sickle cell anemia
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Whole transcriptome RNA-sequencing was performed to quantify RNA expression changes in whole blood samples collected from steady state sickle cell anemia (SCA) and control subjects. Pediatric SCA and control subjects were recruited from Atlanta (GA)—based hospital(s) systems and consented for RNA sequencing. RNA sequencing was performed on an Ion Torrent S5 sequencer, using the Ion Total RNA-seq v2 protocol. Data were aligned to the hg19 reference genome and analyzed in the Partek Genomics studio package (v7.0). 223 genes were differentially expressed between SCA and controls (± 1.5 fold change FDR p < 0.001) and 441 genes show differential transcript expression (± 1.5 fold FDR p < 0.001). Differentially expressed RNA are enriched for hemoglobin associated genes and ubiquitin-proteasome pathway genes. Further analysis shows higher gamma globin gene expression in SCA (33-fold HBG1 and 49-fold HBG2, both FDR p < 0.05), which did not correlate with hemoglobin F protein levels. eQTL analysis identified SNPs in novel non-coding RNA RYR2 gene as having a potential regulatory role in HBG1 and HBG2 expression levels. Gene expression correlation identified JHDM1D-AS1(KDM7A-DT), a non-coding RNA associated with angiogenesis, enhanced GATA1 and decreased JAK-STAT signaling to correlate with HBG1 and HBG2 mRNA levels. These data suggest novel regulatory mechanisms for fetal hemoglobin regulation, which may offer innovative therapeutic approaches for SCA.

Prior studies have described high venous signal qualitatively using arterial spin labelling (ASL) in patients with sickle cell anemia (SCA), consistent with arteriovenous shunting. We aimed to quantify the effect and explored cross-sectional associations with arterial oxygen content (CaO2), disease-modifying treatments, silent cerebral infarction (SCI), and cognitive performance. 94 patients with SCA and 42 controls underwent cognitive assessment and MRI with single- and multi- inflow time (TI) ASL sequences. Cerebral blood flow (CBF) and bolus arrival time (BAT) were examined across gray and white matter and high-signal regions of the sagittal sinus. Across gray and white matter, increases in CBF and reductions in BAT were observed in association with reduced CaO2 in patients, irrespective of sequence. Across high-signal sagittal sinus regions, CBF was also increased in association with reduced CaO2 using both sequences. However, BAT was increased rather than reduced in patients across these regions, with no association with CaO2. Using the multiTI sequence in patients, increases in CBF across white matter and high-signal sagittal sinus regions were associated with poorer cognitive performance. These novel findings highlight the utility of multiTI ASL in illuminating, and identifying objectively quantifiable and functionally significant markers of, regional hemodynamic stress in patients with SCA.

The other health impairment (OHI) disability category refers to a condition that causes limited strength, vitality, or alertness, including heightened alertness to environmental stimuli that results in limited alertness with respect to the educational environment due to a chronic or acute health problem and adversely affects a child's educational performance. This disability category, as explored in this chapter, may include one or a combined type of attention-deficit hyperactivity disorder, asthma, diabetes, epilepsy, a heart condition, kidney disease, sickle cell anemia, and Tourette's syndrome. As a result of the child's other health impairment, as described above, the child is prevented from receiving reasonable educational benefit from general education.

ickle cell anemia (SCA) is a disease that affects red blood cells (RBCs). Healthy RBCs are highly deformable objects that under flow can penetrate blood capillaries smaller than their typical...

ObjectiveThis study aimed to evaluate the predictive value of platelet volume indices (PVI), such as mean platelet volume (MPV), platelet distribution width (PDW), and plateletcrit (PCT), as prognostic indicators of testicular viability in torsion patients with steady-state sickle cell anemia (SCA) who underwent surgical exploration.MethodsForty-eight patients with SCA with testicular torsion and 46 male control subjects were enrolled in the study. All patients underwent scrotal color Doppler ultrasonography before surgery, and PVI (MPV, PDW, and PCT) values were measured in all participants. Symptom duration and testicular volume were also recorded.ResultsThe testicular salvage rate in patients with SCA was 73% after surgery. Analyses showed that MPV, PDW, and PCT values were significantly higher in torsed SCA as compared with controls (p<0.05). Orchiectomy in patients with SCA showed significantly higher MPV, PDW, and PCT values than the orchiopexy group (p<0.05). The MPV values of orchiectomy patients showed a higher significant cut-off of ≥11.5 fL, which is higher than in torsed patients without SCA, as an indicator of testis survival. PDW also demonstrated a higher significant cut-off of ≥12.7 fL for detorsion outcomes in patients with SCA. Symptom duration of less than 7 hours was also significantly correlated with orchiopexy (p≤0.001). Univariate analysis showed that higher MPV, increased PDW, and symptom duration were indicative of the outcome of testicular detorsion in SCA. Multivariable analysis showed that increased PDW and symptom duration are prognostic parameters for testicular viability in SCA.ConclusionIncreased PDW and symptom duration can be used as parameters for predicting testicular detorsion outcomes in patients with steady-state SCA.