ライフサイエンスコーパス: sickle cell

1 n PIEZO1 agonist, to investigate its role in sickle cells.

2 guish the normal red blood cells (RBCs) from sickled cells.

3 re consistent with the presence of PIEZO1 in sickle cells, able to mediate Ca(2+) entry but that PKC

4 esting findings including association of the sickle cell allele of betaglobin among non-Hispanic blac

5 His mother has Sickle cell anaemia (Hb SS) and his father is a carrier

6 We identified 51 (1%) children with sickle cell anaemia (HbSS), four (<1%) heterozygous for

7 st syndrome (ACS) is a major complication of sickle cell anaemia (SCA) and a leading cause for hospit

8 Sickle cell anaemia (SCA) is associated with structural

9 (PS) exposure is increased in red cells from sickle cell anaemia (SCA) patients.

10 For children with sickle cell anaemia and high transcranial doppler (TCD)

11 The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sick

12 graphic abnormalities in adult patients with sickle cell anaemia in steady state attending the Haemat

13 Sickle cell anaemia is a monogenetic disorder with a hig

14 l quadrant ultrasonography of 50 consecutive sickle cell anaemia patients were compared with those of

15 biliary ultrasound findings in patients with sickle cell anaemia.

16 hepatobiliary abnormalities in patients with sickle cell anaemia.

17 hn Kendrew sought to understand mutations in sickle cell and other genetic diseases related to hemogl

18 subset of 2388 children and adolescents with sickle cell anemia (50%) was enrolled for 2 or more cons

19 Most participants had sickle cell anemia (homozygous hemoglobin S or hemoglobi

20 ariate analysis showed that in patients with sickle cell anemia (SCA) genotypes, older age (95% confi

21 a treatment is recommended for children with sickle cell anemia (SCA) living in high-resource malaria

22 e mainstay of stroke prevention in pediatric sickle cell anemia (SCA), but the physiology conferring

23 In children with sickle cell anemia (SCA), high transcranial Doppler (TCD

24 Sickle cell anemia (SCA)-related cardiomyopathy is chara

25 ory vaso-occlusive processes associated with sickle cell anemia (SCA).

26 T) prevents stroke in selected patients with sickle cell anemia (SCA).

27 ations are the leading cause of mortality in sickle cell anemia (SCA).

28 is associated with diastolic dysfunction in sickle cell anemia (SCA).

29 at high concentration in the circulation of sickle cell anemia (SS) patients.

30 e validated in a cohort of 283 patients with sickle cell anemia and known pediatric cerebrovascular o

31 uld be present in about 10% of children with sickle cell anemia and represent a genetic risk factor t

32 enrolled children 1 to 10 years of age with sickle cell anemia in four sub-Saharan countries.

33 Among children with sickle cell anemia in sub-Saharan Africa, hydroxyurea wi

34 , feasibility, and efficacy in children with sickle cell anemia in sub-Saharan Africa, with studies s

35 Sickle cell anemia is a unique disease dominated by hemo

36 tment was feasible and safe in children with sickle cell anemia living in sub-Saharan Africa.

37 lls and enabled A*T-to-G*C base editing of a sickle cell anemia mutation using a previously inaccessi

38 h stiffening of red blood cells (RBCs; e.g., sickle cell anemia or malaria), the mechanical propertie

39 Hemolysis is a fundamental feature of sickle cell anemia that contributes to its pathophysiolo

40 en and adolescents 2 to 16 years of age with sickle cell anemia were identified by the presence of 3

41 e can identify children and adolescents with sickle cell anemia who are at the highest risk of stroke

42 or more Medicaid claims with a diagnosis of sickle cell anemia within a calendar year (2005-2010).

43 Hydroxyurea is an effective treatment for sickle cell anemia, but few studies have been conducted

44 which occurs in diseases such as malaria and sickle cell anemia, or following blood transfusions.

45 iven disease processes in conditions such as sickle cell anemia, sepsis, transfusion reactions, medic

46 red fifty-nine adults with HCV infection and sickle cell anemia, thalassemia, or hemophilia A/B or vo

47 lotor (500-1000 mg per day) in patients with sickle cell anemia.

