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[PMID]:28470719
[Au] Autor:Ballas SK
[Ad] Endereço:Cardeza Foundation for Hematologic Research, Department of Medicine, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.
[Ti] Título:From total blood exchange to erythrocytapheresis and back to treat complications of sickle cell disease.
[So] Source:Transfusion;57(9):2277-2280, 2017 09.
[Is] ISSN:1537-2995
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Erythrocytapheresis is an important procedure in the management of certain complications of sickle cell disease, including acute stroke, stroke prevention, acute chest syndrome, and multiorgan failure. Erythrocytapheresis in sickle cell disease simply entails the removal of the patient's red blood cells containing the abnormal sickle hemoglobin and replacing them with normal red blood cells carrying normal hemoglobin. In these procedures, the patient's plasma is not exchanged but is returned to the patient. Several studies have demonstrated that the plasma of patients with sickle cell disease contains several components that increase blood viscosity and initiate or promote vaso-occlusion. These factors include increased levels of globulins, especially immunoglobulin G, acute-phase reactants, fibrinogen, coagulation factors, inflammatory mediators, and heme in the steady state and increase further during painful crises. This may explain why, in certain complications of sickle cell disease, such as acute chest syndrome, hepatic crisis, and priapism, erythrocytapheresis by itself may not be effective despite repetitive cycles of red blood cell exchange. The use of therapeutic plasma exchange in addition to erythrocytapheresis in these situations seems to be useful in resolving them more efficiently. The role of therapeutic plasma exchange in the management of certain complications of sickle cell disease needs further evaluation. This commentary addresses the role of therapeutic plasma exchange in the management of complications of sickle cell disease.
[Mh] Termos MeSH primário: Anemia Falciforme/terapia
Citaferese/métodos
Transfusão Total/métodos
[Mh] Termos MeSH secundário: Anemia Falciforme/complicações
Viscosidade Sanguínea
Gerenciamento Clínico
Eritrócitos
Seres Humanos
Troca Plasmática/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1710
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1111/trf.14154


  2 / 17359 MEDLINE  
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[PMID]:28459058
[Au] Autor:McClish DK; Smith WR; Levenson JL; Aisiku IP; Roberts JD; Roseff SD; Bovbjerg VE
[Ad] Endereço:Department of Biostatistics, Virginia Commonwealth University, Richmond, VA 23298, USA.
[Ti] Título:Comorbidity, Pain, Utilization, and Psychosocial Outcomes in Older versus Younger Sickle Cell Adults: The PiSCES Project.
[So] Source:Biomed Res Int;2017:4070547, 2017.
[Is] ISSN:2314-6141
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:. Patients with SCD now usually live well into adulthood. Whereas transitions into adulthood are now often studied, little is published about aging beyond the transition period. We therefore studied age-associated SCD differences in utilization, pain, and psychosocial variables. . Subjects were 232 adults in the Pain in Sickle Cell Epidemiology Study (PiSCES). Data included demographics, comorbidity, and psychosocial measures. SCD-related pain and health care utilization were recorded in diaries. We compared 3 age groups: 16-25 (transition), 26-36 (younger adults), and 37-64 (older adults) years. . Compared to the 2 adult groups, the transition group reported fewer physical challenges via comorbidities, somatic complaints, and pain frequency, though pain intensity did not differ on crisis or noncrisis pain days. The transition group utilized opioids less often, made fewer ambulatory visits, and had better quality of life, but these differences disappeared after adjusting for pain and comorbidities. However, the transition group reported more use of behavioral coping strategies. . We found fewer biological challenges, visits, and better quality of life, in transition-aged versus older adults with SCD, but more behavioral coping. Further study is required to determine whether age-appropriate health care, behavioral, or other interventions could improve age-specific life challenges of patients with SCD.
