investigated the ability of these techniques to detect a change in CO resulting from a 500 ml reduction in circulating blood volume (CBV) following venesection in spontaneously breathing subjects. Additionally, we investigated if using incentive spirometry to standardise inspiratory effort improved the accuracy of IVC based measurements in spontaneously breathing subjects. METHODS: We recorded blood pressure, heart rate, IVCCI, CABF, FTc, transthoracic echocardiographic (TTE) SV and CO, USCOM 1A SV and CO, LIDCOrapidv2 SV, CO, Stroke volume variation (SVV) and pulse pressure variation (PPV) in 40 subjects immediately before and after venesection. The Log-Odds and coefficient of variation of the difference between pre- and post-venesection values for each technique were used to compare their ability to consistently detect CO changes resulting from a reduction in CBV resulting from venesection. RESULTS: TTE consistently detected a reduction in CO associated with venesection with an average decrease in measured CO of 0.86 L/min (95% CI 0.61 to 1.12) across subjects. None of the other investigated techniques changed in a consistent manner following venesection. The use of incentive spirometry improved the consistency with which IVC ultrasound was able to detect a reduction in CBV. CONCLUSIONS: In a population of spontaneously breathing patients, TTE is able to consistency detect a reduction in CO associated with venesection.


Assuntos
Volume Sanguíneo/fisiologia , Débito Cardíaco/fisiologia , Técnicas de Diagnóstico Cardiovascular , Hemocromatose/terapia , Flebotomia/métodos , Policitemia/terapia , Adulto , Idoso , Pressão Sanguínea/fisiologia , Técnicas de Diagnóstico Cardiovascular/instrumentação , Ecocardiografia , Feminino , Hemodinâmica , Humanos , Masculino , Pessoa de Meia-Idade , Respiração , Espirometria , Volume Sistólico/fisiologia , Veia Cava Inferior/diagnóstico por imagem , Veia Cava Inferior/fisiologia
14.
Can Vet J ; 59(9): 993-996, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30197443

RESUMO

The echocardiographic findings of a young Pomeranian-cross dog with tetralogy of Fallot, patent foramen ovale, and tricuspid valve dysplasia are described. Ongoing medical management of hypoxemia and erythrocytosis was carried out and the dog survived to 2 years of age. Treatment options for tetralogy of Fallot are discussed.


Assuntos
Doenças do Cão/congênito , Forame Oval Patente/veterinária , Tetralogia de Fallot/veterinária , Animais , Cães , Ecocardiografia/métodos , Ecocardiografia/veterinária , Forame Oval Patente/diagnóstico por imagem , Hipóxia/terapia , Hipóxia/veterinária , Masculino , Policitemia/terapia , Policitemia/veterinária , Tetralogia de Fallot/diagnóstico por imagem , Tetralogia de Fallot/terapia , Valva Tricúspide/anormalidades
15.
Clin Lymphoma Myeloma Leuk ; 18(11): 724-730, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30100329

RESUMO

TEMPI (telangiectasias, erythrocytosis with elevated erythropoietin, monoclonal gammopathy, perinephric fluid collections, intrapulmonary shunting) syndrome is a newly described clinical entity that is generally considered a plasma cell dyscrasia with multiple system involvement. The etiology and pathophysiology of this condition remains elusive. Nevertheless, clonal plasma cells and monoclonal protein appear to be major contributors. The early diagnosis of TEMPI syndrome is essential because therapies targeting the underlying plasma cells can lead to a dramatic response. Bortezomib-based chemotherapy, daratumumab monotherapy, and autologous hematopoietic stem cell transplantation can result in reversal of most manifestations. Nevertheless, the diagnosis of TEMPI syndrome remains a substantial challenge owing to its rarity and the complexity of clinical presentations. TEMPI syndrome is often misdiagnosed as other causes of erythrocytosis, resulting in a delayed diagnosis and further clinical deterioration. The aim of the present review was to present the clinical and biologic features of TEMPI syndrome, highlighting the differential diagnosis and outlining the present understanding of its pathophysiology and treatment.


