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ABSTRACT Objective: The aim of this study was to describe the epidemiological characteristics of pediatric patients with sickle cell disease (SCD) and evaluate the use of medicinal plants in these patients concomitantly with their drug treatment. Methods: This is a review of the medical records of pediatric patients at a public institution with tertiary care. The selection criterion was to be a child or adolescent with SCD undergoing pediatric follow-up at this outpatient clinic. In the medical records of the patients selected, records of the use of plants for medicinal purposes were sought. Results: In total, 154 records (100% of total active patients followed in this clinic) were reviewed: 99 children and 55 adolescents. The predominant genotype was SS (58.4%), followed by SC (29.2%). The use of at least one medication for SCD was reported in 95.5% of the medical records. The use of medicinal plants was reported by 70.1% of patients, with 276 citations in the medical records referring to 64 different types of plants. Six plants were used for the treatment of SCD, the main one being Lemonvine/Ora-pro-nóbis (Pereskia aculeata). The use of medicinal plants was reported for flu-like symptoms and/or COVID-19 (both for prevention and treatment) by 60.5% of the citations, with 35 different plants reported for this use, exclusively or not. This use was followed by pain symptoms (14.2% of citations). Conclusions: The majority of patients in this study use both conventional and traditional/complementary/alternative medicine, highlighting the need for more studies in the area, with a special focus on patient safety.
RESUMO Objetivo: Descrever as características epidemiológicas de pacientes pediátricos com doença falciforme (DF) e avaliar o uso de plantas medicinais concomitantemente ao tratamento medicamentoso. Métodos: Realizou-se revisão de prontuários de pacientes pediátricos de uma instituição pública com nível de atendimento terciário; o critério de seleção foi ser criança ou adolescente com DF em acompanhamento pediátrico neste ambulatório. Nos prontuários dos pacientes selecionados foi procurado o registro do uso de plantas com finalidades medicinais. Resultados: Foram revisados 154 prontuários (100% dos pacientes ativos desse ambulatório): 99 crianças e 55 adolescentes. O genótipo predominante foi SS (58,4%), seguido do SC (29,2%). O uso de ao menos uma medicação para a DF foi relatada em 95,5% dos prontuários. Em 70,1% dos prontuários havia o relato do uso de plantas medicinais, em 276 citações, sendo 64 plantas citadas ao todo; destas, seis espécies foram citadas para o tratamento da doença de base (DF), sendo "ora-pro-nobis" (Pereskia aculeata) a principal. Das 276 citações de plantas medicinais nos prontuários, 60,5% incluíram o uso de plantas medicinais em sintomas gripais e/ou COVID-19 (tanto prevenção quanto tratamento), sendo relatadas 35 para este uso, exclusivamente ou não. Essa foi a principal finalidade de uso encontrada nos prontuários dos pacientes, seguida do uso para sintomas de dor (14,2% das citações). Conclusões: Notou-se que a maioria dos pacientes avaliados faz uso da medicina convencional, aliada à tradicional/ complementar/ alternativa, o que leva à necessidade de mais estudos nessas áreas, especialmente na pediatria, visando principalmente à segurança do paciente.
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Objetivo: identificar o local e os cuidados diretos recebidos por pessoas com úlceras da perna por doença falciforme nos serviços de atenção à saúde. Método: estudo transversal, realizado em 11 centros, no período de agosto de 2019 a abril de 2020. Fizeram parte do estudo 72 pessoas com úlcera da perna ativa. O estudo foi aprovado pelo Comitê de Ética em Pesquisa. Resultado: apresentavam anemia falciforme 91,7% dos participantes, com mediana de três anos de existência da úlcera; 77,8% eram redicivantes; 40,3% compravam os insumos; 66,7% trocavam o próprio curativo no domicílio; 52,8% realizavam uma ou mais trocas diárias; 45,8% dos tratamentos foram prescritos pelo médico; 37,5% eram pomada (colagenase ou antibiótico); 89% não utilizavam compressão para o manejo do edema. Conclusão: a maioria dos participantes não estava inserida na Rede de Atenção à Saúde para o tratamento da úlcera, e não recebia assistência sistematizada e nem insumos apropriados.