[Mh] Termos MeSH primário: Anemia Falciforme
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Anemia Falciforme/epidemiologia
Anemia Falciforme/fisiopatologia
Anemia Falciforme/psicologia
Comorbidade
Feminino
Seres Humanos
Masculino
Meia-Idade
Dor
Aceitação pelo Paciente de Cuidados de Saúde
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180227
[Lr] Data última revisão:
180227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE
[do] DOI:10.1155/2017/4070547


  3 / 17359 MEDLINE  
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[PMID]:29270975
[Au] Autor:Václavu L; Baldew ZAV; Gevers S; Mutsaerts HJMM; Fijnvandraat K; Cnossen MH; Majoie CB; Wood JC; VanBavel E; Biemond BJ; van Ooij P; Nederveen AJ
[Ad] Endereço:Radiology & Nuclear Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
[Ti] Título:Intracranial 4D flow magnetic resonance imaging reveals altered haemodynamics in sickle cell disease.
[So] Source:Br J Haematol;180(3):432-442, 2018 02.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Stroke risk in children with sickle cell disease (SCD) is currently assessed with routine transcranial Doppler ultrasound (TCD) measurements of blood velocity in the Circle of Willis (CoW). However, there is currently no biomarker with proven prognostic value in adult patients. Four-dimensional (4D) flow magnetic resonance imaging (MRI) may improve risk profiling based on intracranial haemodynamics. We conducted neurovascular 4D flow MRI and blood sampling in 69 SCD patients [median age 15 years (interquartile range, IQR: 12-50)] and 14 healthy controls [median age 21 years (IQR: 18-43)]. We measured velocity, flow, lumen area and endothelial shear stress (ESS) in the CoW. SCD patients had lower haematocrit and viscosity, and higher velocity, flow and lumen area, with lower ESS compared to healthy controls. We observed significant age-related decline in haemodynamic 4D flow parameters; velocity (Spearman's ρ = -0·36 to -0·61), flow (ρ = -0·26 to -0·52) and ESS (ρ = -0·14 to -0·54) in SCD patients. Further analysis in only adults showed that velocity values were similar in SCD patients compared to healthy controls, but that the additional 4D flow parameters, flow and lumen area, were higher, and ESS lower, in the SCD group. Our data suggest that 4D flow MRI may identify adult patients with an increased stroke risk more accurately than current TCD-based velocity.
[Mh] Termos MeSH primário: Anemia Falciforme/fisiopatologia
Circulação Cerebrovascular
Hemodinâmica
Imagem por Ressonância Magnética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Anemia Falciforme/sangue
Anemia Falciforme/patologia
Velocidade do Fluxo Sanguíneo
Encéfalo/diagnóstico por imagem
Encéfalo/patologia
Estudos de Casos e Controles
Criança
Feminino
Hematócrito
Seres Humanos
Processamento de Imagem Assistida por Computador
Imagem por Ressonância Magnética/métodos
Masculino
Meia-Idade
Viscosidade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171223
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.15043


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[PMID]:29205277
[Au] Autor:Wonkam A; Mnika K; Ngo Bitoungui VJ; Chetcha Chemegni B; Chimusa ER; Dandara C; Kengne AP
[Ad] Endereço:Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
[Ti] Título:Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon.