Assuntos
Neoplasias de Plasmócitos/patologia , Paraproteinemias/patologia , Policitemia/patologia , Telangiectasia/patologia , Transplante de Células-Tronco Hematopoéticas , Humanos , Neoplasias de Plasmócitos/complicações , Neoplasias de Plasmócitos/terapia , Paraproteinemias/complicações , Paraproteinemias/terapia , Policitemia/complicações , Policitemia/terapia , Prognóstico , Síndrome , Telangiectasia/complicações , Telangiectasia/terapia , Transplante Autólogo
16.
BMC Pediatr ; 18(1): 234, 2018 07 18.
Artigo em Inglês | MEDLINE | ID: mdl-30021580

RESUMO

BACKGROUND: Delayed cord clamping is the standard of care in infants not requiring resuscitation; however effects of cord clamping strategies have not been evaluated systematically in small for gestational age (SGA) infants. The primary objective was to compare effects of delayed cord clamping (DCC) and early cord clamping (ECC) on serum ferritin at 3 months in SGA infants born at ≥35 weeks. The secondary objectives were to compare hematological parameters, clinical outcomes in neonatal period and growth at 3 months of age. METHODS: All eligible infants with fetal growth restriction were randomized to two groups, DCC at 60 s or ECC group in which the cord was clamped immediately after birth. RESULTS: Total of 142 infants underwent randomization and subsequently 113 infants underwent definite inclusion. At 3 months, the median (IQR) serum ferritin levels were higher in DCC group, compared to ECC; 86 ng/ml (43.35-134.75) vs 50.5 ng/ml (29.5-83.5), p = 0.01. Fewer infants had iron deficiency in DCC group compared to ECC group; 9 (23.6%) vs 21 (47.7%), p = 0.03 [NNT being 4; 95% CI (2-25)].The proportion of infants with polycythemia was significantly higher in DCC group; 23 (41.81) % vs 12 (20.6%), p = 0.01. There was no difference in proportion of infants with symptomatic polycythemia or those who underwent partial exchange transfusions. Clinical outcomes and mortality were similar. CONCLUSIONS: DCC improves iron stores in SGA infants ≥35 weeks at 3 months of age without increasing the risk of symptomatic polycythemia, need for partial exchange transfusions or morbidities associated with polycythemia. TRIAL REGISTRATION: Our trial was retrospectively registered on 29th May 2015 through Clinical trials registry India. Registration number: CTRI 2015/05/005828 .


Assuntos
Parto Obstétrico/métodos , Ferritinas/sangue , Recém-Nascido Pequeno para a Idade Gestacional/metabolismo , Cordão Umbilical , Anemia Ferropriva/etiologia , Constrição , Transfusão Total , Feminino , Hematócrito , Hemoglobinas/metabolismo , Humanos , Hiperbilirrubinemia/etiologia , Índia , Recém-Nascido , Masculino , Policitemia/etiologia , Policitemia/terapia , Fatores de Risco , Fatores de Tempo
17.
Curr Hematol Malig Rep ; 13(3): 173-182, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29713873

RESUMO

PURPOSE OF REVIEW: The purpose of this review is to help doctors in the management of patients with post-polycythemia (PPV) and post-essential thrombocythemia (PET) myelofibrosis (MF) facing diagnostic criteria, prognostication, and treatment possibilities. RECENT FINDINGS: Diagnostic criteria of primary myelofibrosis (PMF) have been recently updated from the WHO classification. A clear-cut distinction between pre-fibrotic and overt PMF has been done. Concerning PPV and PET MF, the criteria come from 2008. Prognostication of PMF has been well established on clinical criteria, but recent molecular acquisitions will improve the strategy. For PPV and PET MF, the new MYSEC-PM is helpful for prediction of survival. JAK2-inhibitors and stem cell transplant are the two critical therapeutic approaches in myelofibrosis. Differences between PMF and SMF substantiate the efforts underway to adequately stratify SMF patients with ad hoc prognostic tools and to use such categorization to evaluate available treatment modalities.


Assuntos
Policitemia , Mielofibrose Primária , Trombocitemia Essencial , Humanos , Policitemia/sangue , Policitemia/complicações , Policitemia/diagnóstico , Policitemia/terapia , Mielofibrose Primária/sangue , Mielofibrose Primária/diagnóstico , Mielofibrose Primária/etiologia , Mielofibrose Primária/terapia , Prognóstico , Trombocitemia Essencial/sangue , Trombocitemia Essencial/complicações , Trombocitemia Essencial/diagnóstico , Trombocitemia Essencial/terapia
18.
Int J Cardiol ; 267: 79-83, 2018 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-29807779