48 vestigations into cerebrovascular disease in sickle cell anemia.

49 and mechanical properties of sickle RBCs in sickle cell anemia.

50 ractions among children and adolescents with sickle cell anemia.

51 mutant form h-HbS, which is responsible for sickle cell anemia.

52 lar transfusions to prevent complications of sickle cell anemia.

53 stating complication affecting children with sickle cell anemia.

54 demic sub-Saharan Africa, where the greatest sickle-cell burden exists, remain unknown.

55 ](i) is maintained at very low levels but in sickle cells, Ca(2+) permeability is increased, especial

56 readmission rate after hospitalization for a sickle cell crisis (SCC) is extremely high.

57 on, with symptoms defining the acute painful sickle-cell crisis.

58 rvation, 95% CI 40-86) than in those without sickle cell disease (2.4 per 1000 person-years of observ

59 sickle cell disease than in children without sickle cell disease (210 per 1000 person-years of observ

60 Mortality was higher in children with sickle cell disease (58 per 1000 person-years of observa

61 ger than 50 years, had genetically confirmed sickle cell disease (Hb SS) or sickle beta thalassemia (

62 est expression in children with both SMA and sickle cell disease (HbSS), corresponding with elevated

63 ew byproducts, the primary genetic causes of sickle cell disease (requiring a transversion in HBB) an

64 e (ACS) is a common, serious complication of sickle cell disease (SCD) and a leading cause of hospita

65 ameliorate the severe beta-globin disorders sickle cell disease (SCD) and beta-thalassemia by induct

66 fully applied to hemoglobinopathies, such as sickle cell disease (SCD) and beta-thalassemia.

67 ta2) is an important therapeutic approach in sickle cell disease (SCD) and beta-thalassemia.

68 hemopexin deficiency, and kidney function in sickle cell disease (SCD) and report that (1) acute elev

69 sfusion-dependent beta-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases

70 beta-Thalassemia and sickle cell disease (SCD) are the most prevalent monogen

71 Sickle cell disease (SCD) complications are associated w

72 n two patients admitted to the hospital with sickle cell disease (SCD) crisis.

73 issue of Blood, Matte et al demonstrate that sickle cell disease (SCD) disrupts inflammation-resoluti

74 Persons with sickle cell disease (SCD) exhibit subjective hypersensit

75 Children with sickle cell disease (SCD) experience cognitive deficits

76 globin expression and the pathophysiology of sickle cell disease (SCD) in a NRF2 knockout (SCD/NRF2(-

77 and sustainability of newborn screening for sickle cell disease (SCD) in sub-Saharan Africa and othe

78 Sickle cell disease (SCD) is a genetic disorder caused b

79 Sickle cell disease (SCD) is a genetic hemoglobinopathy

80 Sickle cell disease (SCD) is a hematological disorder le

81 Sickle cell disease (SCD) is a highly complex genetic bl

82 Sickle cell disease (SCD) is a major global health conce

83 Sickle cell disease (SCD) is a monogenic disorder that a

84 Sickle cell disease (SCD) is a worldwide hematological d

85 Sickle cell disease (SCD) is associated with chronic act

86 Pulmonary hypertension (PH) in adults with sickle cell disease (SCD) is associated with early morta

87 Sickle cell disease (SCD) is caused by a variant hemoglo

88 Sickle cell disease (SCD) is one of the most common here

89 Sickle cell disease (SCD) leads to significant morbidity

90 nd colleagues demonstrate that patients with sickle cell disease (SCD) on hydroxyurea have lower cere

91 on of sickle hemoglobin (HbS) play a role in sickle cell disease (SCD) pathogenesis.

92 gh hemoglobin-hyperviscous" subphenotypes of sickle cell disease (SCD) patients is based on North Ame

93 ating MPs on endothelial cells (ECs) from 60 sickle cell disease (SCD) patients.

94 Sickle cell disease (SCD) results from a hemoglobin (Hb)

95 Sickle cell disease (SCD) results in cardiopulmonary dys

96 Patients with sickle cell disease (SCD) suffer from intense pain that

97 openia are common clinical manifestations of sickle cell disease (SCD) with unclear mechanisms.