Objective: to identify the location and direct care received by people with leg ulcers due to sickle cell disease in health care services. Method: a cross-sectional study carried out in 11 centers from August 2019 to April 2020. The study included 72 people with active leg ulcers. The study was approved by the Research Ethics Committee. Results: a total of 91.7% of the participants had sickle cell anemia, with a median of three years of ulcer existence; 77.8% were recurrent; 40.3% bought the supplies; 66.7% changed their own dressings at home; 52.8% did one or more changes a day; 45.8% of the treatments were prescribed by physician; 37.5% were ointments (collagenase or antibiotics); and 89% did not use compression to manage edema. Conclusion: most of the participants were not included in the Health Care Network for ulcer treatment and did not receive systematized care or appropriate supplies.
Objetivo: identificar el lugar y los cuidados directos recibidos por personas con úlceras de pierna por enfermedad falciforme en los servicios de atención a la salud. Método: estudio transversal, realizado en 11 centros, en el período de agosto de 2019 a abril de 2020. Participaron 72 personas con úlcera de pierna activa. El estudio fue aprobado por el Comité de Ética en Investigación. Resultado: presentaban anemia falciforme 91,7% de los participantes, con una mediana de tres años de existencia de la úlcera; 77,8% eran recidivantes; 40,3% compraban los insumos; 66,7% cambiaban su propio vendaje en el domicilio; 52,8% realizaban uno o más cambios diarios; 45,8% de los tratamientos fueron prescritos por el médico; 37,5% eran pomada (colagenasa o antibiótico); y 89% no utilizaban compresión para el manejo del edema. Conclusión: la mayoría de los participantes no estaba integrada en la Red de Atención a la Salud para el tratamiento de la úlcera, y no recibía asistencia sistematizada ni insumos apropiados.
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In order to document the prevalence, clinical features, hematology and outcome of the aplastic crisis in homozygous sickle cell disease (HbSS), a cohort study has been conducted from birth. Newborn screening of 100 000 deliveries at the main government maternity hospital, Kingston, Jamaica between 1973 and 1981 detected 311 cases of HbSS who have been followed at the Medical Research Council Laboratories at the University of the West Indies, Kingston, Jamaica. Clinically defined aplastic crises occurred in 118 (38%) patients at a median age of 7.5 years (range 0.5-23.0 years). All but one event seroconverted to parvovirus B19, the exception being a 9.3 year male with classic aplasia but subsequent IgG did not exceed 3 IU. Defined by zero reticulocyte counts, 94 patients presented with a median hemoglobin of 3.7 g/dL (range 18-87 g/L) representing a median fall from steady state levels of 3.8 g/dL. Clear epidemic peaks occurred at 1979-1980, 1984-1986, and 1990-1993 and the admission rate and use of blood cultures fell with each epidemic, reflecting increased familiarity with the complication. Symptoms were usually nonspecific and all but 7 were transfused. No patient had a recurrence and two died from aplasia (one with remote rural residence and the other following an incorrect diagnosis). Of those seroconverting to parvovirus B19, 68% manifested aplasia and 24% had no hematologic change. Correctly diagnosed and managed, the aplastic crisis is essentially benign. (230 words).
