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1.
Stud Health Technol Inform ; 258: 95-99, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30942722

RESUMO

Sickle cell disease is a major public health problem in Senegal. It is an inherited disease that affects about 300,000 births worldwide each year. There are 70 million people affected worldwide, 80% of whom live in sub-Saharan Africa. In Senegal, 1 in 10 people carries the sickle cell disease gene. This disease requires follow-up from birth and for life. The patient care requires the integration and the analysis of biological, clinical, social, economic data., etc. In this paper, we propose a health information system for data management of the blood sampling from the newborn at the maternity wards and the disease screening at the Center for Research and Ambulatory Care of the Sickle Cell Disease (CERPAD).


Assuntos
Anemia Falciforme , Sistemas de Informação , Triagem Neonatal , África ao Sul do Saara , Anemia Falciforme/diagnóstico , Testes Hematológicos , Humanos , Recém-Nascido , Senegal
2.
Graefes Arch Clin Exp Ophthalmol ; 257(7): 1353-1364, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30895451

RESUMO

PURPOSE: To provide a focused review of sickle cell retinopathy in the light of recent advances in the pathogenesis, multimodal retinal imaging, management of the condition, and migration trends, which may lead to increased prevalence of the condition in the Western world. METHODS: Non-systematic focused literature review. RESULTS: Sickle retinopathy results from aggregation of abnormal hemoglobin in the red blood cells in the retinal microcirculation, leading to reduced deformability of the red blood cells, stagnant blood flow in the retinal precapillary arterioles, thrombosis, and ischemia. This may be precipitated by hypoxia, acidosis, and hyperosmolarity. Sickle retinopathy may result in sight threatening complications, such as paracentral middle maculopathy or sequelae of proliferative retinopathy, such as vitreous hemorrhage and retinal detachment. New imaging modalities, such as wide-field imaging and optical coherence tomography angiography, have revealed the microstructural features of sickle retinopathy, enabling earlier diagnosis. The vascular growth factor ANGPTL-4 has recently been identified as a potential mediator of progression to proliferative retinopathy and may represent a possible therapeutic target. Laser therapy should be considered for proliferative retinopathy in order to prevent visual loss; however, the evidence is not very strong. With recent development of wide-field imaging, targeted laser to ischemic retina may prove to be beneficial. Exact control of intraoperative intraocular pressure, including valved trocar vitrectomy systems, may improve the outcomes of vitreoretinal surgery for complications, such as vitreous hemorrhage and retinal detachment. Stem cell transplantation and gene therapy are potentially curative treatments, which may prevent retinopathy. CONCLUSIONS: There is lack of evidence regarding the optimal management of sickle retinopathy. Further study is needed to determine if recent progress in the understanding of the pathophysiology and diagnosis of sickle retinopathy may translate into improved management and outcome.


Assuntos
Angiofluoresceinografia/métodos , Hemoglobinas/metabolismo , Fotocoagulação a Laser/métodos , Retina/diagnóstico por imagem , Doenças Retinianas , Tomografia de Coerência Óptica/métodos , Anemia Falciforme/complicações , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Fundo de Olho , Saúde Global , Humanos , Prevalência , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Doenças Retinianas/cirurgia
3.
Malar J ; 18(1): 14, 2019 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-30665411

