After A Life Of Painful Sickle Cell Disease, A Patient Hopes Gene-Editing Can Help

She's the first patient with a genetic disorder to be treated with the powerful gene-editing technique CRISPR. The treatment has wrapped up and now she's waiting to see if it brings relief.(Image credit: Meredith Rizzo/NPR)
Source: NPR Health and Science - Category: Consumer Health News Authors: Source Type: news

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This study was aimed to identify the predictors of splenic sequestration crisis (SSC) among pediatric patients with sickle cell disease (SCD).This prognosis study was carried out in the pediatric immuno-hematology unit, over 20 years (1998 to 2017), enrolling patients with SCD. The cox model was used in multivariate analysis.Among 423 patients with SCD (240 S/S phenotype, 128 S/B0, 30 S/B+, 14 S/O arab and 11 S/C), 150(35.4%) had at least one episode of SSC. The average age of patients at the first episode was 48.3 months ± 32.4(2–168). Recurrence of SSC was observed in 117 patients (78%). Spleen size ≥...
Source: Blood Cells, Molecules, and Diseases - Category: Hematology Source Type: research
Publication date: Available online 18 October 2019Source: Life SciencesAuthor(s): Biljana Musicki, Uzoma A. Anele, Jeffrey D. Campbell, Serkan Karakus, Sruti Shiva, Fabio H. Silva, Arthur L. BurnettAbstractAimsNitric oxide (NO) has a critical, but not well understood, influence in the physiology of the lower urinary tract. We evaluated the effect of NO/phosphodiesterase (PDE)5 signaling in voiding dysfunction in the sickle cell disease (SCD) mouse, characterized by low NO bioavailability.Main methodsAdult SCD (Sickle) and wild-type (WT) male mice were treated daily with sodium nitrate (10 mM) or vehicle. After 18 days, b...
Source: Life Sciences - Category: Biology Source Type: research
Conclusion 99mTc-DMSA scintigraphy and SPECT/CT identify renal lesions possible related to renal infarcts or infections in most adult patients with SCD and no clinical evidence of renal insufficiency. Prominent renal columns and increased renal size tend to occur in most of these patients.
Source: Nuclear Medicine Communications - Category: Nuclear Medicine Tags: Original Articles Source Type: research
Abstract Dyslipidemia has been described in sickle cell anemia (SCA) but its association with increased disease severity is unknown. Here, we examined 55 children and adolescents with SCA as well as 41 healthy controls to test the association between the lipid profiles in peripheral blood and markers of hemolysis, inflammation, endothelial function, and SCA-related clinical outcomes. SCA patients exhibited lower levels of total cholesterol (P
Source: Braz J Med Biol Res - Category: Research Authors: Tags: Braz J Med Biol Res Source Type: research
Blood viscosity is an important determinant of local flow characteristics, which exhibits shear thinning behavior: it decreases exponentially with increasing shear rates. Both hematocrit and plasma viscosity influence blood viscosity. The shear thinning property of blood is mainly attributed to red blood cell (RBC) rheological properties. RBC aggregation occurs at low shear rates, and increases blood viscosity and depends on both cellular (RBC aggregability) and plasma factors. Blood flow in the microcirculation is highly dependent on the ability of RBC to deform, but RBC deformability also affects blood flow in the macroc...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
ConclusionsChildren with sickle cell disease showed delayed eruption of teeth, a tendency towards Class II molar relationship, with increased crowding in the lower anterior region, increased overjet and open bite when compared to the normal children. Children with sickle cell disease had severe and handicapping malocclusion as per DAI and DHC-IOTN indices and a tendency towards skeletal Class II with a vertical growth pattern.
Source: European Archives of Paediatric Dentistry - Category: Dentistry Source Type: research
(TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on UGT1A1 ...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
It is estimated that 50% to 90% of infants born with (SCA) in sub-Saharan Africa die before 5 years old. Northern Darfur State at western Sudan region has a multiethnic population with a high frequency of sick...
Source: BMC Research Notes - Category: Research Authors: Tags: Research note Source Type: research
This study aimed to evaluate sickle-cell disease (SCD) treatment patterns and economic burden among patients prescribed hydroxyurea (HU) in the US, through claims data.
Source: Health and Quality of Life Outcomes - Category: International Medicine & Public Health Authors: Tags: Research Source Type: research
Hydroxyurea (HU) is recommended as standard practice for youth with sickle cell disease (SCD). Yet, despite its efficacy, HU adherence in adolescents and young adults is often poor. Poor medication adherence i...
Source: BMC Pediatrics - Category: Pediatrics Authors: Tags: Study protocol Source Type: research
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