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Anemia Aplástica , Anemia Falciforme , Humanos , Jamaica/epidemiologia , Masculino , Anemia Falciforme/epidemiologia , Anemia Falciforme/diagnóstico , Anemia Falciforme/terapia , Anemia Falciforme/complicações , Adolescente , Criança , Feminino , Pré-Escolar , Anemia Aplástica/epidemiologia , Anemia Aplástica/diagnóstico , Anemia Aplástica/terapia , Anemia Aplástica/etiologia , Lactente , Recém-Nascido , Estudos de Coortes , Adulto Jovem , Adulto , Prevalência , Triagem NeonatalRESUMO
HbSC disease, a less severe form of sickle cell disease, affects the retina more frequently and patients have higher rates of proliferative retinopathy that can progress to vision loss. This study aimed to identify differences in the expression of endothelial cell-derived molecules associated with the pathophysiology of proliferative sickle cell retinopathy (PSCR). RNAseq was used to compare the gene expression profile of circulating endothelial colony-forming cells from patients with SC hemoglobinopathy and proliferative retinopathy (n = 5), versus SC patients without retinopathy (n = 3). Real-time polymerase chain reaction (qRT-PCR) was used to validate the RNAseq results. A total of 134 differentially expressed genes (DEGs) were found. DEGs were mainly associated with vasodilatation, type I interferon signaling, innate immunity and angiogenesis. Among the DEGs identified, we highlight the most up-regulated genes ROBO1 (log2FoldChange = 4.32, FDR = 1.35E-11) and SLC38A5 (log2FoldChange = 3.36 FDR = 1.59E-07). ROBO1, an axon-guided receptor, promotes endothelial cell migration and contributes to the development of retinal angiogenesis and pathological ocular neovascularization. Endothelial SLC38A5, an amino acid (AA) transporter, regulates developmental and pathological retinal angiogenesis by controlling the uptake of AA nutrient, which may serve as metabolic fuel for the proliferation of endothelial cells (ECs) and consequent promotion of angiogenesis. Our data provide an important step towards elucidating the molecular pathophysiology of PSCR that may explain the differences in ocular manifestations between individuals with hemoglobinopathies and afford insights for new alternative strategies to inhibit pathological angiogenesis.
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Proteínas do Tecido Nervoso , Receptores Imunológicos , Neovascularização Retiniana , Proteínas Roundabout , Adulto , Feminino , Humanos , Masculino , Angiogênese , Células Endoteliais/metabolismo , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Receptores Imunológicos/metabolismo , Receptores Imunológicos/genética , Neovascularização Retiniana/genética , Neovascularização Retiniana/metabolismo , Neovascularização Retiniana/patologiaRESUMO
Sickle cell disease (SCD) is an inherited hemoglobin disorder marked by red blood cell sickling, resulting in severe anemia, painful episodes, extensive organ damage, and shortened life expectancy. In SCD, increased iron levels can trigger ferroptosis, a specific type of cell death characterized by reactive oxygen species (ROS) and lipid peroxide accumulation, leading to damage and organ impairments. The intricate interplay between iron, ferroptosis, inflammation, and oxidative stress in SCD underscores the necessity of thoroughly understanding these processes for the development of innovative therapeutic strategies. This review highlights the importance of balancing the complex interactions among various factors and exploitation of the knowledge in developing novel therapeutics for this devastating disease.
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The early detection of sickle cell disease (SCD) is vital to reduce mortality among affected children. Suriname currently lacks a newborn screening programme (NSP) for SCD. We performed a pilot programme to evaluate the scalability of such an initiative. Dried blood spots were collected from five birth centres and subjected to electrophoresis analysis. The programme scalability was evaluated using the non-adoption, abandonment, scale-up, spread, and sustainability framework. Challenges across six domains (illness, technology, value proposition, adopter system, organisation, and societal system), were categorised hierarchically as simple ð, complicated ð, or complex ð¢. It has been proven that implementing programmes with mainly complicated challenges is difficult and those in mainly complex areas may be unachievable. SCD was detected in 33 of 5185 (0.64%) successfully screened newborns. Most of the domains were classified as simple or complicated. Disease detection and technology suitability for screening in Suriname were confirmed, with favourable parental acceptance. Only minor routine adjustment was required from the medical staff for programme implementation. Complex challenges included a reliance on external suppliers for technical maintenance, ensuring timely access to specialised paediatric care for affected newborns, and securing sustainable financial funding. Scaling up is challenging but feasible, particularly with a targeted focus on identified complex challenges.
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Viscosity-vaso-occlusion (VVO) and haemolysis-endothelial dysfunction (HED) are pathophysiological mechanisms and clinical subphenotypes of sickle cell disease (SCD). Recurrent vaso-occlusive crises (VOC) may lead to neuroplastic changes and pain sensitization. Among 257 SCD participants, we assessed the relationship of subphenotypes with pain sensitivity using quantitative sensory testing to identify heat pain thresholds (HPT) and pressure pain thresholds (PPT). VOC history and sleep, social and emotional functioning were assessed using the Adult Sickle Cell Quality of Life Measurement Information System. The 'elbow method' determined the optimal number of clusters as three. Clustering was performed using K-prototypes. Among clusters 2 and 3, VOC frequency and severity were higher. Clusters 1 and 3 had lower haemoglobin, higher reticulocytes and lactate dehydrogenase and more leg ulcers. In multivariate regression, cluster 3 was associated with approximately 13.6% lower PPT compared to cluster 1, and female sex was associated with decreases in PPT and HPT at the hands and feet (p < 0.001). Hydroxyurea use and unit increases in sleep functioning and age were associated with approximately 20.1% higher foot-PPT, 6.8% higher hand-PPT and 2.5% higher hand-HPT and foot-HPT respectively. Findings suggest that a third subphenotype with mixed VVO and HED features and worse pain sensitization may exist.
