RESUMEN

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).

Asunto(s)

Anemia Aplásica , Anemia de Células Falciformes , Humanos , Jamaica/epidemiología , Masculino , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/terapia , Anemia de Células Falciformes/complicaciones , Adolescente , Niño , Femenino , Preescolar , Anemia Aplásica/epidemiología , Anemia Aplásica/diagnóstico , Anemia Aplásica/terapia , Anemia Aplásica/etiología , Lactante , Recién Nacido , Estudios de Cohortes , Adulto Joven , Adulto , Prevalencia , Tamizaje Neonatal

Asunto(s)

Dolor Agudo , Anemia de Células Falciformes , Adulto , Humanos , Dolor Agudo/etiología , Anemia de Células Falciformes/complicaciones , Manejo del Dolor/métodos

RESUMEN

INTRODUCTION: Sickle cell disease (SCD) is a genetic disorder with a high infectious morbidity and mortality and a heterogeneous distribution in France. One of the challenges is to differentiate a bone and joint infection (BJI) from a vaso-occlusive crisis. This challenge is particularly prevalent in French Guiana, an overseas territory with the highest incidence of SCD in France. The aim of this study was to describe the epidemiology of BJI in children with SCD in French Guiana. METHOD: This was a retrospective multicentric descriptive study of SCD patients living in French Guiana aged under 18 and diagnosed with a BJI between 2010 and 2022. These BJI were divided into 2 groups: those with microbiological documentation (d-BJI) and those without microbiological identification (ud-BJI). RESULTS: A total of 53 episodes of BJI in 42 patients (mean age 7.2 years) were reported. Clinical symptoms on arrival were comparable between the d-BJI and ud-BJI groups. Patients in the d-BJI group had longer average hospital stays (40.4 days vs. 16.8 days, P = 0.01) and Salmonella spp. were the most identified bacteria (n = 8/13). White blood cell count was greater in the d-BJI group (30.3 G/L vs. 18.G/L, P = 0.01) and a collection was more frequently identified on imaging (11/13 vs. 16/40, P = 0.01) in this group. Initial in-hospital antibiotic therapy was longer in the d-BJI group (17.2 days vs. 12.8, P = 0.02), as were infection-related complications (9/13 vs. 12/40 P = 0.01). CONCLUSION: BJI in children with SCD is not sufficiently microbiologically documented. Progress must be made to improve the documentation of BJI.

Asunto(s)

Anemia de Células Falciformes , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Guyana Francesa/epidemiología , Estudios Retrospectivos , Niño , Femenino , Masculino , Adolescente , Preescolar , Lactante , Artritis Infecciosa/microbiología , Artritis Infecciosa/epidemiología , Osteomielitis/epidemiología , Osteomielitis/microbiología , Antibacterianos/uso terapéutico

RESUMEN

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.

Asunto(s)

Anemia de Células Falciformes , Viscosidad Sanguínea , Hemólisis , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/fisiopatología , Masculino , Femenino , Adulto , Umbral del Dolor , Jamaica , Dolor/etiología , Dolor/fisiopatología , Adulto Joven , Endotelio Vascular/fisiopatología , Persona de Mediana Edad , Adolescente , Calidad de Vida , Pueblos Caribeños

RESUMEN

OBJECTIVE: The ability to cause death is the definitive measure of an infectious disease severity, particularly one caused by a novel pathogen like severe acute respiratory syndrome-CoV-2 (COVID-19). This study describes sickle cell disease-related mortality issues during the COVID-19 pandemic in Brazil. METHODS: The provisional 2020 mortality data originated from the public databases of the Mortality Information System and were investigated using the multiple-cause-of-death methodology. RESULTS: In 2020, 688 sickle cell disease-related deaths occurred, of which 422 (61.3%) had an underlying cause of death and 266 (38.7%) had an associated cause of death. Furthermore, 98 COVID-19-related deaths occurred, of which 78 were underlying cause of death among sickle cell disease associated (non-underlying) cause of death. Sickle cell disease-related deaths occurred mostly among young adults aged 25-49 years. COVID-19 deaths occurred at ages older than among sickle cell disease-related deaths. Majority of deaths happened in the southeast (42.3%) and northeast regions (34.0%), while COVID-19 deaths prevailed in the northeast region (42.9%). Regarding overall deaths, the leading underlying cause of death was sickle cell disease itself, followed by infectious and parasitic diseases (14.8%), owing to COVID-19 deaths, and diseases of the circulatory system (8.9%). Next, in males, diseases of the digestive system (4.8%) occurred, while, in females, maternal deaths succeeded, included in the chapter on pregnancy, childbirth, and the puerperium, accounting for 5.9% of female deaths. The leading overall associated (non-underlying) cause of deaths were septicemias (29.4%), followed by respiratory failure (20.9%), pneumonias (18.3%), and renal failure (14.7%). CONCLUSION: In Brazil, COVID-19 deaths produced trend changes in sickle cell disease-related causes of death, age at death, and regional distribution of deaths in 2020.

