Browsing by Subject "SCD"

Now showing 1 - 3 of 3
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    Decision Making in Fertility Preservation Prior to Pursuing Curative Treatments for Sickle Cell Disease
    (2023-03-24) Collins, Angela J.; Noel, Josey; Abraham, Olivia; Hornberger, Sydney; Rahim, Mahvish Q.; Jacob, Seethal A.; Saraf, Amanda J.
    AUTHORS: Angela Collins, MPH(1), Josey Noel(1), Olivia Abraham(1), Sydney Hornberger(1), Mahvish Rahim MD, MBA, MSCR(1,2), Seethal Jacob MD, MS, FAAP(1,2), Amanda Saraf DO(1,2). AFFILIATIONS: (1) Indiana University School of Medicine, Indianapolis, IN. (2) Department of Pediatrics, Riley Hospital for Children, Indianapolis, IN. ABSTRACT: RELEVANT BACKGROUND: Sickle cell disease (SCD) is one of the most commonly inherited hemoglobinopathies, often well controlled on Hydroxyurea (HU). Curative therapy options exist with stem cell transplant (SCT) and gene therapy. While both the underlying condition and routine therapy such as HU is thought to impact fertility, the chemotherapy used for both SCT and gene therapy can result in permanent sterility. Infertility can have a negative impact on long-term measures of quality of life. As a result, fertility preservation ought to be offered to all patients with SCD planning for curative treatment. Ovarian tissue cryopreservation and mature oocyte or embryo cryopreservation are fertility preservation options available for pre and postpubescent females respectively. Testicular tissue cryopreservation (TTC) is an experimental option for prepubescent males and sperm cryopreservation is utilized for postpubescent males. CASE DESCRIPTION: We present three cases of patients with SCD who pursued fertility preservation prior to receiving curative therapy with a myeloablative preparative regimen. Patient 1 is a prepubescent 8-year-old male with SCD controlled with HU who opted for TTC as fertility preservation prior to receiving a matched sibling SCT. Patient 2 is a 13-year-old male with SCD controlled with HU who opted for TTC following a failed sperm banking attempt prior to haploidentical SCT. Patient 3 is an 18-year-old female with SCD controlled with HU and Voxelator who opted to have eggs harvested prior to gene therapy. CLINICAL SIGNIFICANCE: As highlighted by these cases, continued research on safe and effective fertility preservation as well as counseling about both the impact of the underlying disease on fertility and treatment-related fertility risks is imperative to improve long-term quality of life measures. CONCLUSION: These patients demonstrate a need for further emphasis on fertility risk counseling in this patient population and ensuring that discussions regarding preservation options is standard of practice at every institution.
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    Memory concerns in the early Alzheimer’s disease prodrome: Regional association with tau deposition
    (Elsevier, 2018-03-24) Swinford, Cecily G.; Risacher, Shannon L.; Charil, Arnaud; Schwarz, Adam J.; Saykin, Andrew J.; Alzheimer’s Disease Neuroimaging Initiative; Radiology and Imaging Sciences, School of Medicine
    Introduction: Relationship between self- and informant memory concerns and tau aggregation was assessed in adults at risk for Alzheimer's disease (AD). Methods: Regional mean standardized uptake value ratios were extracted from [18F]flortaucipir positron emission tomography (PET) scans of 82 at-risk adults in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. Associations between self- and informant ECog memory scores and tau aggregation were analyzed on both regional and voxelwise bases. Analyses were completed both on the whole sample and restricted to amyloid-positive individuals only. Results: Memory concerns were associated with tau aggregation. Self-perception was more associated with frontal tau. In contrast, informant scores were more associated with parietal tau. This source-by-region interaction was more prominent in amyloid-positive participants and observed in both regional and voxelwise analyses. Discussion: Quantitative assessment of perceived memory functioning may be useful for screening older adults at risk for Alzheimer's disease. Individuals and their informants may provide complementary information relating to the anatomical distribution of tau.
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    White matter alterations in early-stage Alzheimer's disease: A tract-specific study
    (Elsevier, 2019-08-21) Wen, Qiuting; Mustafi, Sourajit M.; Li, Junjie; Risacher, Shannon L.; Tallman, Eileen; Brown, Steven A.; West, John D.; Harezlak, Jaroslaw; Farlow, Martin R.; Unverzagt, Frederick W.; Gao, Sujuan; Apostolova, Liana G.; Saykin, Andrew J.; Wu, Yu-Chien; Radiology and Imaging Sciences, School of Medicine
    Introduction: Diffusion magnetic resonance imaging may allow for microscopic characterization of white matter degeneration in early stages of Alzheimer's disease. Methods: Multishell Diffusion magnetic resonance imaging data were acquired from 100 participants (40 cognitively normal, 38 with subjective cognitive decline, and 22 with mild cognitive impairment [MCI]). White matter microscopic degeneration in 27 major tracts of interest was assessed using diffusion tensor imaging (DTI), neurite orientation dispersion and density imaging, and q-space imaging. Results: Lower DTI fractional anisotropy and higher radial diffusivity were observed in the cingulum, thalamic radiation, and forceps major of participants with MCI. These tracts of interest also had the highest predictive power to discriminate groups. Diffusion metrics were associated with cognitive performance, particularly Rey Auditory Verbal Learning Test immediate recall, with the highest association observed in participants with MCI. Discussion: While DTI was the most sensitive, neurite orientation dispersion and density imaging and q-space imaging complementarily characterized reduced axonal density accompanied with dispersed and less restricted white matter microstructures.