RESUMO

BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency (G6PDd), haemoglobin C (HbC) and S (HbS) are inherited blood disorders (IBD) common in populations in malaria endemic areas. All are associated to some degree with protection against clinical malaria whilst additionally G6PDd is associated with haemolysis following treatment with 8-aminoquinolines. Measuring the prevalence of these inherited blood disorders in affected populations can improve understanding of disease epidemiology. Current methodologies in epidemiological studies commonly rely on individual target amplification and visualization; here a method is presented to simultaneously detect the polymorphisms and that can be expanded to include other single nucleotide polymorphisms (SNPs) of interest. METHODS: Human DNA from whole blood samples was amplified in a novel, multiplex PCR reaction and extended with SNP-specific probes in an allele specific primer extension (ASPE) to simultaneously detect four epidemiologically important human markers including G6PD SNPs (G202A and A376G) and common haemoglobin mutations (HbS and HbC). The products were hybridized to magnetic beads and the median fluorescence intensity (MFI) was read on MAGPIX® (Luminex corp.). Genotyping data was compared to phenotypical data generated by flow cytometry and to established genotyping methods. RESULTS: Seventy-five samples from Burkina Faso (n = 75/78, 96.2%) and 58 samples from The Gambia (n = 58/61, 95.1%) had a G6PD and a HBB genotype successfully assigned by the bead-based assay. Flow cytometry data available for n = 61 samples further supported the concordance between % G6PD normal/deficient cells and genotype. CONCLUSIONS: The bead based assay compares well to alternative measures of genotyping and phenotyping for G6PD. The screening is high throughput, adaptable to inclusion of multiple targets of interest and easily standardized.


Assuntos
Anemia Falciforme/diagnóstico , Técnicas de Genotipagem/métodos , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Doença da Hemoglobina C/diagnóstico , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Burkina Faso , Criança , Glucosefosfato Desidrogenase/genética , Hemoglobina C/genética , Hemoglobina Falciforme/genética , Humanos , Malária/complicações , Masculino , Pessoa de Meia-Idade , Adulto Jovem
4.
Methods Mol Biol ; 1885: 207-219, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30506200

RESUMO

The inherited disorders of hemoglobin synthesis constitute the most common monogenic diseases worldwide. The clinical severity of ß-thalassemia major and the sickle cell syndromes targets them as priority genetic diseases for prevention programs, which incorporates population screening to identify heterozygotes, with the option of prenatal diagnosis for carrier couples. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis. The application of real-time PCR provides a means for rapid and potentially high throughput assays, without compromising accuracy. It has several advantages over end-point PCR analysis, including the elimination of post-PCR processing steps and a wide dynamic range of detection with a high degree of sensitivity. Although there are over 200 mutations associated with the ß-thalassemia and sickle cell syndromes, the relatively small size of the ß-, HBB gene (less than 2000 base-pairs) and the close proximity of most mutations facilitates the design of a minimal number of real-time PCR assays using the LightCycler™ system, which are capable of detecting the majority of most common ß-gene mutations world-wide. These assays are highly appropriate for rapid genotyping of parental and fetal DNA samples with respect to ß-thalassemia and sickle cell syndromes.


Assuntos
Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Testes Genéticos , Diagnóstico Pré-Natal , Talassemia beta/diagnóstico , Talassemia beta/genética , Líquido Amniótico/citologia , Amostra da Vilosidade Coriônica , Análise Mutacional de DNA , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos/métodos , Humanos , Mutação , Diagnóstico Pré-Natal/métodos , Reação em Cadeia da Polimerase em Tempo Real , Globinas beta/genética
5.
Rev Chil Pediatr ; 89(4): 525-529, 2018 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-30571829

RESUMO

Sickle cell disease (SCD) is an autosomal recessive genetic disorder. It is the most frequent structural hemoglobinopathy worldwide, and it is produced by an alteration in the globin chain genes. In Chile, there is no data on the prevalence of SCD since it is considered a very rare condition. The incidence of this disease has been increasing due to migration of people from areas with greater presence of SCD. It is important to know and consider this diagnosis in a selected group of patients with anemia, in order to prevent and treat the different complications of this disease. This article reviews the most recent information that shows new concepts in the knowledge of the physiopathology, and especially publications of guidelines and consensus in relation to the diagnosis and management of this con dition.