Asunto(s)

Anemia de Células Falciformes , COVID-19 , Causas de Muerte , Humanos , COVID-19/mortalidad , COVID-19/epidemiología , Anemia de Células Falciformes/mortalidad , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Brasil/epidemiología , Adulto , Femenino , Persona de Mediana Edad , Masculino , Adulto Joven , SARS-CoV-2 , Adolescente , Niño , Pandemias , Anciano , Preescolar , Distribución por Edad

RESUMEN

OBJECTIVE: To describe two cases of patients who had thrombotic microangiopathy (TMA) associated with sickle cell disease (SCD). CASE DESCRIPTION: Both patients started with a painful crisis and had acute chest syndrome during hospitalization. They showed significant worsening of hemolytic anemia, with very high levels of lactate dehydrogenase, thrombocytopenia, lowered level of consciousness, organ damage and the presence of schistocytes in peripheral blood. Due to the possibility of TMA, despite the very rare association with SCD, they were treated with fresh frozen plasma replacement and plasmapheresis, with good response. COMMENTS: TMA is a serious, life-threatening disease, characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage. The association of SCD and TMA is difficult to diagnose, since they can share a similar clinical presentation. Recognizing this association and promptly instituting treatment may impact the survival of these patients.

Asunto(s)

Anemia de Células Falciformes , Microangiopatías Trombóticas , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/terapia , Microangiopatías Trombóticas/etiología , Microangiopatías Trombóticas/terapia , Microangiopatías Trombóticas/diagnóstico , Masculino , Femenino , Niño , Adolescente

RESUMEN

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.

Asunto(s)

Anemia de Células Falciformes , Calidad de Vida , Calidad del Sueño , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Femenino , Masculino , Adulto , Jamaica/epidemiología , Factores de Riesgo , Prevalencia , Estudios Transversales , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/etiología , Persona de Mediana Edad , Adulto Joven , Encuestas y Cuestionarios

RESUMEN

This study validated the content of an instrument designed to assess the knowledge, involvement (attitudes) and management (practice) of dentists relative to sickle-cell disease (KAPD-SCD). The instrument consisted of five domains composed of a total of thirteen items: I. Dentist's self-assessment relative to sickle-cell disease; II. Dentist's knowledge of the repercussions of sickle-cell disease on the stomatognathic system; III. Dentist's knowledge of the complications of sickle-cell disease in the stomatognathic system; IV. Dentist's knowledge concerning the dental management of sickle-cell disease patients; and V. Dentist's involvement in an approach to sickle-cell disease. Twelve experts assigned scores to each item of the instrument. The criteria were clarity, understanding and appropriateness, leaving open fields for comments. Descriptive and content analyses of the data were made. Each expert analyzed 39 assessment units. The percentages considered for agreement were high (>80%), medium (70%-80%), or low (<70%), and each item was maintained or revised according to the percentage observed. There was high consensus in 74% of the assessment units (the corresponding items were maintained), medium consensus in 24% of them (the corresponding items were revised), and disagreement in 2% of them, namely as regards the "appropriateness" of item 5 ("Are there oral complications in sickle-cell disease?"), which was revised. The final version of the instrument had 16 items for different applications such as in the clinical care program, teaching program, or research program, with different cut-off scores for each application. In conclusion, the level of agreement among experts showed evidence of the content validity of the instrument.

Asunto(s)

Anemia de Células Falciformes , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/terapia , Odontólogos , Encuestas y Cuestionarios

RESUMEN

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.