[So] Source:Br J Haematol;180(1):134-146, 2018 01.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We aimed to investigate the clinical and genetic predictors of painful vaso-occlusive crises (VOC) in sickle cell disease (SCD) in Cameroon. Socio-demographics, clinical variables/events and haematological indices were acquired. Genotyping was performed for 40 variants in 17 pain-related genes, three fetal haemoglobin (HbF)-promoting loci, two kidney dysfunctions-related genes, and HBA1/HBA2 genes. Statistical models using regression frameworks were performed in R . A total of 436 hydoxycarbamide- and opioid-naïve patients were studied; median age was 16 years. Female sex, body mass index, Hb/HbF, blood transfusions, leucocytosis and consultation or hospitalisation rates significantly correlated with VOC. Three pain-related genes variants correlated with VOC (CACNA2D3-rs6777055, P = 0·025; DRD2-rs4274224, P = 0·037; KCNS1-rs734784, P = 0·01). Five pain-related genes variants correlated with hospitalisation/consultation rates. (COMT-rs6269, P = 0·027; FAAH-rs4141964, P = 0·003; OPRM1-rs1799971, P = 0·031; ADRB2-rs1042713; P < 0·001; UGT2B7-rs7438135, P = 0·037). The 3·7 kb HBA1/HBA2 deletion correlated with increased VOC (P = 0·002). HbF-promoting loci variants correlated with decreased hospitalisation (BCL11A-rs4671393, P = 0·026; HBS1L-MYB-rs28384513, P = 0·01). APOL1 G1/G2 correlated with increased hospitalisation (P = 0·048). This first study from Africa has provided evidence supporting possible development of genetic risk model for pain in SCD.
[Mh] Termos MeSH primário: Anemia Falciforme/complicações
Anemia Falciforme/epidemiologia
Predisposição Genética para Doença
Hospitalização
Dor/epidemiologia
Dor/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Alelos
Anemia Falciforme/sangue
Anemia Falciforme/genética
Camarões/epidemiologia
Estudos de Casos e Controles
Criança
Pré-Escolar
Índices de Eritrócitos
Feminino
Frequência do Gene
Variação Genética
Haplótipos
Hemoglobinas Anormais/genética
Hospitalização/estatística & dados numéricos
Seres Humanos
Testes de Função Renal
Masculino
Meia-Idade
Mutação
Aceitação pelo Paciente de Cuidados de Saúde
Polimorfismo de Nucleotídeo Único
Estudos Prospectivos
Locos de Características Quantitativas
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.15011


  5 / 17359 MEDLINE  
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[PMID]:29377071
[Au] Autor:Rees DC; Robinson S; Howard J
[Ad] Endereço:Department of Haematological Medicine, King's College Hospital, King's College London, London, UK.
[Ti] Título:How I manage red cell transfusions in patients with sickle cell disease.
[So] Source:Br J Haematol;180(4):607-617, 2018 02.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sickle cell disease is one of the commonest serious inherited diseases in the world, and red cell transfusion is still one of the few effective treatments for acute and chronic complications. Transfusion corrects anaemia and dilutes out the number of red cells able to cause vaso-occlusion and vascular damage. Urgent red cell transfusions are used to correct acute anaemia, treat acute chest syndrome and patients with acute neurological symptoms. We use elective transfusions preoperatively for moderate risk surgery, and in some pregnant women. There is good evidence for the use of long-term regular transfusions in primary stroke prevention, with the aim of keeping the percentage of sickle haemoglobin below 30%. Long-term transfusions are also used in secondary stroke prevention, and the management of progressive organ damage, including renal impairment and pulmonary hypertension. Blood needs to be matched for ABO, RH and Kell, although alloantibodies may still develop and require more careful, extended cross-matching. Delayed haemolytic transfusion reactions are relatively common, difficult to diagnose and manage, and potentially fatal.
[Mh] Termos MeSH primário: Anemia Falciforme/terapia
Transfusão de Eritrócitos
[Mh] Termos MeSH secundário: Fatores Etários
Anemia Falciforme/complicações
Anemia Falciforme/diagnóstico
Anemia Falciforme/etiologia
Doadores de Sangue
Gerenciamento Clínico
Transfusão de Eritrócitos/efeitos adversos
Transfusão de Eritrócitos/métodos
Genótipo
Seres Humanos
Disseminação de Informação
Isoanticorpos/sangue
Isoanticorpos/imunologia
Fenótipo
Fatores de Tempo
Reação Transfusional
Conduta Expectante
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Isoantibodies)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180130
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.15115


  6 / 17359 MEDLINE  
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[PMID]:29363738
[Au] Autor:Willen SM; Rodeghier M; Strunk RC; Bacharier LB; Rosen CL; Kirkham FJ; DeBaun MR; Cohen RT
[Ad] Endereço:Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt-Meharry Center for Excellence in Sickle Cell Disease, Vanderbilt University Medical Center, Nashville, TN, USA.