Assuntos
Anemia Falciforme , Anemia Falciforme/diagnóstico , Anemia Falciforme/fisiopatologia , Anemia Falciforme/terapia , Terapia Combinada , Diagnóstico Diferencial , Humanos , Prognóstico
7.
Arch. Soc. Esp. Oftalmol ; 93(10): 507-510, oct. 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-175127

RESUMO

Paciente varón de 10 años, de raza negra, con antecedente de traumatismo leve en ojo izquierdo; presenta agudeza visual corregida de 0,2 en escala de Snellen, hifema con altura de 1 mm, presión intraocular (PIO) de 12 mmHg en ese ojo, con incremento de PIO a 20 mmHg a las 72 h. Con el resultado positivo del estudio de drepanocitos, se decide tratamiento médico con oxigenoterapia transcorneal. Se logra el aclaramiento de la cámara anterior, con agudeza visual corregida de 0,8 y la reducción de la PIO a 8 mmHg. Discusión: En los pacientes con hifema persitente en el contexto de una drepanocitosis, la oxigenoterapia transcorneal es una buena alternativa terapéutica. Se obtienen resultados satisfactorios inmediatos con la disminución de la PIO y el aclaramiento de la cámara anterior


Clinical case The case concerns a 10-year-old boy of African origin, who suffered a mild ocular trauma to the left eye. Upon examination, the best visual acuity was 0.2 using the Snellen scale, with a 1mm height hyphema, intraocular pressure (IOP) of 12 mmHg on left eye, with an increase up to 20 mmHg within 72 h. With a positive test for sickle cell disease, it was decided to treat medically with transcorneal oxygen therapy. Clearing of the anterior chamber was achieved, with and improvement in the best visual acuity to 0.8, and lowering of IOP to 8 mmHg. Discussion: In the context of patients with persistent hyphema with sickle cell trait, transcorneal oxygen therapy is an effective alternative therapy. Achieving immediate and favourable results by lowering the IOP and improving the clearing of the anterior chamber


Assuntos
Humanos , Masculino , Criança , Anemia Falciforme/diagnóstico , Oxigênio/uso terapêutico , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/terapia , Edema/diagnóstico , Lubrificantes Oftálmicos/uso terapêutico , Hifema/terapia , Acuidade Visual , Câmara Anterior , Pressão Intraocular , Anemia Falciforme/complicações
8.
Vasc Health Risk Manag ; 14: 199-204, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30233199

RESUMO

Background: Nitric oxide (NO) plays a fundamental role in maintaining normal vasomotor tone. Recent clinical and experimental data suggest that NO may play a role in the pathogenesis and therapy of sickle cell disease (SCD). The aim of this study was to determine NO metabolites (NOx) in SCD patients at steady state and in vaso-occlusive crisis (VOC), as well as those with hemolytic clinical sub-phenotype that includes leg ulcers and priapism. Methodology: This was a case-control cross-sectional study conducted on a total of 694 subjects including 148 comparison group HbAA, 208 HbSS SCD patients in steady state, 82 HbSC SCD patients in steady state, 156 HbSS SCD patients in VOC, 34 HbSC SCD patients in VOC, 34 HbSS SCD patients in post VOC, 21 HbSS SCD patients with leg ulcer and 11 HbSS SCD patients with priapism, with age ranging from 15 to 65 years. Laboratory diagnosis of SCD was done at the Sickle Cell Clinic of the Korle-Bu Teaching Hospital. Plasma nitric oxide metabolites were measured using Griess reagent system by ELISA method. Results: Mean NOx of 59.66±0.75 µMol/L in the comparison group was significantly different from those in steady state (P=0.02). During VOC, there was a significant reduction in mean NOx levels to 6.08±0.81 µMol/L (P<0.001). Mean NOx levels were however, significantly higher (50.97±1.68 µMol/L) (P<0.001) in the immediate postcrisis period. The mean NOx levels in the leg ulcer (21.70±1.18 µMol/L) (P<0.001) and priapism (28.97±1.27 µMol/L) (P<0.001) patients were significantly low as compared to the SCD patients in the steady state and comparison group. Conclusion: This study presents the first report on plasma NOx levels in SCD complication in Ghanaian SCD patients and confirms reduced plasma NOx levels in SCD patients in general.