RESUMO

BACKGROUND: Secondary erythrocytosis is common in patients with cyanosis secondary to congenital heart disease (CHD) and/or pulmonary hypertension (PH). This compensatory mechanism aims at increasing oxygen delivery to the tissues, but it requires adequate iron stores. Optimal methods of iron supplementation in this setting remain controversial, with fears of excessive erythropoiesis and hyperviscosity symptoms. We describe our experience using intravenous ferrous carboxymaltose. METHODS AND RESULTS: 142 consecutive cyanotic patients were treated over 5.7 years (201 administrations). Mean age was 51.3 ±â€¯17.6 years and 55 (38.7%) were male. Eisenmenger syndrome (ES) was present in 41 (28.8%), other pulmonary arterial hypertension (PAH) related to CHD (PAH-CHD) in 27 (19.0%), cyanotic CHD without PAH in 16 (11.3%) and PH without CHD in 58(40.8%). Baseline haemoglobin (Hb) concentration was 14.6 ±â€¯3.0 g/dL and haematocrit 0.45 ±â€¯0.09. A 500 mg dose of intravenous (IV) iron carboxymaltose was given in 163 (81.1%) of administrations and a 1000 mg dose in 37 (18.4%). A significant improvement in average Hb, haematocrit, ferritin and transferrin saturation was observed after a median follow-up of 100.0 [70.0-161.0] days (p ≤ 0.0001 for all). There were no cases of excessive erythropoiesis resulting in new hyperviscosity symptoms and/or requiring venesection. A minor transient rash was observed in 2 patients and one patient experienced an air embolus causing a transient ischemic attack. CONCLUSIONS: Intravenous ferrous carboxymaltose appears to be safe in iron deficient patients with cyanosis due to CHD and/or PH, as long as care is taken to avoid air emboli. Further randomised studies are needed to confirm the safety and efficacy of intravenous iron in this setting.


Assuntos
Compostos Férricos , Cardiopatias Congênitas , Hipertensão Pulmonar , Ferro , Maltose/análogos & derivados , Policitemia , Administração Intravenosa , Adulto , Idoso , Monitoramento de Medicamentos/métodos , Eritropoese/efeitos dos fármacos , Feminino , Compostos Férricos/administração & dosagem , Compostos Férricos/efeitos adversos , Cardiopatias Congênitas/sangue , Cardiopatias Congênitas/complicações , Hematínicos/administração & dosagem , Hematínicos/efeitos adversos , Testes Hematológicos/métodos , Humanos , Hipertensão Pulmonar/sangue , Hipertensão Pulmonar/complicações , Ferro/administração & dosagem , Ferro/efeitos adversos , Ferro/deficiência , Masculino , Maltose/administração & dosagem , Maltose/efeitos adversos , Pessoa de Meia-Idade , Policitemia/diagnóstico , Policitemia/etiologia , Policitemia/terapia , Estudos Retrospectivos , Resultado do Tratamento , Reino Unido
19.
Int J Hematol ; 108(3): 339-343, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29623657

RESUMO

A 10-year-old girl with persistent erythrocytosis and ruddy complexion was diagnosed with primary familial congenital polycythemia (PFCP) involving a novel heterozygous mutation of c.1220C>A, p.Ser407X in exon 8 of the erythropoietin receptor gene (EPOR). This mutation causes truncation of EPOR, resulting in loss of the cytoplasmic region, which is necessary for negative regulation of erythropoietin signal transmission. Genetic analysis showed that the mutated EPOR was inherited from her mother. Her mother had polycythemia and had undergone venesection several times when she was young, but her polycythemic state appeared to have resolved. Venesection was not needed to maintain Hct levels within normal range. For the case reported here, venesection was also conducted to maintain the blood Hct level below 50%. We observed that after the patient experienced menarche, the volume and frequency of venesection needed to maintain Hct level < 50% were clearly reduced compared with those before menarche. These findings suggest that, in female patients with this type of EPOR mutation, menstruation might reduce blood volume in a manner similar to venesection. Spontaneous remission of erythrocytosis may thus occur after the start of menstrual bleeding.


Assuntos
Hemorragia , Menstruação/fisiologia , Mutação/genética , Fragmentos de Peptídeos/genética , Policitemia/genética , Policitemia/terapia , Receptores da Eritropoetina/genética , Volume Sanguíneo , Criança , Éxons/genética , Feminino , Humanos , Flebotomia , Policitemia/congênito , Policitemia/diagnóstico , Remissão Espontânea
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