Neurological management of ischemic stroke in sickle cell disease- a case report with an updated review of the literature.

Background: In children and adults with sickle-cell disease (SCD), acute ischemic stroke (AIS) associated with a vaso-occlusive crisis is a leading cause of physical and cognitive disability and death. However, neurological guidelines for acute management of AIS fail to directly address this issue. We here report a case of a man with severe cerebrovascular complications and illustrate the current evidence on the management of SCD-related AIS.

Cerebral Hemodynamic Responses to Disease-Modifying and Curative Sickle Cell Disease Therapies.

Background And Objectives: Sickle cell disease (SCD) is a hemoglobinopathy resulting in hemoglobin-S production, hemolytic anemia, and elevated stroke risk. Treatments include oral hydroxyurea, blood transfusions, and hematopoietic stem cell transplantation (HSCT). Our objective was to evaluate the neurologic relevance of these therapies by characterizing how treatment-induced changes in hemoglobin (Hb) affect brain health biomarkers.

Living with sickle cell in Uganda: A comprehensive perspective on challenges, coping strategies, and health interventions.

Sickle cell anemia (SCA) is a hereditary blood disorder with profound implications for affected individuals, particularly in resource-limited settings such as Uganda. This review explores the multifaceted aspects of SCA in Uganda, focusing on epidemiology, challenges faced by individuals, coping strategies, healthcare disparities, and community support. The study incorporates a thorough examination of the genetic landscape, prevalence, and the impact of SCA on the quality of life in Uganda.

Scientometrics Analysis of Global Researches on Anemia.

Anemia is a condition in which the number of red blood cells or the hemoglobin concentration within them is lower than normal. This study aims to show the intellectual structure of knowledge regarding anemia and gives a comprehensive and up-to-date image of research in this area. This is a descriptive-analytical study with a scientometric approach.

A Cross-Sectional Study on the Quality of Life of Adults With Sickle Cell Disease Followed-Up in Outpatient Clinics: A Single-Center Experience.

Background Sickle cell disease (SCD) is a genetic blood disorder characterized by abnormal hemoglobin S, leading to red blood cell deformities, chronic hemolysis, and frequent vaso-occlusive crises (VOC). While advancements in medical care have improved survival rates, adults with SCD continue to face substantial challenges in their quality of life (QoL) due to chronic pain, recurrent VOCs, and various complications. This study aimed to evaluate the health-related quality of life (HRQoL) in adult patients aged 14 years and above with SCD and identify key factors influencing patient outcomes using the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me).

Patient-oriented unsupervised learning to uncover the patterns of multimorbidity associated with stroke using primary care electronic health records.

Background: We aimed to identify and characterise the longitudinal patterns of multimorbidity associated with stroke.

Methods: We used an unsupervised patient-oriented clustering approach to analyse primary care electronic health records (EHR) of 30 common long-term conditions (LTC) in patients with stroke aged over 18, registered in 41 general practices in south London between 2005 and 2021.

Results: Of 849,968 registered patients, 9,847 (1.

Respectful care for postpartum women with sickle cell disease: a netnographic study.

Objectives: to analyze principles of respectful maternity care in narratives of postpartum women with sickle cell disease, relating them to Sustainable Development Goals.

Methods: netnographic study, with two videos published in 2020. Deductive iconographic and thematic analysis by Respectful Maternity Care Charter, organized in MAXQDA.

Sociodemographic and Clinical Factors Predictive of Poor Health-Related Quality of Life of Children with Sickle Cell Anemia in The Gambia.

Children with sickle cell anemia (SCA) experience recurrent vaso-occlusive crises and complications, significantly impacting their health-related quality of life (HRQoL). This study determined HRQoL in 130 children aged 5 -15 years with SCA in The Gambia, compared to 130 age- and sex-matched hemoglobin AA (HbAA) children. HRQoL was measured using the Pediatric Quality of Life Inventory (PedsQL), with scores below 69.

Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.

Background: Consanguineous marriage is a major contributing factor for many genetic diseases and a burden to the healthcare system and national economy due to costly long-term care. Earlier studies highlighted the significantly limited awareness of the higher prevalence of genetic disease due to consanguinity even among the educated Arabs. In Saudi Arabia, more than 50% of marriages are between first cousins.

Hydroxyurea blunts mitochondrial energy metabolism and osteoblast and osteoclast differentiation exacerbating trabecular bone loss in sickle cell mice.

Sickle cell disease (SCD) is a severe hematological disorder characterized by erythrocyte sickling that causes significant morbidity and mortality. Skeletal complications of SCD include a high incidence of bone loss, especially in vertebrae, leading to fragility fractures that contribute to disease burden. Whether hydroxyurea (HU), a front-line therapy for SCD ameliorates bone disease has not been established.

Impact of Variants, Epidemiological Trends, and Comorbidities on Hospitalization Rates of Unvaccinated Children in Brazil: A Retrospective Study (2020-2022).

This retrospective study aimed to investigate the impact of the emergence of new variants and the epidemiological scenario on hospitalization rates of unvaccinated children (0-12 years) in Brazil. The study included 1614 children admitted to a hospital between March 2020 and December 2022 but 101 (6.3%) of them testing positive for COVID-19 via RT-PCR.

Association of Copper, Zinc, Copper-to-zinc ratio and Disease Severity Scores in Sickle Cell Anemia: An Observational Analytical Study.