[Ti] Título:Aeroallergen sensitization predicts acute chest syndrome in children with sickle cell anaemia.
[So] Source:Br J Haematol;180(4):571-577, 2018 02.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Asthma is associated with higher rates of acute chest syndrome (ACS) and vaso-occlusive pain episodes among children with sickle cell anaemia (SCA). Aeroallergen sensitization is a risk factor for asthma. We hypothesized that aeroallergen sensitization is associated with an increased incidence of hospitalizations for ACS and pain. Participants in a multicentre, longitudinal cohort study, aged 4-18 years with SCA, underwent skin prick testing to ten aeroallergens. ACS and pain episodes were collected from birth until the end of the follow-up period. The number of positive skin tests were tested for associations with prospective rates of ACS and pain. Multivariable models demonstrated additive effects of having positive skin tests on future rates of ACS (incidence rate ratio (IRR) for each positive test 1·23, 95% confidence interval [CI] 1·11-1·36, P < 0·001). Aeroallergen sensitization was not associated with future pain (IRR 1·14, 95%CI 0·97-1·33, P = 0·11). Our study demonstrated that children with SCA and aeroallergen sensitization are at increased risk for future ACS. Future research is needed to determine whether identification of specific sensitizations and allergen avoidance and treatment reduce the risk of ACS for children with SCA.
[Mh] Termos MeSH primário: Síndrome Torácica Aguda/diagnóstico
Síndrome Torácica Aguda/etiologia
Alérgenos/imunologia
Anemia Falciforme/complicações
[Mh] Termos MeSH secundário: Adolescente
Aerossóis
Biomarcadores
Criança
Pré-Escolar
Feminino
Seguimentos
Seres Humanos
Hipersensibilidade/complicações
Hipersensibilidade/imunologia
Imunização
Masculino
Morbidade
Medição da Dor
Prognóstico
Estudos Prospectivos
Testes Cutâneos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Aerosols); 0 (Allergens); 0 (Biomarkers)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180125
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.15076


  7 / 17359 MEDLINE  
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[PMID]:29223211
[Au] Autor:Phillips C; Boyd MP
[Ti] Título:Perinatal and Neonatal Implications of Sickle Cell Disease.
[So] Source:Nurs Womens Health;21(6):474-487, 2017 Dec.
[Is] ISSN:1751-486X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sickle cell disease is the genetic disorder most commonly detected with state-mandated newborn screening. Women with sickle cell disease struggle with psychosocial, emotional, and physical challenges throughout their lives. Pregnancy for women with sickle cell disease brings greater risk for maternal and fetal morbidity and mortality and increased likelihood of hospitalization for complications, including sickle cell pain crisis. Chronic maternal opioid use for pain can place newborns at risk for neonatal abstinence syndrome. Care of a pregnant woman with sickle cell disease requires a collaborative, multidisciplinary team addressing the medical, social, and emotional needs of the woman and her family.
[Mh] Termos MeSH primário: Anemia Falciforme/etiologia
Anemia Falciforme/fisiopatologia
Gerenciamento Clínico
Educação Continuada em Enfermagem
[Mh] Termos MeSH secundário: Adulto
Anemia Falciforme/genética
Feminino
Aconselhamento Genético
Seres Humanos
Saúde do Lactente/normas
Recém-Nascido
Manejo da Dor
Assistência Perinatal/métodos
Assistência Perinatal/normas
Gravidez
Complicações Hematológicas na Gravidez/prevenção & controle
Complicações Hematológicas na Gravidez/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:N
[Da] Data de entrada para processamento:171211
[St] Status:MEDLINE


  8 / 17359 MEDLINE  
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[PMID]:29300776
[Au] Autor:Benneh-Akwasi Kuma A; Owusu-Ansah AT; Ampomah MA; Sey F; Olayemi E; Nouraie M; Ofori-Acquah SF
[Ad] Endereço:Department of Hematology, College of Health Sciences, University of Ghana, Accra, Ghana.