Asunto(s)

Anemia de Células Falciformes , Infecciones por Arbovirus , Arbovirus , Humanos , Brasil/epidemiología , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/complicaciones , Estudios Transversales , Masculino , Femenino , Adulto , Prevalencia , Infecciones por Arbovirus/epidemiología , Infecciones por Arbovirus/virología , Adulto Joven , Adolescente , Arbovirus/aislamiento & purificación , Inmunoglobulina G/sangre , Niño , Infección por el Virus Zika/epidemiología , Infección por el Virus Zika/complicaciones , Anticuerpos Antivirales/sangre , Persona de Mediana Edad , Dengue/epidemiología , Inmunoglobulina M/sangre , Virus del Dengue/inmunología , Virus Zika/inmunología , Virus Zika/aislamiento & purificación , Preescolar , Fiebre Chikungunya/epidemiología , Fiebre Chikungunya/complicaciones

RESUMEN

Approximately 3% of pregnant women have sickle cell disease (SCD). COVID-19, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), became a global pandemic in March 2020, resulting in more than 3,500 deaths in Jamaica by April 2023. Sickle cell disease is an immunocompromised state; therefore, contracting COVID-19 may result in adverse maternal/neonatal outcomes. Current literature focusing on individuals of Afro-Caribbean descent is limited. Our objective was to describe the obstetric and neonatal outcomes of pregnant patients with SCD who contracted COVID-19. A retrospective case series was conducted at the University Hospital of the West Indies (Jamaica) from 2020 to 2022. We describe the maternal and neonatal outcomes of three patients with COVID-19 and SCD (including two with hemoglobin SC disease and one with hemoglobin SS disease), with complications including the demise of a mother and a newborn. Vaso-occlusive crisis was the more common presentation. Two patients required ventilatory support. Although previous reports have shown similar clinical sequelae in pregnant and nonpregnant patients with SCD and COVID-19, maternal and neonatal deaths remain possible.

Asunto(s)

Anemia de Células Falciformes , COVID-19 , Complicaciones Infecciosas del Embarazo , SARS-CoV-2 , Humanos , COVID-19/complicaciones , COVID-19/mortalidad , COVID-19/epidemiología , Femenino , Embarazo , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/mortalidad , Adulto , Recién Nacido , Complicaciones Infecciosas del Embarazo/virología , Complicaciones Infecciosas del Embarazo/mortalidad , Complicaciones Hematológicas del Embarazo/epidemiología , Jamaica/epidemiología , Estudios Retrospectivos , Resultado del Embarazo

RESUMEN

OBJECTIVES: Sickle cell disease (SCD) occurs in 2.8 % 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 36 % (20/56) of the 'non-HbSS' group, i.e. HbSßThal (55 %, 5/9) and HbSC (32 %, 15/47) combined vs. 9.7 % of the HbSS (8/82). HbSS patients had more crises requiring transfusions, acute chest syndrome (ACS), maternal 'near-misses' (OR=10.7, 95 % 3.5-32.3; p<0.001), hospitalizations (OR 7.6, 95 % 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 43 %. Logistic regression showed those NOT on aspirin (n=76) had more miscarriages (22 v. 2 %), were LESS likely to have a live birth (75 v. 95 % (0.2, 0.04-0.57, p=0.005)), but surprisingly had fewer painful crises (28 v. 46 % (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.

Asunto(s)

Anemia de Células Falciformes , Aspirina , Complicaciones Hematológicas del Embarazo , Resultado del Embarazo , Humanos , Femenino , Embarazo , Jamaica/epidemiología , Estudios Retrospectivos , Adulto , Aspirina/uso terapéutico , Aspirina/administración & dosificación , Resultado del Embarazo/epidemiología , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/tratamiento farmacológico , Anemia de Células Falciformes/epidemiología , Complicaciones Hematológicas del Embarazo/tratamiento farmacológico , Complicaciones Hematológicas del Embarazo/epidemiología , Recién Nacido , Adulto Joven