Objective: The purpose of the study was to assess the amount of serum copper, zinc, and copper-to-zinc ratio in sickle cell anemia patients and healthy subjects and to relate the parameters with an objective disease severity score. Further, to see the correlation between copper and zinc levels with fetal hemoglobin level in sickle cell anemia (SCA) subjects in both stable state and during the crisis.

Materials And Methods: Copper and zinc levels in serum of 100 SCA and 100 healthy subjects were measured using commercially available kits.

Cognitive considerations for adults with sickle cell disease completing the brief pain inventory.

Introduction: Accurate assessment of pain severity is important for caring for patients with sickle cell disease (SCD). The Brief Pain Inventory was developed to address limitations of previous pain-rating metrics and is available in a short form (BPI-SF). However, the BPI-SF is a self-report scale dependent on patient comprehension and interpretation of items.

CRISPR CLIP: comprehensive reviews on interventional studies using precision recombinant technologies: clinical landmarks, implications, and prospects.

To consolidate clinical trials that utilized the CRISPR technology to synthesise cures for various genetic diseases as a means to provide a window into the progress made so far while paving the way forward for future research and practices. Systematic review (PROSPERO CRD42023479511). Trials from seven databases' (ClinicalTrials.

Relationships Between Markers of Iron Status and Hematological Parameters in Patients With Sickle Cell Disease.

Based on the relationship between the intracellular concentration of sickle hemoglobin S (HbS) and the delay that occurs prior to the onset of sickling following deoxygenation, targeting the intracellular HbS concentration is a recognized therapeutic approach for sickle cell disease (SCD). We and others have shown that restricting iron by dietary or pharmacologic means improves hematologic parameters, inflammation, and organ damage in mouse models of SCD. Clinical evidence corroborating these findings is confined to case reports and small case series studies, none of which account for treatment or -thalassemia.

The Voxelotor Effect: Decreased Affinity for New Drugs for Sickle Cell Disease?

Voxelotor (OXBRYTA) was abruptly withdrawn from the global market in September 2024. Clinicians and patients were not prepared for this, and the sudden discontinuation has caused much consternation, uncertainty, and loss of trust.

IFN-I promotes T cell-independent immunity and RBC autoantibodies via modulation of B-1 cell subsets in murine SCD.

The pathophysiology of sickle cell disease (SCD) is characterized by hemolytic anemia and vaso-occlusion, although its impact on the adaptive immune responses remains incompletely understood. To comprehensibly profile the humoral immune responses, we immunized SCD mice with T cell-independent (TI) and T cell-dependent (TD) antigens. Our study showed that SCD mice have significantly enhanced type 2 TI (TI-2) immune responses in a manner dependent on the level of type I IFN (IFN-I), while maintaining similar or decreased TD immune responses depending on the route of antigen administration.

The intersection of sickle cell disease, stigma, and pain in Africa.

Sickle cell disease (SCD) is a significant public health concern in sub-Saharan Africa, where it is the most prevalent genetic disorder, presenting numerous health care and sociocultural challenges. A case study of a young girl from Ghana's Ashanti region illustrates the stigma surrounding SCD, driven by traditional beliefs and misconceptions that perceive SCD as a spiritual affliction. This stigma results in social ostracism and discrimination, impacting affected individuals and their families.

Newborn screening initiatives for sickle cell disease in Africa.

Sickle cell disease (SCD) is a genetic blood disorder in high prevalence in sub-Saharan Africa (SSA) that leads to high morbidity and early mortality. Newborn screening (NBS) with evidence-based interventions saves lives of individuals with SCD. SSA accounts for 75% of the global prevalence of SCD, but it has not been able to implement universal NBS for SCD.

Novel clinical care models for patients with sickle cell disease.

This educational program outlines the importance of evolving clinical care models in response to increased life expectancy and variability in individual patient experiences, particularly in the context of sickle cell disease (SCD). It emphasizes the need for personalized and adaptive care models, in which the patient should play a central role, and the need for collaborative networks of physicians and caregivers, taking into account the multisystemic nature of the disease. The proposal also discusses the role of personalized medicine and technological advances, highlighting the need for a shared medical record; the balance between rare center expertise and widespread dissemination of knowledge; and the challenges in high- and low-income countries.

End-of-life care for people with sickle cell disease: barriers to and facilitators of high-quality care.

End-of-life (EOL) care is a critical part of sickle cell disease (SCD) management. However, barriers to high-quality EOL care remain, including (1) disease-related barriers (prior opioid exposure, risk of vaso-occlusive crises, chronic conditions with conflicting needs, and limitations of receiving disease-directed therapy on hospice); (2) communication-related barriers (challenges of identifying and responding to religious and spiritual concerns, limited health literacy, and previous health care system experience); (3) systemic issues (social determinants of health, structural racism, and mistrust of the medical system). However, palliative care and interdisciplinary collaboration can overcome many of these barriers.

Practical guide for disease-modifying medication management of children and adolescents with sickle cell disease.

Hydroxyurea has historically been the sole disease-modifying medication (DMM) for sickle cell disease (SCD). However, 3 newer DMMs, L-glutamine, voxelotor, and crizanlizumab, were approved for children and adolescents with SCD since 2017. Despite their emergence, treatment barriers, including access, affordability, and nonadherence, limit the optimization of DMMs in the clinical setting.