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2.
Sultan Qaboos Univ Med J ; 24(1): 58-62, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38434462

RESUMO

Objectives: Despite the numerous advances in management strategies, treating osteomyelitis in individuals with sickle cell disease (SCD) remains a significant challenge, leading to severe long-term consequences. This study aimed to assess the key factors potentially linked to a complex progression of osteomyelitis in patients diagnosed with SCD. Methods: A cohort of 34 patients was identified and their progress was monitored over a span of 12 months during a 10-year period (2010-2020). The variables under investigation encompassed demographic and clinical traits, laboratory analyses and imaging data, as well as the treatment strategies employed. Results: The risk prediction model pinpointed 5 factors (severity of SCD, involvement of lower limbs, presence of bacteraemia, magnetic resonance image [MRI] findings and utilisation of surgical debridement) that exhibited an area under the curve (AUC) exceeding 0.7. Causative organisms were identified in 9 out of the total 34 patients (26.47%). A total of 17 patients displayed a severe course of SCD (AUC = 7.88), with MRI being highlighted as a valuable contributing factor (AUC = 7.88). Furthermore, 13 patients (38.2%) underwent surgical debridement, a procedure that yielded a statistically significant P value of 0.012 and an AUC of 0.714. Conclusion: Osteomyelitis within the context of severe SCD, particularly when accompanied by lower extremity infection, bacteraemia, positive MRI findings and the need for surgical debridement, emerges as a cluster of risk factors predisposing individuals to osteomyelitis relapse and a more complex disease course.


Assuntos
Anemia Falciforme , Bacteriemia , Osteomielite , Humanos , Anemia Falciforme/complicações , Área Sob a Curva , Extremidade Inferior
4.
J Pediatr Health Care ; 38(2): 275-278, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38429041

RESUMO

Approximately 100,000 people in the United States are affected by Sickle Cell Disease (SCD). Acute pain and chronic pain are common and are experienced by everyone with SCD. Children and adolescents who had pain from SCD reported daily pain, decreased function, missed school/workdays, and limited participation in recreational and social activities. This case report aims to highlight the lack of diversity, equity, and inclusion of pain control through the lens of a patient with SCD to improve clinical practice.


Assuntos
Anemia Falciforme , Dor Crônica , Adolescente , Criança , Humanos , Manejo da Dor , Dor Crônica/etiologia , Anemia Falciforme/complicações , Instituições Acadêmicas , Comportamento Social
5.
JCI Insight ; 9(5)2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38456510

RESUMO

Thrombosis and inflammation are intimately linked and synergistically contribute to the pathogenesis of numerous thromboinflammatory diseases, including sickle cell disease (SCD). While platelets are central to thrombogenesis and inflammation, the molecular mechanisms of crosstalk between the 2 remain elusive. High-mobility group box 1 (HMGB1) regulates inflammation and stimulates platelet activation through Toll-like receptor 4. However, it remains unclear whether HMGB1 modulates other thrombotic agonists to regulate platelet activation. Herein, using human platelets, we demonstrate that HMGB1 significantly enhanced ADP-mediated platelet activation. Furthermore, inhibition of the purinergic receptor P2Y12 attenuated HMGB1-dependent platelet activation. Mechanistically, we show that HMGB1 stimulated ADP secretion, while concomitantly increasing P2Y12 levels at the platelet membrane. We show that in SCD patients, increased plasma HMGB1 levels were associated with heightened platelet activation and surface P2Y12 expression. Treatment of healthy platelets with plasma from SCD patients enhanced platelet activation and surface P2Y12, and increased sensitivity to ADP-mediated activation, and these effects were linked to plasma HMGB1. We conclude that HMGB1-mediated platelet activation involves ADP-dependent P2Y12 signaling, and HMGB1 primes platelets for ADP signaling. This complementary agonism between ADP and HMGB1 furthers the understanding of thromboinflammatory signaling in conditions such as SCD, and provides insight for therapeutic P2Y12 inhibition.