98 Pain is a characteristic feature of sickle cell disease (SCD), 1 of the most common inherite

99 Sickle cell disease (SCD), a congenital hemolytic anemia

100 Sickle cell disease (SCD), a genetic disorder of hemoglo

101 However, its function in sickle cell disease (SCD), a life-threatening hemolytic

102 In sickle cell disease (SCD), abnormal adhesion of RBCs to

103 pportive therapy to prevent complications of sickle cell disease (SCD), access to care is not univers

104 he proximate event in the pathophysiology of sickle cell disease (SCD), are needed to address the sev

105 nificant cause of morbidity and mortality in sickle cell disease (SCD), but preventive, diagnostic, a

106 ingosine 1-phosphate (S1P) is detrimental in Sickle Cell Disease (SCD), but the mechanistic basis rem

107 Altered mitochondrial function occurs in sickle cell disease (SCD), due in part to low nitric oxi

108 Certain populations, including people with sickle cell disease (SCD), exhibit a greater prevalence

109 hich leads to the systemic manifestations of sickle cell disease (SCD), including vaso-occlusion, ana

110 n these genes cause cystic fibrosis (CF) and sickle cell disease (SCD), respectively.

111 Sickle cell disease (SCD)-associated nephropathy is a ma

112 worsens symptoms and crises in patients with sickle cell disease (SCD).

113 evaluated for hemoglobin disorders including sickle cell disease (SCD).

114 lowering may also have beneficial effects in sickle cell disease (SCD).

115 sis (VOC) is the most common complication of sickle cell disease (SCD).

116 reportedly occurs in 10% of adolescents with sickle cell disease (SCD).

117 dhesion, correlate with clinical severity in sickle cell disease (SCD).

118 ons are of vital importance in patients with sickle cell disease (SCD).

119 Cs) are in clinical trials for patients with sickle cell disease (SCD).

120 ies have hampered their development to treat sickle cell disease (SCD).

121 nts in the microvasculature of patients with sickle cell disease (SCD).

122 injury (AKI) is a major clinical concern in sickle cell disease (SCD).

123 ctivity correlates with heme levels in mouse sickle cell disease (SCD).

124 ry cause of morbidity and hospitalization in sickle cell disease (SCD); however, only 4 therapies (hy

125 mergent complication affecting patients with sickle cell disease (SCD); however, the molecular mechan

126 adolescents with sickle cell disease aged 12-19 years, primary data on ad

127 g inflammation, cancer, neuroprotection, and sickle cell disease among many others.

128 olled 17 consecutive patients: 12 (71%) with sickle cell disease and 5 (29%) with beta-thalassaemia m

129 The beta-haemoglobinopathies, such as sickle cell disease and beta-thalassaemia, are caused by

130 in chain imbalance in erythroid progeny from sickle cell disease and beta-thalassemia patient-derived

131 oglobin (HbF) can ameliorate the severity of sickle cell disease and beta-thalassemia(1).

132 tical goal in the treatment of patients with sickle cell disease and beta-thalassemia.

133 Participants were tested for sickle cell disease and followed up for survival status

134 is simple risk score may guide patients with sickle cell disease and hematologists who are considerin

135 imilarities in the experience of living with sickle cell disease and living with other chronic illnes

136 ase that manifests clinical complications in sickle cell disease and other chronic hereditary or acqu

137 a from patients with known oxidative stress (sickle cell disease and sepsis) and from a patient with

138 Of 996 patients with sickle cell disease and who underwent transplantation in

139 Patients with sickle cell disease are at high risk for chronic hepatit

140 Sickle cell trait and sickle cell disease are thought to be independent risk f

141 ere, using vaso-occlusive episodes (VOEs) of sickle cell disease as a vascular disease model, we show

142 presented for immunisation were screened for sickle cell disease at five primary health-care centres

143 ian period 2: a missing beneficial factor in sickle cell disease by lowering pulmonary inflammation,

144 Temporal macular involvement in sickle cell disease can now easily be detected by optica

145 faster in patients with sickle cell trait or sickle cell disease compared with reference patients; it