Assuntos
Anemia Falciforme/sangue , Óxido Nítrico/sangue , Adolescente , Adulto , Idoso , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Biomarcadores/sangue , Estudos de Casos e Controles , Estudos Transversais , Regulação para Baixo , Ensaio de Imunoadsorção Enzimática , Feminino , Gana/epidemiologia , Hemólise , Humanos , Úlcera da Perna/sangue , Úlcera da Perna/epidemiologia , Masculino , Pessoa de Meia-Idade , Priapismo/sangue , Priapismo/epidemiologia , Prognóstico , Fatores de Risco , Adulto Jovem
10.
Ann Biol Clin (Paris) ; 76(4): 416-420, 2018 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-29976532

RESUMO

Sickle SCAN™ is a rapid, qualitative, point-of-care lateral flow immunoassay for the identification of AS, AC, SS/Sß0thal, SC and CC/Cß0thal phenotype. We evaluated this test under the conditions encountered in the French newborn screening (NBS) program for sickle cell disease: a total of 104 dried blood spots (DBSs) were tested with an HPLC reference method and then with the Sickle SCAN™ device. Sickle SCAN™ identified the hemoglobin (Hb) phenotype correctly on 96% of cases. In the four non-concordant cases, the antibody anti-HbS cross-reacted with HbE (n=2), HbD (n=1) or HbX (n=1). There were no false negative. In order to test Sickle SCAN™'s sensitivity to low levels of HbA and HbS in the presence of high HbF levels, we selected another 21 DBS cards with low percentages of HbA (0.6-4.2%) and HbS (2.0-6.9%). HbA and HbS were always detected when present at levels of more than 1% and 2%, respectively. Sickle SCAN™ appears to be an accurate point-of-care method for the identification of newborns with SCD trait. The device meets the criteria for sickle cell disease NBS programs in endemic countries with poor access to laboratory equipment.


Assuntos
Anemia Falciforme/diagnóstico , Triagem Neonatal/métodos , Anemia Falciforme/sangue , Cromatografia Líquida de Alta Pressão/normas , França , Testes Hematológicos/métodos , Testes Hematológicos/normas , Humanos , Recém-Nascido , Triagem Neonatal/normas , Sistemas Automatizados de Assistência Junto ao Leito/normas , Sensibilidade e Especificidade
11.
Reprod Biomed Online ; 37(2): 136-144, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29853423

RESUMO

RESEARCH QUESTION: Mutations of the beta-globin gene (HBB) cause beta-thalassaemia and sickle cell anaemia. These are the most common cause of severe inherited disease in humans. Traditional preimplantation genetic testing protocols for detecting HBB mutations frequently involve labour intensive, patient-specific test designs owing to the wide diversity of disease-associated HBB mutations. We, therefore, asked the question whether a universally applicable preimplantation genetic testing method can be developed to test for HBB gene mutations. DESIGN: A multiplex polymerase chain reaction protocol was designed, allowing simultaneous amplification of multiple overlapping DNA fragments encompassing the entire HBB gene sequence in addition to 17 characterized, closely linked single nucleotide polymorphisms (SNP). Amplicons were then analysed using a next-generation sequencing method, revealing mutations and SNP genotypes. The protocol was extensively validated, optimized and eventually clinically applied on whole-genome amplified DNA derived from embryos of three couples carrying different combinations of beta-thalassaemia mutations. RESULTS: The HBB mutation status and associated SNP haplotypes were successfully determined in all 21 embryos. Analysis of 141 heterozygous sites showed no instances of allele dropout and the test displayed 100% concordance compared with the results obtained from karyomapping. This suggests that the combination of trophectoderm biopsy and highly sensitive next-generation sequencing may provide superior accuracy than typically achieved using traditional preimplantation genetic testing methods. Importantly, no patient-specific test design or optimization was needed. CONCLUSIONS: It is hoped that protocols that deliver almost universally applicable low-cost tests, without compromising diagnostic accuracy, will improve patient access to preimplantation genetic testing, especially in less affluent parts of the world.