RESUMEN

The occurrence and severity of osteonecrosis in sickle cell anaemia (SCA) vary due to risk factors, including genetic modifiers. Bone morphogenetic proteins (BMPs), particularly BMP6, and the vitamin D receptor (VDR) play key roles in cartilage and bone metabolism, making them potential contributors to orthopaedic outcomes in SCA. Here, we evaluated the association of polymorphisms in BMP6 (rs3812163, rs270393 and rs449853) and VDR (FokI rs2228570 and Cdx2 rs11568820) genes with osteonecrosis risk in a Brazilian SCA cohort. A total of 177 unrelated SCA patients were selected. The AA genotype of BMP6 rs3812163 was independently associated with a lower osteonecrosis risk (p = 0.015; odds ratio (OR): 0.38; 95% confidence interval (CI): 0.18-0.83) and with the long-term cumulative incidence of osteonecrosis (p = 0.029; hazard ratio: 0.56, 95% CI: 0.34-0.94). The VDR rs2228570 TT genotype was independently associated with a lower osteonecrosis risk (p = 0.039; OR: 0.14; 95% CI: 0.02-0.90). In summary, our results provide evidence that BMP6 rs3812163 and the VDR rs2228570 might be implicated in osteonecrosis pathophysiology in SCA and might help identify individuals at high risk.

Asunto(s)

Anemia de Células Falciformes , Osteonecrosis , Humanos , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Osteonecrosis/genética , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/genética , Genotipo , Estudios de Casos y Controles , Proteína Morfogenética Ósea 6/genética , Receptores de Calcitriol/genética

RESUMEN

Ischemic stroke (IS) is one of the most impairing complications of sickle cell anemia (SCA), responsible for 20% of mortality in patients. Rheological alterations, adhesive properties of sickle reticulocytes, leukocyte adhesion, inflammation and endothelial dysfunction are related to the vasculopathy observed prior to ischemic events. The role of the vascular endothelium in this complex cascade of mechanisms is emphasized, as well as in the process of ischemia-induced repair and neovascularization. The aim of the present study was to perform a comparative transcriptomic analysis of endothelial colony-forming cells (ECFCs) from SCA patients with and without IS. Next, to gain further insights of the biological relevance of differentially expressed genes (DEGs), functional enrichment analysis, protein-protein interaction network (PPI) construction and in silico prediction of regulatory factors were performed. Among the 2469 DEGs, genes related to cell proliferation (AKT1, E2F1, CDCA5, EGFL7), migration (AKT1, HRAS), angiogenesis (AKT1, EGFL7) and defense response pathways (HRAS, IRF3, TGFB1), important endothelial cell molecular mechanisms in post ischemia repair were identified. Despite the severity of IS in SCA, widely accepted molecular targets are still lacking, especially related to stroke outcome. The comparative analysis of the gene expression profile of ECFCs from IS patients versus controls seems to indicate that there is a persistent angiogenic process even after a long time this complication has occurred. Thus, this is an original study which may lead to new insights into the molecular basis of SCA stroke and contribute to a better understanding of the role of endothelial cells in stroke recovery.

Asunto(s)

Anemia de Células Falciformes , Accidente Cerebrovascular , Humanos , Células Endoteliales/metabolismo , Transcriptoma , Accidente Cerebrovascular/genética , Accidente Cerebrovascular/complicaciones , Anemia de Células Falciformes/complicaciones , Isquemia , Perfilación de la Expresión Génica , Proteínas de Unión al Calcio/genética , Proteínas de Unión al Calcio/metabolismo , Familia de Proteínas EGF/genética , Familia de Proteínas EGF/metabolismo

RESUMEN

Sickle cell disease (SCD) is associated with a high occurrence of complications due to vaso-occlusive phenomenon such as stroke. This retrospective cohort study aimed to examine the clinical and laboratory characteristics of 120 children and adolescents with SCD and analyze the factors associated with overt stroke incidence. All relevant data were obtained from patient medical records. Survival analysis was used to compare the demographic, clinical, and laboratory characteristics between patients with and those without overt stroke. The patients were 52.5% female with a mean (SD) age of 11.2 (4.3) years. The incidence of overt stroke in this cohort was nine out of 956.7 patient-years, resulting in an incidence density of 0.94 cases/100 patient-years. Reports of greater than or equal to two previous attacks of dactylitis and greater than or equal to three episodes of acute chest syndrome (ACS)/pneumonia were associated with overt stroke and an increase in reticulocyte count and red blood cell distribution width (RDW). In conclusion, a history of a high number of dactylitis, ACS/pneumonia, increased RDW, and reticulocytosis was associated with overt stroke occurrence in children and adolescents with SCD. Future studies with a higher stroke incidence in the evaluated sample are necessary to confirm this hypothesis.