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Anemia Falciforme , Viscosidade Sanguínea , Hemólise , Humanos , Anemia Falciforme/complicações , Anemia Falciforme/fisiopatologia , Masculino , Feminino , Adulto , Limiar da Dor , Jamaica , Dor/etiologia , Dor/fisiopatologia , Adulto Jovem , Endotélio Vascular/fisiopatologia , Pessoa de Meia-Idade , Adolescente , Qualidade de Vida , População do CaribeRESUMO
Objectives: French Guiana also suffered concrete epidemiological consequences of the SARS-CoV2 epidemic. These regions are home to a large number of sickle cell patients who are at risk of developing severe forms of COVID-19. This study aimed to describe the characteristics and prognosis of patients with sickle disease infected with SARS-CoV2 during the first and second epidemic waves of 2020 in French Guiana. Design: We conducted a multicenter, retrospective cohort study that included sickle cell patients followed up in French Guiana. Results: Among the 79 patients infected with SARS-CoV2, there were 26 children <18 years. Forty-two patients were hospitalized and 37 were outpatients. Respiratory illness (38 %), vaso-occlusive crises (18 %), and acute chest syndrome (8 %) were the main causes of hospitalization. There were two cases of pulmonary embolism and one case of deep limb thrombosis. Seven patients were transferred to the ICU. Of these, three received mechanical ventilation, and two died. The deceased patients had the SS phenotype (a 16-year-old boy and a 32-year-old man), both of whom exhibited severe pneumonitis complicated by COVID-19. Conclusion: Despite the two deaths, the overall outcome was favorable.
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Our group generated two induced pluripotent stem cell (iPSC) lines for in vitro red blood cell (RBC) production from blood donors with extensively known erythrocyte antigen profiles. One line was intended to give rise to RBCs for transfusions in patients with sickle cell disease (SCD), while the other was developed to create RBC panel reagents. Two blood donors were selected based on their RBC phenotypes, further complemented by high-throughput DNA array analysis to obtain a more comprehensive erythrocyte antigen profile. Enriched erythroblast populations from the donors' peripheral blood mononuclear cells were reprogrammed into iPSCs using nonintegrative plasmid vectors. The iPSC lines were characterized and subsequently subjected to hematopoietic differentiation. iPSC PB02 and iPSC PB12 demonstrated in vitro and in vivo iPSC features and retained the genotype of each blood donor's RBC antigen profile. Colony-forming cell assays confirmed that iPSC PB02 and iPSC PB12 generated hematopoietic progenitors. These two iPSC lines were generated with defined erythrocyte antigen profiles, self-renewal capacity, and hematopoietic differentiation potential. With improvements in hematopoietic differentiation, these cells could potentially be more efficiently differentiated into RBCs in the future. They could serve as a complementary approach for obtaining donor-independent RBCs and addressing specific demands for blood transfusions.