Assuntos
Anemia Falciforme/diagnóstico , Blastocisto , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Diagnóstico Pré-Implantação/métodos , Talassemia beta/diagnóstico , Alelos , Anemia Falciforme/genética , Feminino , Genótipo , Humanos , Mutação , Gravidez , Talassemia beta/genética
13.
Pan Afr Med J ; 29: 24, 2018.
Artigo em Francês | MEDLINE | ID: mdl-29875906

RESUMO

Introduction: Sickle cell disease is a very common disease in the Democratic Republic of the Congo, but it is poorly known despite having an impact on the morbi-mortality. Our study aimed to evaluate the extent of awareness and attitudes of families affected by sickle cell disease as well as the impact of this disease in their daily lives. Methods: We conducted a cross-sectional study of a unique non-random sampling from 50 families affected by sickle cell disease in Mbujimayi, Democratic Republic of the Congo, from 15 June to 15 August 2015. Participants were interviewed using a standardized questionnaire. Results: This study focuses on 50 families affected by sickle cell disease; medical characteristics were found only in first children affected by sickle cell disease in each household. Less than 10% of families had minimally ill children. Fifty families were interviewed, of whom 22 had more than one child with sickle cell disease. The average age at diagnosis was 1 years. Diagnosis was based on clinical examination in 42% (21) of cases. Each first child affected by sickle cell disease had an average of 3.4 crises per year, 4 episodes of fever per year, received an average of 1.9 transfusions per year and was hospitalized an average of 3 times per year. Thirty-one families (62%) didn't have sufficient monthly income to help their children to manage sickle cell disese, 48 (96%) families hoped that a reference sickle cell centre would be established in Mbujimayi and 47 (94%) would accept to subscribe to health insurance if the annual amount were between $50 and $100. Conclusion: The extent of awareness among families directly affected by sickle cell disease in Mbujimayi, Democratic Republic of the Congo, is low. This has a direct impact on the management of children with sickle cell disease. The socioeconomic status of these families is also a factor which should be taken into account. The establishement of a reference center and the possibility to fix an annual amount for the treatment of patients would be a strategic approach to implement the awareness and the attitudes of families in relation to this disease having a direct impact on the morbi-mortality of patients.


Assuntos
Anemia Falciforme/epidemiologia , Transfusão de Sangue/estatística & dados numéricos , Saúde da Família , Conhecimentos, Atitudes e Prática em Saúde , Adolescente , Anemia Falciforme/diagnóstico , Anemia Falciforme/terapia , Criança , Pré-Escolar , Estudos Transversais , Assistência à Saúde/organização & administração , República Democrática do Congo , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Masculino , Fatores Socioeconômicos , Inquéritos e Questionários
14.
Eur J Gastroenterol Hepatol ; 30(9): 1027-1032, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29957616

RESUMO

BACKGROUND: Sickle cell disease (SCD) is the most common inheritable hematologic disorder in the USA and is associated with ischemic organ diseases. SCD-associated ischemic bowel disease is increasing being recognized, and studies on the hospitalization outcomes of such patients are limited. OBJECTIVE: This study aimed to compare the inpatient outcomes of ischemic bowel disease among patients with SCD compared with patients without SCD. MATERIALS AND METHODS: This is a case-control study using data from the National Inpatient Sample Database (2007-2014). We analyzed and compared outcomes between cases (ischemic bowel disease with SCD) and controls (ischemic bowel disease without SCD), matched in a 1 : 5 ratio. The primary outcome was in-hospital mortality, and the secondary outcomes were healthcare resource utilization including mechanical ventilation, hemodialysis, transfusion, length of stay, and hospital charges. RESULTS: Of the 194 262 patients admitted with ischemic bowel disease, 98 had a diagnosis of SCD and were matched successfully to the controls. In multivariate analysis, patients with SCD had twice the mortality odds of those without (adjusted odds ratio=2.06, 95% confidence intervals: 1.13-3.74). They were more likely to require mechanical ventilation and blood transfusion, and to be discharged to secondary health facilities [1.68 (1.02-2.76), 3.32 (2.15-5.12), and 1.84 (1.02-3.35)]. Patients with SCD also had a higher frequency of pneumonia, acute respiratory failure, and hemodialysis for acute renal failure. There was no significant difference in the length of stay or the total hospital charge between the two groups. CONCLUSION: In patients hospitalized with ischemic bowel disease, SCD is associated with significantly increased mortality and healthcare burden.