Asunto(s)

Síndrome Torácico Agudo , Anemia de Células Falciformes , Neumonía , Accidente Cerebrovascular , Niño , Humanos , Adolescente , Femenino , Masculino , Estudios Retrospectivos , Hidroxiurea , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Síndrome Torácico Agudo/etiología , Síndrome Torácico Agudo/complicaciones , Neumonía/complicaciones

Asunto(s)

Anemia de Células Falciformes , Enfermedades Vasculares , Ratones , Animales , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/tratamiento farmacológico , Pulmón , Inyecciones Subcutáneas

RESUMEN

OBJECTIVES: Stroke is a devastating clinical outcome that significantly contributes to the morbidity and mortality of sickle cell anemia (SCA) patients. Despite its advantages in predicting stroke risk, transcranial Doppler screening has limitations that restrict its applicability, highlighting the need for emerging prognostic tools. Thrombospondin-1 plays a crucial role in endothelial injury, platelet adhesion, and nitric oxide metabolism and may be implicated in stroke pathophysiology. Here, we aimed to evaluate the association of THBS1 genetic variations with the occurrence of stroke in SCA patients MATERIALS AND METHODS: By real-time PCR, 512 SCA patients were fully genotyped for THBS1 A-296G (rs1478605) polymorphism RESULTS: THBS1 GG genotype was associated with a lower risk for stroke occurrence [odds ratio (OR): 0.30; 95% confidence interval (CI): 0.11-0.78; P = 0.011], although these findings were not consistent with multivariate logistic regression analysis (OR: 0.73, 95% CI: 0.12 - 4.37; P = 0.736). In agreement, the cumulative incidence of stroke for patients with AG/AA genotypes was higher when compared to the GG genotype (P = 0.018). However, the association was not maintained in the multivariate proportional hazards model (hazard ratio: 0.67, 95% CI: 0.12-3.61; P = 0.643) CONCLUSIONS: In summary, the present study shows that the THBS1 A-296G (rs1478605) polymorphism may be a potential modifier for stroke in SCA.

Asunto(s)

Anemia de Células Falciformes , Accidente Cerebrovascular , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Brasil/epidemiología , Genotipo , Polimorfismo Genético , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/genética

RESUMEN

OBJECTIVE: To document the prevalence, clinical features, haematology and outcome of acute splenic sequestration (ASS) in homozygous sickle cell disease (HbSS). STUDY DESIGN: A cohort study from birth. SETTING: The Medical Research Council Laboratories at the University of the West Indies, Kingston, Jamaica. PATIENTS: 311 cases of HbSS detected during the screening of 100 000 deliveries at the main government maternity hospital between 1973 and 1981. INTERVENTIONS: Long-term follow-up and free patient care focusing on ASS. MAIN OUTCOME MEASURE: Acute splenic sequestration. RESULTS: There were 183 episodes of ASS in 105 patients representing 35% of the cohort. The median age for first event was 1.07 years. During ASS, median values for haemoglobin fell by 32 g/dL, reticulocytes increased by 8% and total nucleated cells increased by 10.5%. ASS recurred in 47 (45%) patients. Conservative therapy in 133 episodes of 85 patients was associated with five deaths and splenectomy in 20 patients with 50 episodes had no deaths. Symptoms were generally non-specific but acute chest syndrome occurred in 17, and blood cultures revealed coagulase negative staphylococci in 5. The ASS case fatality rate was 3.6% and may be higher if autopsy evidence of ASS is included. There was no seasonal pattern but higher levels of fetal haemoglobin predicted patients less prone to ASS and its later occurrence. CONCLUSIONS: ASS remains an important cause of morbidity and mortality in HbSS in developing societies. ASS appears to be a non-specific response to many possible risk factors including coagulase negative staphylococci.

