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Revista Paulista de Pediatria : Orgao... 2024To estimate trends in mortality rate and average age of death, and identify sociodemographic factors associated with early death in patients with sickle cell disease...
OBJECTIVE
To estimate trends in mortality rate and average age of death, and identify sociodemographic factors associated with early death in patients with sickle cell disease (SCD).
METHODS
An ecological and cross-sectional study was conducted using data from the Mortality Information System. All deaths of patients residing in the state of São Paulo from 1996 to 2015 with at least one International Disease Code for SCD in any field of the death certificate were included. Simple linear regression was used to estimate trends. The Log-rank test and multiple Cox regression were used to identify factors associated with early death.
RESULTS
The age-standardized mortality rate per million inhabitants increased by 0.080 per year (R2=0.761; p<0.001). When the events were stratified by age at death, the increase was 0.108 per year for those occurring at age 20 years or older, (R2=0.789; p<0.001) and 0.023 per year for those occurring before age 20 years old (R2=0.188; p=0.056). The average age at death increased by 0.617 years (7.4 months) per year (R2=0.835; p<0.001). Sociodemographic factors associated with early death identified were male gender (hazard ratio - HR=1.30), white race (HR=1.16), death occurring in the hospital (HR=1.29), and living in the Greater São Paulo (HR=1.13).
CONCLUSIONS
The mortality rate and the average age of death in patients with SCD have increased over the last two decades. Sociodemographic factors such as gender, race, place of occurrence, and residence were found to be associated with early death.
Topics: Humans; Anemia, Sickle Cell; Brazil; Male; Female; Cross-Sectional Studies; Adolescent; Young Adult; Child; Infant; Child, Preschool; Adult; Sociodemographic Factors; Cause of Death; Mortality; Age Factors; Infant, Newborn; Middle Aged
PubMed: 38808868
DOI: 10.1590/1984-0462/2024/42/2023113 -
Revista Paulista de Pediatria : Orgao... 2024To describe two cases of patients who had thrombotic microangiopathy (TMA) associated with sickle cell disease (SCD).
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.
Topics: Humans; Anemia, Sickle Cell; Thrombotic Microangiopathies; Male; Female; Child; Adolescent
PubMed: 38808867
DOI: 10.1590/1984-0462/2024/42/2023108 -
Pulmonary Circulation Apr 2024Pulmonary hypertension in sickle cell disease (SCD) is a complex phenomenon resulting from multiple overlapping etiologies, including pulmonary vasoconstriction in the...
Pulmonary hypertension in sickle cell disease (SCD) is a complex phenomenon resulting from multiple overlapping etiologies, including pulmonary vasoconstriction in the setting of chronic hemolytic anemia, diastolic dysfunction, and chronic thromboembolic disease. The presence of pulmonary hypertension of any cause in SCD confers a significant increase in mortality risk. Evidence to guide the management of patients with sickle cell disease and chronic thromboembolic pulmonary hypertension (CTEPH) is scant and largely the realm of case reports and small case series. Centered on a discussion of a complex young patient with hemoglobin hemoglobin SC who ultimately underwent treatment with pulmonary thromboendarterectomy, we review the available literature to guide management and discuss and overview of treatment of CTEPH in SCD, considering the unique considerations and challenges facing patients suffering from this multisystem disease.
PubMed: 38803827
DOI: 10.1002/pul2.12362 -
BMC Health Services Research May 2024In 2016, Uganda added Hydroxyurea (HU) to the list of essential drugs to treat sickle cell disease SCD. However, Hydroxyurea utilization has been low for several...
Understanding patient-related barriers to hydroxyurea use among adolescent and adult patients with sickle cell disease in Mulago and Kiruddu hospitals, Uganda, a qualitative study.
BACKGROUND
In 2016, Uganda added Hydroxyurea (HU) to the list of essential drugs to treat sickle cell disease SCD. However, Hydroxyurea utilization has been low for several countries in sub-Saharan Africa. This study examined patient-related barriers to hydroxyurea use among adolescent and adult patients with sickle cell disease in Mulago and Kiruddu hospitals, in Uganda.
METHODS
To understand the patient-related barriers to hydroxyurea use among adolescent and adult patients with sickle cell disease, we conducted a parallel convergent mixed methods study at outpatient departments of two national referral hospitals in Uganda from October 2022 to January 2023. The cross-sectional mixed-methods study employed both quantitative and qualitative methods. We collected survey data from a systematic sample of 259 participants and conducted individual interviews with a purposive sample of 40 participants (20 adolescents or their caregivers and 20 adult patients with SCD) and interviewed them individually on their knowledge, perceptions, barriers, and facilitators of HU utilization. Descriptive data were analyzed using Stata 16, whereas qualitative data were analyzed thematically using an inductive approach supported by NVivo 12 software. We triangulated data to determine the concordance of qualitative and quantitative data.