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Doadores de Sangue , Diferenciação Celular , Eritrócitos , Células-Tronco Pluripotentes Induzidas , Células-Tronco Pluripotentes Induzidas/citologia , Células-Tronco Pluripotentes Induzidas/metabolismo , Humanos , Eritrócitos/metabolismo , Eritrócitos/citologia , Linhagem Celular , Animais , Antígenos de Grupos Sanguíneos , Camundongos , Anemia Falciforme/terapia , Anemia Falciforme/sangueRESUMO
Background: Sickle cell disease is one of the most common genetic diseases in France. In French Guiana, neonatal screening was introduced in 1992, at the same time as other screening programs for childhood diseases. The aim of this study is to describe the organization of newborn screening for sickle cell disease in French Guiana. Materials and methods: We used several data sources: data collected from hospital records since 2005, activity reports from the national neonatal screening program and data from screening campaigns organized by the Drepaguyane association between 2010 and 2021 on 1,300 subjects. Blood samples from newborns are collected by capillary or venous sampling and absorbed on blotting paper (Guthrie) at the same time as those for other neonatal screenings. The dried papers are sent to the inter-regional laboratory in Lille, for further processing. In Saint-Laurent-du-Maroni, in order to reduce the proportion of people lost to follow-up, a double screening is carried out and the results are returned before discharge from the maternity hospital. All data were entered into an anonymous Excel file. The data were analyzed using STATA software. Results: Among the 175,593 screened neonates between 1992 and 2021, screening detected 823 infants with sickle cell disease and 17,950 heterozygotes. Sickle cell genotypes include 493 SS (60%), 302 SC (37%) and 28 S-Beta-thalassemia (3%). The incidence of sickle cell disease was 1/213, 95% CI [1/236-1/204], and that of heterozygotes 1/10, IC 95% [1/12-1/8]. The majority of these children (52%) were from the Maroni region. The delay between screening and test results was 7 days. Only pathological results (homozygous, heterozygous) were communicated to parents and/or the attending physician by post. These data confirm the upward trend in the number of children screened for sickle cell disease in French Guiana. Data from screening campaigns organized by the Drepaguyane association have enabled to describe the distribution of the various abnormal hemoglobin fractions, and to confirm that HbS is more frequent in Western French Guiana. In Cayenne, in 2021, the active file comprised 699 patients, including 266 children under 18 years old. Discussion and conclusion: This study provides valuable data on 30 years of neonatal screening for sickle cell disease in French Guiana, and on the evolution of sickle cell disease patients. It confirms that French Guiana is the French territory with the highest incidence of sickle cell disease. This incidence continues to rise over time. The study reveals the improvement in the organization of sickle cell disease management in French Guiana between 1992, when screening was introduced, and the present day. It highlights the role of patient associations in the fight against this disease, by organizing awareness and screening campaigns. These data will be used to guide public health policies in the pursuit of improved care and primary prevention.
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Anemia Falciforme , Triagem Neonatal , Humanos , Anemia Falciforme/epidemiologia , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Guiana Francesa/epidemiologia , Triagem Neonatal/métodos , Recém-Nascido , Feminino , Fatores de TempoRESUMO
ABSTRACT Hemoglobinopathies constitute one of the most common inherited hematological disorders in the world with an increasing global disease burden each year. One among them is sickle cell disease with diverse genotypes and wide phenotypic heterogenity. Many subgroups exist within the umbrella of sickle cell disease. Hb S/DPunjab, a rare hemoglobinopathy, is one of them, mimics sickle cell disease, and is discussed in the present study. We describe one such unusual clinical case of a young child who presented with intermittent fever and joint problems. The study case was found to have Hb S/DPunjab by high performance liquid chromatography. Clinical and hematological details of this rare condition is only briefly discussed in the literature. Precise diagnosis can be made using high performance liquid chromatography in conjunction with family studies.
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Introduction: This study aimed to describe the evolution of bone regeneration in children with hip osteonecrosis associated with sickle cell disease, treated with bone marrow-derived mesenchymal stem cell implants at the Professor Edgar Santos University Hospital Complex. Materials and methods: A non-randomized clinical trial was conducted with 48 patients of both sexes, aged between 11 and 18 years, diagnosed with femoral head osteonecrosis secondary to sickle cell disease. Patient selection was based on strict criteria, including confirmed diagnosis of sickle cell anemia and a stage of osteonecrosis compatible with the proposed treatment. Bone regeneration assessment was performed through radiographic examinations and magnetic resonance imaging, following the Ficat & Arlet criteria and the Salter-Thompson classification. Results: Statistical analysis revealed a significant association between the patients' age and positive treatment outcomes, suggesting that autologous bone marrow cell implantation is a safe and effective approach in the early stages of osteonecrosis. The majority of patients (87.5%) reported complete pain relief, while 10.42% experienced significant symptom improvement. Only one patient (2.08%) did not observe improvement. The results indicate that cell therapy can regenerate or slow the progression of bone necrosis, reducing the need for more invasive surgical procedures. Conclusion: The study demonstrates the potential of bone marrow-derived mesenchymal stem cell implantation in treating hip osteonecrosis in children with sickle cell disease, emphasizing the importance of long-term monitoring of bone structure stability.