[Ti] Título:Prevalence of relative systemic hypertension in adults with sickle cell disease in Ghana.
[So] Source:PLoS One;13(1):e0190347, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Individuals with sickle cell disease particularly with the homozygous (SS) genotype historically have relatively low blood pressure. Nonetheless, they develop vasculopathy-associated organ dysfunction and the risk of organ dysfunction increases at blood pressures that are normal in the general population. This phenomenon is termed relative systemic hypertension (RSH) with a systolic blood pressure range of 120-139 mmHg, and diastolic blood pressure range of 70-89 mmHg. The significance of RSH lies in its association with renal insufficiency, pulmonary hypertension, stroke and propensity to progress to systemic hypertension. We conducted a retrospective chart review of 1,000 adults with sickle cell disease at the Ghana Institute of Clinical Genetics, to determine the prevalence of RSH in sickle cell disease in Ghana and associated complications. We found a high prevalence of RSH and hypertension with a relatively low frequency of renal insufficiency. Pulse pressure, a predictor of mortality, was higher in males of all ages. We anticipate that providing an estimate of the burden of RSH will heighten its recognition and clinical management among health care providers.
[Mh] Termos MeSH primário: Anemia Falciforme/complicações
Hipertensão/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Gana/epidemiologia
Seres Humanos
Hipertensão/complicações
Masculino
Meia-Idade
Prevalência
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180105
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190347


  9 / 17359 MEDLINE  
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[PMID]:29419693
[Au] Autor:Ozdogu H; Boga C; Asma S; Kozanoglu I; Gereklioglu C; Yeral M; Buyukkurt NT; Solmaz S; Korur A; Aytan P; Maytalman E; Kasar M
[Ad] Endereço:Adana Adult Bone Marrow Transplantation Center, University Hospital of Baskent, Adana.
[Ti] Título:Organ damage mitigation with the Baskent Sickle Cell Medical Care Development Program (BASCARE).
[So] Source:Medicine (Baltimore);97(6):e9844, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Eastern Mediterranean is among the regions where sickle cell disease (SCD) is common. The morbidity and mortality of this disease can be postponed to adulthood through therapies implemented in childhood. The present study focuses on the organ damage-reducing effects of the Baskent Sickle Cell Medical Care Development Program (BASCARE), which was developed by a team who lives in this region and has approximately 25 years of experience. The deliverables of the program included the development of an electronic health recording system (PRANA) and electronic vaccination system; the use of low citrate infusion in routine prophylactic automatic erythrocyte exchange (ARCE) programs including pregnant women; the use of leukocyte-filtered and irradiated blood for transfusion; the use of magnetic resonance imaging methods (T2) for the management of transfusion-related hemosiderosis; and the implementation of an allogeneic hematopoietic stem cell transplantation protocol for adult patients. The sample was composed of 376 study subjects and 249 control subjects. The hospital's Data Management System and the central population operating system were used for data collection. BASCARE enabled better analysis and interpretation of complication and mortality data. Vaccination rates against influenza and pneumococcal disease improved (21.5% vs 50.8% and 21.5% vs 49.2%, respectively). Effective and safe ARCE with low citrate infusion were maintained in 352 subjects (1003 procedures). Maternal and fetal mortality was prevented in 35 consecutive pregnant patients with ARCE. Chelating therapy rates reduced from 6.7% to 5%. Successful outcomes could be obtained in all 13 adult patients who underwent allogeneic peripheral stem cell transplantation from a fully matched, related donor. No patients died by day 100 or after the first year. Cure could be achieved without graft loss, grades III to IV acute graft versus host disease, extensive chronic graft versus host disease, or other major complications. The BASCARE program significantly improved patient care and thereby prolonged the life span of SCD patients (42 ± 13 years vs 29 ±â€Š7 years, P < .001). We may recommend using such individualized programs in centers that provide health care for patients with SCD, in accordance with holistic approach due to the benign nature but malignant course of the disease.