Assuntos
Anemia Falciforme , Proteína HMGB1 , Trombose , Humanos , Plaquetas/metabolismo , Proteína HMGB1/metabolismo , Inflamação/metabolismo , Ativação Plaquetária , Trombose/metabolismo
6.
Sci Rep ; 14(1): 5978, 2024 03 12.
Artigo em Inglês | MEDLINE | ID: mdl-38472301

RESUMO

Sickle cell anemia (SCA) is a globally prevalent inherited condition, with acute chest syndrome (ACS) being one of its most severe complications. ACS frequently leads to hospitalization, requires intensive care unit (ICU) admission, and can even result in death. This study aimed to discern the early indicators of impending ACS in children with SCA who were initially hospitalized due to painful vaso-occlusive crises (VOC). This was a retrospective, case‒control investigation of 120 patients aged 1-14 years seen at the King Saud Medical City in Riyadh, Saudi Arabia from January 2021 to December 2022. Patients were classified into cases and controls: those who developed and did not develop ACS during hospital stay, respectively. Demographic factors, laboratory results, vital and clinical signs, and treatment protocols were compared between these groups. The following were significant predictors of impending ACS: previous diagnosis of asthma, history of ACS, recent upper respiratory tract symptoms prior to admission, and need for a blood transfusion within the first 24 h of admission due to a drop in hemoglobin levels. Further regression analysis indicated that elevated steady-state mean corpuscular volume, leukocyte count, total bilirubin, and an increased absolute neutrophil count level 24 h after admission also foreshadowed impending ACS among patients admitted for VOC. The location of pain was also significant; the incidence of ACS was higher in patients with back pain, but lower in those with pain confined to the limbs. The ACS group had a longer average duration of hospital stay compared to those with VOC alone, (7.6 vs. 5.8 days). Among patients initially admitted for VOC, 15.7% were diagnosed with ACS. Most ACS cases were managed with transfusions and antibiotics, and nearly one-third of patients needed admission to an ICU or a high-dependency area.


Assuntos
Síndrome Torácica Aguda , Anemia Falciforme , Compostos Orgânicos Voláteis , Criança , Humanos , Síndrome Torácica Aguda/etiologia , Estudos Retrospectivos , Dor/tratamento farmacológico , Fatores de Risco
7.
Int J Mol Sci ; 25(5)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38474150

RESUMO

Hemoglobinopathies are monogenic disorders affecting hemoglobin synthesis. Thalassemia and sickle cell disease (SCD) are considered the two major hemoglobinopathies. Thalassemia is a genetic disorder and one of the major hemoglobinopathies determined by an impairment of globin chain production, which causes an alteration of erythropoiesis, an improvement in hemolysis, and an alteration of iron homoeostasis. In SCD, the mutations are on the ß-globin chain of hemoglobin which results in a substitution of glutamic acid by valine with consequent formation of Hemoglobin S (HbS). Several factors are involved in bone metabolism alteration in patients with hemoglobinopathies, among them hormonal deficiency, bone marrow hyperplasia, iron overload, inflammation, and increased bone turnover. Bone metabolism is the result of balance maintenance between bone deposition and bone resorption, by osteoblasts (OBs) and osteoclasts (OCs). An impairment of this balance is responsible for the onset of bone diseases, such as osteoporosis (OP). Therefore, here we will discuss the alteration of bone metabolism in patients with hemoglobinopathies and the possible therapeutic strategies to contain and/or counteract bone health impairment in these patients, taking into consideration not only the pharmacological treatments already used in the clinical armamentarium, but also the new possible therapeutic strategies.


Assuntos
Anemia Falciforme , Hemoglobinopatias , Talassemia , Talassemia beta , Humanos , Densidade Óssea , Hemoglobinopatias/genética , Anemia Falciforme/genética , Hemoglobina Falciforme , Talassemia beta/genética
8.
Med Sci Monit ; 30: e944204, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38425279