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Objectives: Our study evaluated the association of the polymorphism rs724016 in the ZBTB38 gene, previously associated with height in other populations, with predictors of height, clinical outcomes, and laboratory parameters in sickle cell anemia (SCA). Methods: Cross-sectional study with individuals with SCA and aged between 3 and 20 years. Clinical, laboratory, molecular, and bone age (BA) data were evaluated. Levels of IGF-1 and IGFBP-3 were adjusted for BA, target height (TH) was calculated as the mean parental height standard deviation score (SDS), and predicted adult height (PAH) SDS was calculated using BA. Results: We evaluated 80 individuals with SCA. The homozygous genotype of the G allele of rs724016 was associated with a lower height SDS (p < 0.001) and, in a additive genetic model, was negatively associated with HbF levels (p = 0.016). Lower adjusted IGF-1 levels were associated with co-inheritance of alpha-thalassemia and with the absence of HU therapy. Elevated HbF levels were associated with a lower deficit in adjusted growth potential (TH minus PAH). Conclusion: Our analysis shows that SNP rs724016 in the ZBTB38 is associated with shorter height and lower HbF levels, an important modifier of SCA.
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Sickle cell disease (SCD) is a hereditary hemoglobinopathy, caused by a mutation at position 6 of the ß-globin chain and patients are frequently exposed to several blood transfusions in order to maintain physiological function. Transfusion blood bags are composed of PVC and phthalates (as DEHP) are often introduced to the material in order to confer malleability. In this sense, DEHP can easily elute to the blood and cause harmful effects. This study aimed to unravel DEHP effect on SCD patient's hemoglobin function. We found that HbS polymerization using whole erythrocytes is decreased by DEHP in ex vivo experiments and this effect might be mediated by the DEHP-VAL6 interaction, evaluated in silico. Isolated HbS exhibited less polymerization at low DEHP concentrations and increased polymerization rate at higher concentration. When analyzing the propensity to aggregate, HbS is more inclined to aggregate when compared to HbA due to the residue 6 mutation. Circular dichroism showed characteristic hemoglobin peaks for oxygenated HbS that are lost when oxygen is sequestered, and DEHP at higher concentration mildly recovers a peak close to the second hemoglobin one. Finally, by transmission electron microscopy we demonstrated that high DEHP concentration increased polymer formation with a more organized structure. These findings show for the first-time the beneficial effect of low-dose DEHP on HbS polymerization.
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Anemia Falciforme , Dietilexilftalato , Eritrócitos , Hemoglobina Falciforme , Polimerização , Humanos , Anemia Falciforme/genética , Anemia Falciforme/metabolismo , Hemoglobina Falciforme/genética , Hemoglobina Falciforme/metabolismo , Eritrócitos/efeitos dos fármacos , Eritrócitos/metabolismo , Dietilexilftalato/toxicidade , Simulação por ComputadorRESUMO
Sickle cell disease (SCD) patients are at higher risk of developing silent cerebral infarcts and overt stroke, which may reflect cognitive impairment, functional limitations, and worse quality of life. The cognitive function of Brazilian adult SCD patients (n = 124; 19-70 years; 56 men; 79 SS, 28 SC, 10 S/ß0, 7 S/ß+) was screened through Montreal Cognitive Assessment (MoCA) and correlated the results with possible predictive factors for test performance, including sociocultural, clinical, laboratory data and brain imaging. The Median MoCA score was 23 (8-30); 70% had a 25-or-less score, suggesting some level of cognitive impairment. There were no significant associations between MoCA results and any clinical or laboratory data in SS and SC patients; however, a significant correlation (P = 0.03) with stroke was found in HbS/ß-thalassemic patients. Correlations were further detected according to sociodemographic conditions, such as age (r = -0.316; P < 0.001), age at first job (r = 0.221; P = 0.018), personal (r = 0.23; P = 0.012) and per capita familiar incomes (r = 0.303; P = 0.001), personal (r = 0.61; P = 0), maternal (r = 0.536; P = 0), and paternal educational status (r = 0.441; P = 0). We further sought independent predictors of performance using multivariable regressions and increased education was an independent predictor of better scores in MoCA (0.8099, 95% confidence interval [CI]: 0.509-1.111). Brain imaging analysis showed significant and progressive atrophy in important cerebral areas related to memory, learning, and executive function. These data point to the high prevalence and impact of cognitive decline in adult SCD patients, mirrored in brain atrophic areas. It is also possible to observe the influence of sociodemographic conditions on patients' cognitive performances and the need for creating focused therapeutic plans that address these deficiencies. Moreover, the absence of a significant correlation of MoCA values with stroke in the SS and SC groups may be related to the worst sociocultural and economic conditions of the Brazilian African descent population, in which the impact of low educational stimulation on cognitive function can outweigh even the anatomical damage caused by the disease.