Assuntos
Anemia Falciforme/mortalidade , Mortalidade Hospitalar , Pacientes Internados , Isquemia Mesentérica/mortalidade , Admissão do Paciente , Adulto , Anemia Falciforme/diagnóstico , Anemia Falciforme/economia , Anemia Falciforme/terapia , Transfusão de Sangue , Estudos Transversais , Bases de Dados Factuais , Feminino , Recursos em Saúde/economia , Recursos em Saúde/estatística & dados numéricos , Preços Hospitalares , Custos Hospitalares , Humanos , Tempo de Internação , Modelos Logísticos , Masculino , Isquemia Mesentérica/diagnóstico , Isquemia Mesentérica/economia , Isquemia Mesentérica/terapia , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Admissão do Paciente/economia , Diálise Renal , Respiração Artificial , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Estados Unidos/epidemiologia
15.
Opt Express ; 26(10): 13614-13627, 2018 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-29801384

RESUMO

We present a spatio-temporal analysis of cell membrane fluctuations to distinguish healthy patients from patients with sickle cell disease. A video hologram containing either healthy red blood cells (h-RBCs) or sickle cell disease red blood cells (SCD-RBCs) was recorded using a low-cost, compact, 3D printed shearing interferometer. Reconstructions were created for each hologram frame (time steps), forming a spatio-temporal data cube. Features were extracted by computing the standard deviations and the mean of the height fluctuations over time and for every location on the cell membrane, resulting in two-dimensional standard deviation and mean maps, followed by taking the standard deviations of these maps. The optical flow algorithm was used to estimate the apparent motion fields between subsequent frames (reconstructions). The standard deviation of the magnitude of the optical flow vectors across all frames was then computed. In addition, seven morphological cell (spatial) features based on optical path length were extracted from the cells to further improve the classification accuracy. A random forest classifier was trained to perform cell identification to distinguish between SCD-RBCs and h-RBCs. To the best of our knowledge, this is the first report of machine learning assisted cell identification and diagnosis of sickle cell disease based on cell membrane fluctuations and morphology using both spatio-temporal and spatial analysis.


Assuntos
Anemia Falciforme/diagnóstico , Eritrócitos Anormais/patologia , Holografia/métodos , Imagem Tridimensional/métodos , Microscopia/métodos , Reconhecimento Automatizado de Padrão/métodos , Contagem de Eritrócitos , Membrana Eritrocítica/patologia , Humanos , Análise Espaço-Temporal
16.
Rev Epidemiol Sante Publique ; 66(3): 181-185, 2018 May.
Artigo em Francês | MEDLINE | ID: mdl-29625861

RESUMO

BACKGROUND: Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S. This study aims to evaluate the number of undetected sickle cell anemia newborns by a screening policy targeting only newborns from mothers in whom a sickling test would have been positive. METHODS: From 2010 to 2012, in Bamako, Mali, West Africa, 2489 newborns were routinely screened for sickle cell anemia at the umbilical cord or heel by isoelectrofocusing and, if necessary, by high-performance liquid chromatography. These newborns were born from 2420 mothers whose hemoglobin was studied by isoelectrofocusing. The data was recorded and processed using Excel software version 14.0.0. We calculated the frequency of the sickle cell gene in mothers and newborns as well as the number of SCA newborns from heterozygous or C homozygous mothers. RESULTS: Of the 2489 newborns, 16 had sickle cell anemia (6 SS and 10 SC); 198 had the sickle cell trait; 139 were AC and 1 was CC. Of the 10 newborns with SC profile, 3 were born from mothers not carrying the S gene but the C gene of hemoglobin and in which an Emmel test would have been negative. CONCLUSION: Targeted newborn screening, based on the results of sickling test in pregnant women, would misdiagnose more than one of six sickle cell anemia newborns who would not benefit from early care. Cost-effectiveness studies of routine newborn screening for sickle cell anemia should lead to a better screening strategy in contexts where hemoglobin S and other hemoglobin defect genes coexist.