RESUMO

In 2020, Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry for their research on the endonuclease, clustered regularly interspaced short palindromic repeats (CRISPR) and the CRISPR-associated protein 9 (CRISPR-Cas9) method for DNA editing. On 16 November 2023, the UK Medicines and Healthcare Products Regulatory Agency (MHRA) was the first to approve the CRISPR-Cas9 gene editing therapy, Casgevy (exagamglogene autotemcel), for the treatment of patients with transfusion-dependent b-thalassemia and the treatment of sickle cell disease in patients aged ≥12 years with recurrent vaso-occlusive crises. On 8 December 2023, the US Food and Drug Administration (FDA) approved both Casgevy and Lyfgenia (lovotibeglogene autotemcel) for patients with sickle cell disease. On 15 December 2023, the European Medicines Agency (EMA) approved Casgevy for sickle cell disease and transfusion-dependent ß-thalassemia. This Editorial aims to present an update on the landmark first regulatory approvals of CRISPR-Cas9 for patients with sickle cell disease and transfusion-dependent b-thalassemia and the potential challenges for therapeutic gene (DNA) editing.


Assuntos
Anemia Falciforme , Talassemia beta , Estados Unidos , Humanos , Edição de Genes/métodos , Sistemas CRISPR-Cas/genética , Talassemia beta/genética , Talassemia beta/terapia , Anemia Falciforme/genética , Anemia Falciforme/terapia , DNA
9.
Afr J Prim Health Care Fam Med ; 16(1): e1-e8, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38426772

RESUMO

BACKGROUND:  In Kinshasa, Democratic Republic of Congo, there is a low evocation of the diagnosis of sickle cell disease (SCD) by first-level healthcare providers (HCPs), most likely because of poor knowledge of the disease. AIM:  To assess the levels of knowledge and practices of SCD and to identify determinants of the practices among primary HCPs. SETTING:  Healthcare facilities in Selembao health zone in Kinshasa, Democratic Republic of the Congo. METHODS:  A cross-sectional study of HCPs randomly selected through a two-stage sampling design. Data were collected using a pre-tested interviewer-administered questionnaire. Univariate and bivariate analysis were done to describe the levels of knowledge and practices of SCD. Factors associated with better practices on SCD were determined using multiple linear regression. The threshold for statistical significance was p Ë‚ 0.05. RESULTS:  A total of 318 HCPs, which included 80 physicians and 238 nurses, participated in the study. The participants showed different scores on the components of the knowledge. All the participants showed poor practices on SCD. Multiple linear regression retained overall knowledge of SCD as a significant predictor of better practice for physicians. Knowledge of SCD and duration of work experience were significant predictors of better practices among nurses. CONCLUSION:  The practices of healthcare providers on SCD were far from optimal. These practices were significantly associated with knowledge and experience of healthcare providers.Contribution: This study highlighted the need for continuing professional education to enhance the management of SCD in the setting.


Assuntos
Anemia Falciforme , Médicos , Humanos , República Democrática do Congo , Estudos Transversais , Pessoal de Saúde , Anemia Falciforme/terapia
11.
BMC Health Serv Res ; 24(1): 291, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38448911

RESUMO

BACKGROUND: Adults with sickle cell disease (SCD) suffer early mortality and high morbidity. Many are not affiliated with SCD centers, defined as no ambulatory visit with a SCD specialist in 2 years. Negative social determinants of health (SDOH) can impair access to care. HYPOTHESIS: Negative SDOH are more likely to be experienced by unaffiliated adults than adults who regularly receive expert SCD care. METHODS: Cross-sectional analysis of the SCD Implementation Consortium (SCDIC) Registry, a convenience sample at 8 academic SCD centers in 2017-2019. A Distressed Communities Index (DCI) score was assigned to each registry member's zip code. Insurance status and other barriers to care were self-reported. Most patients were enrolled in the clinic or hospital setting. RESULTS: The SCDIC Registry enrolled 288 Unaffiliated and 2110 Affiliated SCD patients, ages 15-45y. The highest DCI quintile accounted for 39% of both Unaffiliated and Affiliated patients. Lack of health insurance was reported by 19% of Unaffiliated versus 7% of Affiliated patients. The most frequently selected barriers to care for both groups were "previous bad experience with the healthcare system" (40%) and "Worry about Cost" (17%). SCD co-morbidities had no straightforward trend of association with Unaffiliated status. The 8 sites' results varied. CONCLUSION: The DCI economic measure of SDOH was not associated with Unaffiliated status of patients recruited in the health care delivery setting. SCDIC Registrants reside in more distressed communities than other Americans. Other SDOH themes of affordability and negative experiences might contribute to Unaffiliated status. Recruiting Unaffiliated SCD patients to care might benefit from systems adopting value-based patient-centered solutions.