RESULTS
The study enrolled 40 participants for qualitative interviews and 259 patients for quantitative, with an average age of 16, over half being female, 46% having secondary education, and 96% unmarried. The prevalence of HU use was 78%. The study identified three themes as follows: Patient barriers at the individual including Inadequate knowledge about HU, Persistent pain, Poor adherence to HU, Poor communication with health care workers, and Psychosocial and emotional challenges. At the facility level, long queues and poor quality of care, drug-related side effects that affect HU, and drug stock-outs were reported. Myths, rumors, and misconceptions about HU, and gender-related barriers were reported to affect HU utilization at a community level. Facilitators for the use of HU and recommendations for improvement. Facilitators included perceived benefits, long duration on HU, information sharing by healthcare workers, availability of complementary drugs, confirmation of diagnosis, and availability of medication at public health facilities or private pharmacies. Patients suggested continuous adherence support, encouragement from healthcare workers, sensitization about benefits and risks, a peer-to-peer approach, and financial support for adolescents and women to start businesses to resolve financial problems.
CONCLUSION
Implementing the use of HU has been challenging in Uganda and needs improvement. Facilitators to hydroxyurea use have been highlighted, though Patient-identified barriers at individual, facility, and community levels that need to be resolved. The experiences and insights shared by our participants provide invaluable guidance for increasing the uptake of HU. Further studies are needed to establish validated instruments to assess patients' pain communication and adherence to the HU regimen.
Topics: Humans; Hydroxyurea; Uganda; Anemia, Sickle Cell; Female; Male; Adult; Adolescent; Qualitative Research; Cross-Sectional Studies; Antisickling Agents; Young Adult; Health Knowledge, Attitudes, Practice; Middle Aged
PubMed: 38802815
DOI: 10.1186/s12913-024-11125-6 -
Molecular Genetics and Metabolism... Jun 2024Our study evaluated the association of the polymorphism rs724016 in the gene, previously associated with height in other populations, with predictors of height,...
OBJECTIVES
Our study evaluated the association of the polymorphism rs724016 in the 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 ( < 0.001) and, in a additive genetic model, was negatively associated with HbF levels ( = 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 is associated with shorter height and lower HbF levels, an important modifier of SCA.
PubMed: 38800625
DOI: 10.1016/j.ymgmr.2024.101086 -
Cureus Apr 2024White-centered, flame-shaped retinal hemorrhages, also known as Roth spots, occur in several diseases, most often in subacute bacterial endocarditis. Other conditions...
White-centered, flame-shaped retinal hemorrhages, also known as Roth spots, occur in several diseases, most often in subacute bacterial endocarditis. Other conditions such as leukemia, hypertensive retinopathy, and pre-eclampsia are other causes. Here, we present the case of a 32-year-old female with sickle cell anemia (HbSS) who was treated at the hospital after experiencing a sickle cell crisis. Fundus examination was performed to rule out sickle cell retinopathies, suggesting the presence of Roth spots in the retina which are rarely seen in sickle cell disease.
PubMed: 38800292
DOI: 10.7759/cureus.59047 -
International Journal of Environmental... Apr 2024Sickle cell disease (SCD) is a group of chronic, genetic disorders of the red blood cells with significant gaps in access to evidence-based clinical care. Sickle...
Sickle cell disease (SCD) is a group of chronic, genetic disorders of the red blood cells with significant gaps in access to evidence-based clinical care. Sickle Treatment and Outcomes Research in the Midwest (STORM), a provider network, utilized Project ECHO (Extension for Community Health Outcomes), a telementoring model, to deliver evidence-based education about SCD management. The purpose of this mixed-methods study is to evaluate the utility of Project ECHO as an educational strategy for healthcare providers treating children and adults with SCD. Annual evaluations were administered to STORM TeleECHO participants from 2016 to 2021. Survey data showed a statistically significant change in self-reported provider confidence in the ability to provide care for adult patients with SCD; identify suitable candidates for disease-modifying therapies; and confidence to prescribe disease-modifying therapies. Participants who attended at least 10 sessions were invited to participate in a semi-structured interview. Qualitative data were analyzed using thematic analysis and several themes emerged about the benefits, including (1) increased confidence, (2) integrated best-practice care, (3) connection to provider network and access to experts, (4) high-quality educational presentations and (5) opportunities for collaboration and a sense of community. This suggests that Project ECHO is accessible and leads to increased confidence in providers caring for individuals with SCD. Overall, participant knowledge gains successfully demonstrated the utility of Project ECHO as an educational resource for providers.