Assuntos
Anemia Falciforme/diagnóstico , Testes Hematológicos/métodos , Triagem Neonatal/métodos , Vigilância da População/métodos , Complicações Hematológicas na Gravidez/diagnóstico , Diagnóstico Pré-Natal , Adulto , África Ocidental/epidemiologia , Anemia Falciforme/sangue , Feminino , Testes Hematológicos/normas , Testes Hematológicos/estatística & dados numéricos , Hemoglobina Falciforme/análise , Humanos , Recém-Nascido , Limite de Detecção , Masculino , Mali/epidemiologia , Mães , Valor Preditivo dos Testes , Gravidez , Complicações Hematológicas na Gravidez/sangue , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas
17.
Pregnancy Hypertens ; 11: 87-91, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29523281

RESUMO

OBJECTIVE: The relationship between sickle cell disease (SCD) and severe pre-eclampsia is poorly established. It is also unknown whether the occurrence of HIV infection among women with SCD modifies their risk level for severe pre-eclampsia. We hypothesized that pregnant women with SCD are at an elevated risk for severe pre-eclampsia as a result of heightened endothelial damage; and the combination of SCD-HIV augments the inflammatory processes of endothelial damage leading to amplified risk for severe pre-eclampsia. STUDY DESIGN: We analyzed more than 57 million pregnancy-related hospitalizations and births in the US from January 1, 2002 through December 31, 2014. MAIN OUTCOME MEASURES: We applied multivariable survey logistic regression to generate odds ratios for the association between SCD, HIV and SCD-HIV status and severe pre-eclampsia with adjustment for potential confounders. RESULTS: Of the total 57,326,459 pregnant women, 57,198,505 (99.78%) did not have SCD or HIV, 73,064 (12.7 per 10,000) had HIV only, 54,890 (9.58 per 10,000) had SCD only and 222 (0.39 per 100,000) had both SCD and HIV. Mothers with SCD and HIV-SCD experienced a significant elevation in risk for severe pre-eclampsia of about 60% (OR = 1.61; 95% CI = 1.44, 1.79) and of more than 300% (OR = 4.28; 95% CI = 1.35, 13.62) respectively. CONCLUSION: In the largest study on SCD and pre-eclampsia in the world, we established SCD to be strongly associated with severe pre-eclampsia. Another unique finding is the synergistic effect of amplified risk for severe pre-eclampsia among mothers with the combined SCD-HIV status.


Assuntos
Anemia Falciforme/epidemiologia , Infecções por HIV/epidemiologia , Pré-Eclâmpsia/epidemiologia , Adolescente , Adulto , Anemia Falciforme/diagnóstico , Bases de Dados Factuais , Feminino , Infecções por HIV/diagnóstico , Inquéritos Epidemiológicos , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Pré-Eclâmpsia/diagnóstico , Gravidez , Prevalência , Prognóstico , Medição de Risco , Fatores de Risco , Índice de Gravidade de Doença , Estados Unidos/epidemiologia , Adulto Jovem
18.
Int J Mol Sci ; 19(3)2018 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-29495591

