Journal of sickle cell disease and hemoglobinopathies最新文献

{"title":"Altered Resting-State Functional Connectivity in Sickle Cell Disease: Insights Into Pain Sensitivity and Cerebral Hemodynamics","authors":"Daniel Sop, Yue May Zhang, Wally R. Smith","doi":"10.1093/jscdis/yoaf013.018","DOIUrl":"https://doi.org/10.1093/jscdis/yoaf013.018","url":null,"abstract":"Abstract Background We previously reported both heightened pain sensitivity and impaired fluid cognition in Sickle Cell Disease (SCD) patients (1). The two may be linked, potentially via altered brain connectivity. Understanding specific disruptions in resting-state functional connectivity (rsFC) between key brain regions of interest (ROI) in SCD could clarify this mechanistic link, namely between underlying pain sensitivity or expressions of chronic pain, and impaired cognition. Our objective was to investigate and compare ROI-to-ROI connectivity patterns between SCD patients and healthy controls (HC), focusing on ROIs implicated in sensory processing, cognitive control, and pain modulation. Methods Resting-state fMRI data from SCD patients (n = 6) and matched HCs (n = 2) were analyzed using ROI-based connectivity. Significant connections were identified using thresholder mass-based statistics, False Discovery Rate (FDR) corrections, and uncorrected significance (p < 0.05). Key ROIs included the supramarginal gyrus, inferior temporal gyrus, and cerebellar vermis subregions, which are hypothesized to play roles in both pain modulation and cognitive processing. Results Significant connectivity alterations were observed between the above ROIs critical for both sensory processing and cognitive processing, specifically executive function. Notable connections include the left supramarginal gyrus (T (6) = 2.59, p = 0.041) and Vermis subregions (T (6) = 9.57, p = 0.000075). SCD patients exhibited disrupted connectivity involving the default mode network and language-related areas, indicating cross-network interference possibly contributing to our previously reported heightened pain sensitivity and impaired fluid cognition. Conclusions The findings reveal altered connectivity patterns in SCD patients, highlighting specific circuits potentially involved in pain perception and cognitive dysfunction. These results align with our hypothesis that cerebral hemodynamic disruptions contribute to maladaptive neural processing in SCD. Further exploration with larger cohorts could validate these pathways as potential targets for therapeutic intervention. --- 1- Sop D, Steinberg JL, Jordan J, Crouch T, Zhang YM, Smith W. Association of Cerebral Hemodynamics and Anemia on Processing Speed in Adults with Sickle Cell Disease. J Neurol Exp Neural Sci. 2023;5(1):150. doi: 10.29011/2577-1442.100050. Epub 2023 Jul 24. PMID: 37645351; PMCID: PMC10464389.","PeriodicalId":92552,"journal":{"name":"Journal of sickle cell disease and hemoglobinopathies","volume":"2 Supplement_1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://academic.oup.com/jscd/article-pdf/2/Supplement_1/yoaf013.018/63437982/yoaf013.018.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147914655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlates of nocturnal hypoxemia in children with sickle cell disease","authors":"Seema Rani, Brendan Mahon, Olufunke Afolabi‐Brown, Bruce Bernstein, Nataly Apollonsky, R Eric Miller","doi":"10.1093/jscdis/yoae013","DOIUrl":"https://doi.org/10.1093/jscdis/yoae013","url":null,"abstract":"Abstract Objectives Nocturnal hypoxemia (NH) and obstructive sleep apnea (OSA), more prevalent in children with sickle cell disease, are associated with sickle cell disease-related comorbidities. This study aimed to identify clinical and laboratory factors associated with NH in children with sickle cell disease. Methods This was an institutional review board-approved exploratory retrospective chart review of 81 children with SCD followed by the Sickle Cell Center at St. Christopher’s Hospital for Children, Philadelphia, PA, referred for an overnight polysomnogram 2008-2014. Demographic, hematologic, respiratory, SCD-related comorbidities and therapies, surgical history, and emergent healthcare utilization data were collected. Data were analyzed by IBM SPSS. Bivariate analyses identified clinical variables that were significantly, individually associated with NH. Clinical variables significantly associated with NH in bivariate analyses were entered in logistic regression models with OSA status to identify factors independently associated with NH, adjusting for OSA status. Results Fifteen children (19%) had NH, 18 (22%) had OSA, and 8 (10%) had both. Children with OSA more likely had NH. Lower hemoglobin level, higher reticulocyte count, lower diastolic blood pressure, and lower oxygen saturation were independently, significantly associated with NH, irrespective of the patient’s OSA status. Conclusions NH was present even in the absence of OSA. Identifying factors associated with NH is valuable to guide management of this cohort due to the known complications associated with NH in SCD.","PeriodicalId":92552,"journal":{"name":"Journal of sickle cell disease and hemoglobinopathies","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://academic.oup.com/jscd/advance-article-pdf/doi/10.1093/jscdis/yoae013/61237192/yoae013.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147920936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding the Self-Management Practices of Young Adults with Sickle Cell Disease.","authors":"Nadine Matthie, Coretta Jenerette","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Because self-management is central to sickle cell disease (SCD) management, this descriptive study of 18 young adults with SCD, ages 19-39, was conducted to understand their pain experience and to identify the specific home activities they use for pain prevention and management prior to care-seeking. Participants completed two baseline surveys and one semi-structured, individual interview. Content analysis of the interview transcripts yielded two themes: difficulty in describing pain and living with pain. Participants used pharmacological and non-pharmacological strategies to alleviate pain and avoid disease complications but report barriers to using these strategies. Healthcare providers should use study findings to provide appropriate care to and improve pain outcomes for young adults with SCD. In addition, interventions aimed at addressing barriers and optimizing self-management are needed.</p>","PeriodicalId":92552,"journal":{"name":"Journal of sickle cell disease and hemoglobinopathies","volume":"2017 ","pages":"76-87"},"PeriodicalIF":0.0,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269114/pdf/nihms907238.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36744262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}