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Poor sleep and chronic illnesses have a bidirectional relationship where presence of one can worsen the other. Sickle cell disease (SCD) is associated with significant morbidity and early mortality. In this study, we examine sleep quality, its predictors, and its association with quality of life in Jamaican adults with SCD. This cross-sectional study evaluated 177 well adult SCD patients for sleep quality using The Pittsburgh Sleep Quality Index (PSQI) and quality of life using the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me). Multiple linear regression models examined the predictors of poor sleep quality. The mean global PSQI score was 6.9 (SD 4.2) with 56.5% having poor sleep quality. Women had significantly worse scores for sleep efficiency (p 0.005), sleep latency (p 0.03) and higher use of sleeping medications (p 0.02). Those overweight/obese had significantly worse subjective sleep quality (p 0.001) and sleep efficiency (p 0.05). In multivariate regression analysis, overweight individuals had poorer sleep quality (OR: 2.9; 95% C.I.: 1.07, 7.88) than those with normal weight whereas those unemployed and looking for a job had lower prevalence of poor sleep quality (OR 0.2; 95% C.I.: 0.05, 0.77) compared to employed individuals. Participants with good sleep quality had significantly better functioning in all 5 domains of the ASCQ-Me. In conclusion, persons with SCD who are overweight or obese are at increased risk of poor sleep which can negatively affect quality of life. Patient populations and healthcare providers will need to manage the emerging burden of overweight/obesity.
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Anemia Falciforme , Qualidade de Vida , Qualidade do Sono , Humanos , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Feminino , Masculino , Adulto , Jamaica/epidemiologia , Fatores de Risco , Prevalência , Estudos Transversais , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Pessoa de Meia-Idade , Adulto Jovem , Inquéritos e QuestionáriosRESUMO
OBJECTIVES: Sickle cell disease (SCD) occurs in 2.8â¯% of our Jamaican antenatal population with homozygous HbSS being most associated with adverse maternal and perinatal outcomes. METHODS: A retrospective comparative analysis of HbSS, HbSC and HbSßThal pregnancy outcomes at the University Hospital of the West Indies (UHWI) between January 2012 and December 2022 was conducted. RESULTS: Of 120 patients (138 pregnancies), obesity occurred in 36â¯% (20/56) of the 'non-HbSS' group, i.e. HbSßThal (55â¯%, 5/9) and HbSC (32â¯%, 15/47) combined vs. 9.7â¯% of the HbSS (8/82). HbSS patients had more crises requiring transfusions, acute chest syndrome (ACS), maternal 'near-misses' (OR=10.7, 95â¯% 3.5-32.3; p<0.001), hospitalizations (OR 7.6, 95â¯% CI 3.4-16.9; p<0.001), low birth weight (LBW) neonates (OR 3.1, 1.1-8.9; p=0.037) and preterm birth (OR=2.6, 1.2-5.8; p=0.018) compared to HbSC and HbSßThal. Low dose aspirin was prescribed in 43â¯%. Logistic regression showed those NOT on aspirin (n=76) had more miscarriages (22 v. 2â¯%), were LESS likely to have a live birth (75 v. 95â¯% (0.2, 0.04-0.57, p=0.005)), but surprisingly had fewer painful crises (28 v. 46â¯% (0.5, 0.03-0.9, p=0.03)). CONCLUSIONS: HbSS women had a 10-fold excess of maternal near-misses. Additional research may further clarify the effects of aspirin on pregnancy outcomes as related to SCD genotypes.