RESUMO

In sickle cell disease (SCD), hydroxyurea (HU) treatment decreases the number of vaso-occlusive crisis (VOC) and acute chest syndrome (ACS) by increasing fetal hemoglobin (HbF). Data are lacking regarding the frequency of HU dose modification or whether sub-therapeutic doses (<15 mg/kg/day) are beneficial. We reviewed the medical records of 140 patients from 2010 to 2014. The laboratory parameters and SCD complications were compared between the first and last visits based on HU use. Fifty patients (36%) never took HU or suspended HU ("no HU" group). Among patients taking <15 mg/kg/day HU on their first visit, half remained at the same dose, and the other half increased to ≥15 mg/kg/day. Among patients taking ≥15 mg/kg/day, 17% decreased to <15 mg/kg/day, and 83% stayed at ≥15 mg/kg/day. The "no HU" group had fewer episodes of VOC and ACS. Both HU treatment groups had a reduction in both complications (p < 0.0001). This improvement was observed in all SCD phenotypes. The white blood cell (WBC) counts were found to be lower, and HbF increased in both HU groups (p = 0.004, 0.001). The maximal HbF response to HU in HbS/ß⁺-thalassemia was 20%, similar to those observed for HbSS (19%) and HbS/ß°-thalassemia (22%). HbS/ß⁺-thalassemia could have a similar disease severity as HbSS or HbS/ß°-thalassemia. Patients with HbS/ß°-thalassemia or HbS/ß⁺-thalassemia phenotypes responded to HU.


Assuntos
Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/uso terapêutico , Hidroxiureia/uso terapêutico , Talassemia beta/tratamento farmacológico , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/diagnóstico , Anemia Falciforme/mortalidade , Antidrepanocíticos/administração & dosagem , Criança , Pré-Escolar , Índices de Eritrócitos , Feminino , Seguimentos , Testes de Função Cardíaca , Humanos , Hidroxiureia/administração & dosagem , Lactente , Testes de Função Hepática , Masculino , Pessoa de Meia-Idade , Fenótipo , Resultado do Tratamento , Adulto Jovem , Talassemia beta/sangue , Talassemia beta/diagnóstico , Talassemia beta/mortalidade
19.
Am J Dermatopathol ; 40(9): 682-685, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29533274

RESUMO

We report a case in which a 43-year-old African American male with medical history of sickle cell disease (SCD) presented with a nonhealing ulcer. Biopsy revealed features of livedoid vasculopathy. Previously, livedoid vasculopathy had only been described in a patient with sickle cell trait, but never in a patient with SCD. Livedoid vasculopathy most commonly affects the distal lower extremities and is characterized by irregular, punched-out, painful ulcers that heal with stellate white scars of atrophie blanche. Histologically, it reveals segmental hyalinizing vessels, focal thrombosis, and endothelial proliferation. The etiology is currently unclear, but it has been shown to be related to procoagulant states and a diagnosis of livedoid vasculopathy should prompt a thorough hypercoagulable workup, including testing for SCD in high-risk patients.


Assuntos
Anemia Falciforme/complicações , Úlcera da Perna/patologia , Livedo Reticular/patologia , Pele/irrigação sanguínea , Adulto , Anemia Falciforme/diagnóstico , Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/uso terapêutico , Biópsia , Inibidores do Fator Xa/uso terapêutico , Humanos , Úlcera da Perna/etiologia , Úlcera da Perna/terapia , Livedo Reticular/etiologia , Livedo Reticular/terapia , Masculino , Inibidores da Agregação de Plaquetas/uso terapêutico , Fatores de Risco , Transplante de Pele , Resultado do Tratamento
20.
J Med Biogr ; 26(2): 132-136, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29405852

RESUMO

In 1910, James Bryan Herrick published the first clinical and laboratory description of sickle cell anemia. Two years later, he published a case report on coronary thrombosis. Together, these case reports solidified his reputation as one of the premier diagnosticians of his generation. Now regarded as a central figure in the history of American medicine, Herrick played an integral role in the clinical adoption of the electrocardiograph and the professionalization of cardiology in the United States. Although a full decade passed before the medical profession recognized his clinical description of coronary thrombosis and myocardial infarction, it has had profound implications for cardiovascular medicine and prevention over the past hundred years. As a consultant physician, Herrick advocated in favor of incorporating chemistry and laboratory evaluation into clinical practice.


Assuntos
Anemia Falciforme/história , Cardiologistas/história , Cardiologia/história , Consultores/história , Trombose Coronária/história , Anemia Falciforme/diagnóstico , Trombose Coronária/diagnóstico , Eletrocardiografia/história , Eletrocardiografia/estatística & dados numéricos , História do Século XIX , História do Século XX , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/história
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