Asunto(s)

Anemia de Células Falciformes , Cohorte de Nacimiento , Embarazo , Humanos , Femenino , Lactante , Estudios de Cohortes , Jamaica/epidemiología , Coagulasa , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Hemoglobinas

Asunto(s)

Albuminuria , Anemia de Células Falciformes , Niño , Humanos , Adolescente , Albuminuria/epidemiología , Albuminuria/etiología , Brasil/epidemiología , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología

RESUMEN

BACKGROUND: Sickle cell disease (SCD) is the most important hemoglobinopathy in terms of frequency and social impact and can affect the stomatognathic system. AIM: To assess and compare the developmental defects of the enamel (DDE) in children and adolescents with and without SCD. DESIGN: This was a cross-sectional, analytical, and comparative study of 210 children and adolescents aged 5-18 years, who visited the Hematology and Hemotherapy Hospital of Pernambuco. RESULTS: Developmental defects of the enamel were observed in 55.2% of the SCD patients and 35.2% of the non-SCD patients (healthy group; p < .05). In the SCD group, DDE were more common in females than in males (69.1% vs. 40.0%; p < .05). The incidence of DDE in the permanent teeth was higher in the upper arch than in the lower arch (SCD group, 13.1% vs. 4.6%; healthy group, 8.9% vs. 3.6%; p < .05). CONCLUSION: Compared with the healthy group, the SCD patients were almost twice as likely to develop DDE, mostly affecting females and the permanent teeth. These findings suggest that individuals with SCD need early dental care to avoid future oral problems.

Asunto(s)

Anemia de Células Falciformes , Hipoplasia del Esmalte Dental , Niño , Masculino , Femenino , Humanos , Adolescente , Hipoplasia del Esmalte Dental/epidemiología , Estudios Transversales , Dentición Permanente , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Esmalte Dental , Prevalencia

RESUMEN

INTRODUÇÃO: A deficiência de Vitamina D (VD) é frequente na doença falciforme (DF) em decorrência do status inflamatório crônico, danos renais, endoteliais, hiperhemólise e melanodermia. Atualmente, a suplementação desse nutriente em falcêmicos tem se mostrado importante devido sua ação sistêmica e imunológica. OBJETIVOS: Analisar o impacto da VD em crianças com DF. MÉTODOS: Trata-se de uma revisão integrativa da literatura, onde foram analisados estudos, publicados originalmente em inglês e português, dos últimos dez anos, em humanos, tendo como referência as bases de dados MEDLINE, SciELO e LILACS. A busca foi efetuada mediante a consulta ao MeSH. Os descritores utilizados foram: "children"; "vitamin D"; "sickle cell anemia"; "supplementation". Foram identificados 32 artigos a partir da frase de pesquisa. Ao aplicar os critérios de inclusão, nove artigos foram eleitos para o estudo. RESULTADOS: A partir da análise dos artigos incluídos, 6 avaliaram a prevalência da deficiência de VD em crianças com anemia falciforme e os outros três artigos relataram sobre a suplementação de VD em crianças também com anemia falciforme. Todos os estudos mostraram que as crianças tratadas com reposição de VD tiveram uma diminuição de idas ao pronto-socorro e maior estabilidade hemodinâmica durante os tratamentos. CONCLUSÃO: Outros ensaios clínicos randomizados devem ser realizados para identificar o papel da DV na qualidade de vida e na redução da morbidade falciforme. A contribuição deste artigo é reconhecer que há evidências sobre a vitamina D fora dos ensaios clínicos randomizados.

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INTRODUCTION: Vitamin D (VD) deficiency is frequent in sickle cell disease (SCD) due to chronic inflammatory status, kidney and endothelial damage, hyperhemolysis and melanoderma. Currently, the supplementation of this nutrient in sickle cell patients is important due to its systemic and immunological action. Objectives: To analyze the impact of VD in children with SCD. METHODS: This is an integrative literature review, which analyzed studies, originally published in English and Portuguese, in the last ten years, in humans, using the MedLine, SciELO and LILACS databases as References. The search was performed by consulting the MeSH. The descriptors used were: "children"; "vitamin D"; "sickle cell anemia"; "supplementation". 32 articles were identified from the search phrase. When applying the inclusion criteria, nine articles were chosen for the study. RESULTS: Among the included articles, six evaluated the prevalence of VD deficiency in children with sickle cell anemia, and the other three reported on VD supplementation in children with sickle cell anemia. All studies showed that children treated with VD replacement had a decrease in emergency room visits and greater hemodynamic stability during treatments. CONCLUSION: Further randomized controlled trials should be carried out to identify the role of VD in quality of life and in the reduction of sickle cell morbidity. The contribution of this paper is to recognize that there is evidence about vitamin D outside of randomized controlled trials.

Asunto(s)

Humanos , Niño , Adolescente , Deficiencia de Vitamina D , Suplementos Dietéticos , Anemia de Células Falciformes/complicaciones