Assuntos
Anemia Falciforme , Determinantes Sociais da Saúde , Adulto , Humanos , Estudos Transversais , Emoções , Anemia Falciforme/epidemiologia , Anemia Falciforme/terapia , Sistema de Registros
12.
Sci Rep ; 14(1): 6344, 2024 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-38491086

RESUMO

Exposure to both oxidative and shear stress, a condition that the red blood cell (RBC) continuously experiences in the circulation in vivo can be mimicked in a Couette type viscometer and monitored by ektacytometry. RBCs maintain their deformation and orientation under shear stress and oxidative stress until a threshold is reached at which these conditions appear to overwhelm the elaborate and complex pathways that maintain a proper redox environment in the cell. Oxidative stress under shear alters the ability of the cell to deform, changes cell morphology, its orientation in the shear stress field, and appears to alter intracellular and membrane characteristics. The application of the RoxyScan technology allows the comparison of oxidant effects and the role of antioxidant systems. This provides the opportunity to study the ability of RBC to deal with oxidative stress in various conditions, including RBC disorders such as sickle cell disease (SCD).


Assuntos
Anemia Falciforme , Deformação Eritrocítica , Humanos , Eritrócitos/metabolismo , Estresse Oxidativo , Oxirredução
14.
Orphanet J Rare Dis ; 19(1): 124, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38500184

RESUMO

BACKGROUND: In many countries, nitrous oxide is used in a gas mixture (EMONO) for short-term analgesia. Cases of addiction, with significant misuse, have been reported in hospitalized patients. Patients suffering from sickle cell disease (SCD) could represent a high-risk population for substance use disorder (SUD) due to their significant pain crisis and repeated use of EMONO. The objective of the PHEDRE study was to assess the prevalence of SUD for EMONO in French SCD patients. RESULTS: A total of 993 patients were included. Among 339 EMONO consumers, only 38 (11%) had a SUD, with very few criteria, corresponding mainly to a mild SUD due to a use higher than expected (in quantity or duration) and relational tensions with the care teams. Almost all patients (99.7%) were looking for an analgesic effect, but 68% of patients were also looking for other effects. The independent risks factors associated with at least one SUD criterion were: the feeling of effects different from the expected therapeutic effects of EMONO, at least one hospitalization for vaso occlusive crisis in the past 12 months and the presence of a SUD for at least one other analgesic drug. CONCLUSIONS: The use of EMONO was not problematic for the majority of patients. Manifestations of SUD that led to tensions with healthcare teams should alert and lead to an evaluation, to distinguish a true addiction from a pseudoaddiction which may be linked to an insufficient analgesic treatment related to an underestimation of pain in SCD patients. TRIAL REGISTRATION: Clinical Trials, NCT02580565. Registered 16 October 2015, https://clinicaltrials.gov/.


Assuntos
Anemia Falciforme , Transtornos Relacionados ao Uso de Substâncias , Humanos , Óxido Nitroso/uso terapêutico , Óxido Nitroso/efeitos adversos , Oxigênio , Analgésicos/uso terapêutico , Dor/tratamento farmacológico , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/complicações , Transtornos Relacionados ao Uso de Substâncias/tratamento farmacológico , Anemia Falciforme/tratamento farmacológico
15.
Rev Infirm ; 73(299): 38-40, 2024 Mar.
Artigo em Francês | MEDLINE | ID: mdl-38485402

RESUMO

With the rising incidence of sickle cell disease, this chronic pathology is becoming the most common genetic disease in France. Advances in care have led to a marked improvement in life expectancy. Caregivers in pediatric facilities are therefore increasingly confronted with the question of the transition to adulthood of the adolescents they have been following since birth. As nurses working in Robert-Debré's transfusion and curative medicine unit, in 2022, adolescents accounted for 57 % of sickle cell patients enrolled in our transfusion exchange program. Adolescence is a period of major change, and the repercussions of the disease are all the more pronounced. This raises the issue of transferring them to the adult sector.