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Anemia Falciforme , Aspirina , Complicações Hematológicas na Gravidez , Resultado da Gravidez , Humanos , Feminino , Gravidez , Jamaica/epidemiologia , Estudos Retrospectivos , Adulto , Aspirina/uso terapêutico , Aspirina/administração & dosagem , Resultado da Gravidez/epidemiologia , Anemia Falciforme/complicações , Anemia Falciforme/tratamento farmacológico , Anemia Falciforme/epidemiologia , Complicações Hematológicas na Gravidez/tratamento farmacológico , Complicações Hematológicas na Gravidez/epidemiologia , Recém-Nascido , Adulto JovemRESUMO
Reduced-intensity conditioning (RIC) regimens have the potential to decrease toxicities related to hematopoietic stem cell transplantation (HCT) in patients with sickle cell disease (SCD). While initial results may have been acceptable in adults and young adults, there are no well-established strategies in children with SCD. Here, it is described the clinical course of two children with symptomatic SCD who have successfully undergone HSCT using Fludarabin-based conditioning.
RESUMO
Sickle cell disease (SCD) comprises inherited red blood cell disorders due to a mutation in the ß-globin gene (c20A > T, pGlu6Val) and is characterized by the presence of abnormal hemoglobin, hemoglobin S, hemolysis, and vaso-occlusion. This mutation, either in a homozygous configuration or in compound states with other ß-globin mutations, leads to polymerization of hemoglobin S in deoxygenated conditions, causing modifications in red blood cell shape, particularly sickling. Vaso-occlusive crisis (VOC) is the hallmark of the disease, but other severe complications may arise from repeated bouts of VOCs. SCD is considered a global health problem, and its incidence has increased in some areas of the world, particularly the Americas and Africa. Management of the disease varies according to the region of the world, mainly due to local resources and socioeconomic status. This review aimed to describe more recent data on SCD regarding available treatment options, especially in Brazil. New treatment options are expected to be available to all patients, particularly crizanlizumab, which is already approved in the country.
Assuntos
Anemia Falciforme , Anemia Falciforme/epidemiologia , Anemia Falciforme/terapia , Anemia Falciforme/genética , Anemia Falciforme/tratamento farmacológico , Humanos , Brasil/epidemiologia , Gerenciamento Clínico , Anticorpos Monoclonais Humanizados/uso terapêutico , Mutação , Hemoglobina Falciforme/genéticaRESUMO
Sickle Cell Disease (SCD) is a hereditary disease characterized by extravascular and intravascular hemolysis and clinical variability, from mild pain to potentially life-threatening. Arboviruses include mainly Zika (ZIKV), Chikungunya (CHKV), and Dengue (DENV) virus, and are considered a public and social health problem. The present cross-sectional observational study aimed to investigate the prevalence of arbovirus infection in SCD patients from two Brazilian cities, Salvador and Manaus located in Bahia and Amazonas states respectively. A total of 409 individuals with SCD were included in the study, and 307 (75.06 %) patients tested positive for DENV-IgG, 161 (39.36 %) for ZIKV-IgG, and 60 (14.67 %) for CHIKV-IgG. Only one individual was positive for DENV-NS1 and another for DENV-IgM, both from Salvador. No individuals had positive serology for ZIKV-IgM or CHIKV-IgM. Arbovirus positivity by IgG testing revealed that the SCD group presented high frequencies in both cities. Interestingly, these differences were only statistically significant for ZIKV-IgG (p = 0.023) and CHIKV-IgG (p = 0.005) among SCD patients from Manaus. The reshaping of arbovirus from its natural habitat by humans due to disorderly urban expansion and the ease of international Mobility has been responsible for facilitating the spread of vector-borne infectious diseases in humans. We found the need for further studies on arboviruses in this population to elucidate the real association and impact, especially in acute infection. We hope that this study will contribute to improvements in the personalized clinical follow-up of SCD patients, identifying the influence of arbovirus infection in severe disease manifestations.