Topics: Anemia, Sickle Cell; Humans; Adult; Health Personnel; Female; Male; Evidence-Based Practice; Telemedicine
PubMed: 38791745
DOI: 10.3390/ijerph21050530 -
International Journal of Molecular... May 2024Sickle cell nephropathy (SCN) is a common complication of sickle cell disease (SCD) that significantly contributes to morbidity and mortality. In addition to clinical... (Review)
Review
Sickle cell nephropathy (SCN) is a common complication of sickle cell disease (SCD) that significantly contributes to morbidity and mortality. In addition to clinical and life-style factors, genetic variants influence this risk. We performed a systematic review, searching five databases. Studies evaluating the effect of genetic modifiers on SCN were eligible. Twenty-eight studies (fair-to-good quality) were included: one genome-wide association study, twenty-six case-control studies, and one article combining both approaches. was significantly associated with albuminuria and hyperfiltration in children and with worse glomerular filtration in adults. On the other hand, alpha-thalassemia protected patients against albuminuria and hyperfiltration, while variants were protective against albuminuria alone. The long GT-tandem repeat polymorphism led to a lower glomerular filtration rate. No modifiers for the risk of hyposthenuria were identified. A genome-wide association approach identified three new loci for proteinuria (, , and ) and nine loci were linked with eGFR (, , , , , , , , and ). In conclusion, this systematic review supports the role of genetic modifiers in influencing the risk and progression of SCN. Incorporating and expanding this knowledge is crucial to improving the management and clinical outcomes of patients at risk.
Topics: Humans; Anemia, Sickle Cell; Genome-Wide Association Study; Genetic Predisposition to Disease; Kidney Diseases; Apolipoprotein L1; Disease Progression; Genes, Modifier; Glomerular Filtration Rate
PubMed: 38791464
DOI: 10.3390/ijms25105427 -
Cells May 2024Sickle cell disease (SCD) is the most common genetic blood disorder in the United States, with over 100,000 people suffering from this debilitating disease. SCD is... (Review)
Review
Sickle cell disease (SCD) is the most common genetic blood disorder in the United States, with over 100,000 people suffering from this debilitating disease. SCD is caused by abnormal hemoglobin (Hb) variants that interfere with normal red blood cell (RBC) function. Research on SCD has led to the development and approval of several new SCD therapies in recent years. The recent FDA-approved novel gene therapies are potentially curative, giving patients an additional option besides a hematopoietic bone marrow transplant. Despite the promise of existing therapies, questions remain regarding their long-term pharmacological effects on adults and children. These questions, along with the exorbitant cost of the new gene therapies, justify additional research into more effective therapeutic options. Continual research in this field focuses on not only developing cheaper, more effective cures/treatments but also investigating the physiological effects of the current therapies on SCD patients, particularly on the brain and kidneys. In this article, we undertake a comprehensive review of ongoing clinical trials with completion dates in 2024 or later. Our exploration provides insights into the landscape of current therapeutics and emerging novel therapies designed to combat and potentially eradicate SCD, including the latest FDA-approved gene therapies.
Topics: Humans; Anemia, Sickle Cell; Genetic Therapy; Clinical Trials as Topic
PubMed: 38786070
DOI: 10.3390/cells13100848 -
Ethiopian Journal of Health Sciences Sep 2023Sickle cell anaemia (SCA) imposes a substantial healthcare burden, affecting millions of people worldwide. Understanding the determinants influencing SCA severity is...
BACKGROUND
Sickle cell anaemia (SCA) imposes a substantial healthcare burden, affecting millions of people worldwide. Understanding the determinants influencing SCA severity is crucial for enhanced disease management and optimized patient outcomes. This study aimed to investigate the relationship between Neutrophil-Lymphocyte Ratio (NLR), Platelet-Neutrophil Ratio (PNR), Platelet-Lymphocyte Ratio (PLR), and SCA severity.
METHODS
A cohort of 45 children diagnosed with SCA and undergoing treatment at Chukwuemeka Odumegwu Ojukwu University Teaching Hospital, Awka, was included in this study. Demographic and clinical data, along with laboratory measurements of the aforementioned ratios, were collected. The severity of SCA was assessed using numerical scoring.
RESULTS
The analysis revealed that PNR and PLR emerged as significant predictors of SCA severity, irrespective of the level of adiposity. In contrast, NLR demonstrated no predictive value in relation to SCA severity.
CONCLUSION
The findings challenge the conventional notion that neutrophils alone play a central role in the pathogenesis of sickle cell crises. These results contribute to a deeper understanding of the disease and provide insights into possible alternative mechanisms underlying SCA severity. Further research is warranted to explore the intricate interplay between platelets, neutrophils, lymphocytes, and other biological factors within the context of SCA. Ultimately, this knowledge may pave the way for targeted interventions and improved management strategies for individuals living with SCA.
Topics: Humans; Anemia, Sickle Cell; Male; Female; Child; Neutrophils; Severity of Illness Index; Blood Platelets; Lymphocytes; Child, Preschool; Adolescent; Platelet Count; Lymphocyte Count; Cohort Studies
PubMed: 38784518
DOI: 10.4314/ejhs.v33i5.12