[Mh] Termos MeSH primário: Anemia Falciforme
Avaliação de Processos e Resultados (Cuidados de Saúde)/estatística & dados numéricos
Administração dos Cuidados ao Paciente
[Mh] Termos MeSH secundário: Adulto
Anemia Falciforme/epidemiologia
Anemia Falciforme/terapia
Registros Eletrônicos de Saúde/organização & administração
Feminino
Seres Humanos
Lactente
Masculino
Meia-Idade
Mortalidade
Administração dos Cuidados ao Paciente/métodos
Administração dos Cuidados ao Paciente/organização & administração
Administração dos Cuidados ao Paciente/estatística & dados numéricos
Gravidez
Serviços Preventivos de Saúde/métodos
Desenvolvimento de Programas
Turquia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180209
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009844


  10 / 17359 MEDLINE  
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[PMID]:28466968
[Au] Autor:Geard A; Pule GD; Chetcha Chemegni B; Ngo Bitoungui VJ; Kengne AP; Chimusa ER; Wonkam A
[Ad] Endereço:Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
[Ti] Título:Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon.
[So] Source:Br J Haematol;178(4):629-639, 2017 08.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Micro-albuminuria and glomerular hyperfiltration are primary indicators of renal dysfunctions in Sickle Cell Disease (SCD), with more severe manifestations previously associated with variants in APOL1 and HMOX1 among African Americans. We have investigated 413 SCD patients from Cameroon. Anthropometric variables, haematological indices, crude albuminuria, albumin-to-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR) were measured. Patients were genotyped for 3·7 kb alpha-globin gene (HBA1/HBA2) deletion, and for variants in APOL1 (G1/G2; rs60910145, rs73885319, rs71785313) and HMOX1 (rs3074372, rs743811). The median age was 15 years; the majority presented with micro-albuminuria (60·9%; n = 248), and approximately half with glomerular hyperfiltration (49·5%; n = 200). Age, male sex, haemoglobin level, leucocyte count, mean corpuscular volume, blood pressure, body mass index and creatinine levels significantly affected albuminuria and/or eGFR. Co-inheritance of alpha-thalassaemia was protective against macro-albuminuria (P = 0·03). APOL1 G1/G2 risk variants were significantly associated with the ACR (P = 0·01) and borderline with eGFR (P = 0·07). HMOX1 - rs743811 was borderline associated with micro-albuminuria (P = 0·07) and macro-albuminuria (P = 0·06). The results revealed a high proportion of micro-albuminuria and glomerular hyperfiltration among Cameroonian SCD patients, and support the possible use of targeted genetic biomarkers for risks assessment.
[Mh] Termos MeSH primário: Anemia Falciforme/complicações
Insuficiência Renal/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Albuminúria/epidemiologia
Albuminúria/etiologia
Albuminúria/genética
Anemia Falciforme/epidemiologia
Anemia Falciforme/genética
Antropometria/métodos
Apolipoproteína L1
Apolipoproteínas/genética
Camarões/epidemiologia
Criança
Pré-Escolar
Feminino
Deleção de Genes
Predisposição Genética para Doença
Variação Genética
Taxa de Filtração Glomerular/genética
Hemoglobina A Glicada/genética
Heme Oxigenase-1/genética
Seres Humanos
Lipoproteínas HDL/genética
Masculino
Meia-Idade
Estudos Prospectivos
Insuficiência Renal/epidemiologia
Insuficiência Renal/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (Glycated Hemoglobin A); 0 (Lipoproteins, HDL); EC 1.14.14.18 (HMOX1 protein, human); EC 1.14.14.18 (Heme Oxygenase-1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180209
[Lr] Data última revisão:
180209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14724



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