Assuntos
Anemia Falciforme , Adulto , Humanos , Criança , Adolescente , Anemia Falciforme/terapia , Anemia Falciforme/epidemiologia , Transfusão de Sangue , França , Cuidadores
16.
Am J Hematol ; 99(4): 767-769, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38433376

RESUMO

Leg ulcers in individuals living with Sickle Cell Disease are evidence of systemic dysfunction. Data from a U.S. study link leg ulcers to wider pulse pressure and markers of chronic hemolysis, inflammation, renal, and liver dysfunction.


Assuntos
Anemia Falciforme , Úlcera da Perna , Humanos , Anemia Falciforme/complicações , Hemólise , Inflamação , Úlcera da Perna/etiologia , Pressão Sanguínea
18.
Curr Opin Ophthalmol ; 35(3): 185-191, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38465910

RESUMO

PURPOSE OF REVIEW: To review the literature evaluating systemic medications for treatment of sickle cell disease (SCD) and their applications for sickle cell retinopathy. RECENT FINDINGS: Prior studies have demonstrated the efficacy of traditional systemic therapies in reducing the risk of development of sickle cell retinopathy. Since 2017, several new and promising disease-modifying therapies for sickle cell disease have been approved for clinical use, including the first genetic therapies such as exagamglogene autotemcel (exa-cel) and lovotibeglogene autotemcel (lovo-cel). These treatments have shown promising results for systemic management but are not widely utilized due to limited access and high cost. The efficacy of these therapies for the prevention of sickle cell retinopathy remains unknown and opens the door to new avenues for research. Furthermore, the role of systemic therapy for the management of hemoglobin SC (HbSC) disease, which has milder systemic effects but higher likelihood of causing retinopathy, remains poorly understood. SUMMARY: Hydroxyurea has been a mainstay of systemic management of SCD with prior work suggesting its ability to reduce the likelihood of developing retinopathy. There are several new and potentially curative systemic therapies for SCD, though their role in retinopathy prevention and management has not been studied extensively. Future studies are necessary to understand the implications of these emerging therapies for sickle cell retinopathy.


Assuntos
Anemia Falciforme , Doença da Hemoglobina SC , Doenças Retinianas , Humanos , Anemia Falciforme/complicações , Anemia Falciforme/tratamento farmacológico , Anemia Falciforme/genética , Doença da Hemoglobina SC/complicações , Doença da Hemoglobina SC/tratamento farmacológico , Doenças Retinianas/tratamento farmacológico , Doenças Retinianas/prevenção & controle , Hidroxiureia/uso terapêutico
20.
BMC Public Health ; 24(1): 850, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38504224

RESUMO

BACKGROUND: Sickle Cell Disorder is Africa's most prevalent genetic disease. Yet, it remains a neglected condition, with high mortality under-five, and a lack of population-based studies in the region. This is the first of its kind in São Tomé e Príncipe, aiming to estimate the prevalence of sickle cell trait and other haemoglobin variants in women of reproductive age and its associated factors. METHODS: We conducted a cluster survey in 35 neighbourhoods. Haemoglobin was assessed through point-of-care capillary electrophoresis or high-performance liquid chromatography, and sociodemographic data through questionnaires. The weighted prevalence of sickle cell trait (HbAS) and HbC carriers was estimated with a 95% confidence interval (95% CI). We calculated weighted prevalence ratios (95% CI) through robust Poisson regression for its association with age and individual and collective genetic heritage. FINDINGS: The prevalence of sickle cell trait in women of reproductive age in São Tomé e Príncipe (n = 376) was 13.45% (95% CI: 9.05-19.00). The prevalence of HbC carriers was 8.00% (95% CI: 4.71-12.00). Older age and speaking Forro or Angolar were positively associated with having sickle cell trait. INTERPRETATION: The prevalence of sickle cell trait in São Tomé e Príncipe ranks high in the West African region. The country should follow international guidelines, implementing newborn screening and comprehensive healthcare management.


Assuntos
Anemia Falciforme , Traço Falciforme , Recém-Nascido , Humanos , Feminino , Traço Falciforme/epidemiologia , Traço Falciforme/genética , Prevalência , Estudos Transversais , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Hemoglobinas
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