146 We systematically screened for sickle cell disease consecutive newborn babies and infan

147 In Africa, 50-90% of children born with sickle cell disease die before they reach their fifth bi

148 Living with a long-term condition such as sickle cell disease during adolescence constitutes a sig

149 The study population was all patients with sickle cell disease enrolled before March 31, 2015, in t

150 Three patients with sickle cell disease exhibiting preserved visual acuity b

151 Children with sickle cell disease experience organ damage, impaired qu

152 patient transition from paediatric to adult sickle cell disease health care is unlikely to address t

153 Sickle cell disease impacts on multiple facets of an ado

154 rations made in a single referral center for sickle cell disease in 2016.

155 We enrolled patients with sickle cell disease in a single-center, open-label pilot

156 Increased longevity of patients with sickle cell disease in high-income, middle-income, and l

157 udy bodes well for the care of patients with sickle cell disease in resource-poor countries.

158 d mortality were high in young children with sickle cell disease in this Kenyan cohort, both were red

159 Sickle cell disease is a common and life-threatening hae

160 Sickle cell disease is a life-threatening inherited cond

161 The pathology of sickle cell disease is caused by polymerization of the a

162 Sickle cell disease is characterized by hemolytic anemia

163 Sickle cell disease is highly prevalent in sub-Saharan A

164 Sickle cell disease is one of the most common, life-thre

165 own for more than 60 years that the cause of sickle cell disease is polymerization of a hemoglobin mu

166 Sickle Cell Disease is the commonest monogenic haemoglob

167 Sickle cell disease is the most common severe monogenic

168 Although the root cause of sickle cell disease is the polymerization of hemoglobin

169 Temporal macular atrophy in sickle cell disease may have direct consequences on visu

170 one marrow transplantation for patients with sickle cell disease on a clinical trial that had a compa

171 children, pregnant women, and patients with sickle cell disease or AIDS.

172 troversies include the role of haemolysis in sickle cell disease pathophysiology, optimal management

173 Our study shows that outcome is impaired in sickle cell disease patients receiving extracorporeal li

174 from healthy donors and thrombocytopenic and sickle cell disease patients.

175 Over the 8-year period, 22 patients with sickle cell disease required extracorporeal life support

176 Sickle cell disease results from a homozygous missense m

177 ed to test the feasibility of implementing a sickle cell disease screening programme using innovative

178 to hospital was also higher in children with sickle cell disease than in children without sickle cell

179 clined significantly faster in patients with sickle cell disease than in patients with sickle cell tr

180 For adolescents with sickle cell disease to be cared for and supported approp

181 ring adolescents' experiences of living with sickle cell disease to make recommendations for practice

182 rities to consider for any young person with sickle cell disease transitioning from paediatric to adu

183 disease and sepsis) and from a patient with sickle cell disease treated with the antioxidant N-acety

184 n for admission to hospital among those with sickle cell disease was severe anaemia (incidence 48 per

185 Children with sickle cell disease were offered confirmatory testing an

186 Clinical manifestations of sickle cell disease were reduced or absent during the fo

187 so shows that neutrophils from patients with sickle cell disease were unresponsive to one of two majo

188 t-free survival is improved in patients with sickle cell disease who receive an allogenic transplanta

189 assess the visual function of patients with sickle cell disease with no visual symptoms despite temp

190 res et Drepanocytose, ie, Heart Arteries and Sickle Cell Disease) study prospectively recruited pedia

191 rom 60 participants (20 controls and 40 with sickle cell disease).

192 Of the 55 babies and infants with confirmed sickle cell disease, 41 (75%) were enrolled into a progr

193 In sickle cell disease, aberrant blood flow due to oxygen-d

194 51 patients with sickle cell trait, 230 with sickle cell disease, and 8729 reference patients, with a

195 the antiphospholipid syndrome, preeclampsia, sickle cell disease, and biomaterial-induced thromboinfl

196 as hereditary hemochromatosis, thalassemia, sickle cell disease, and myelodysplasia that can lead to

197 in animal models of diseases such as cancer, sickle cell disease, and renal fibrosis.

198 ul for severe acute chest syndrome in adults sickle cell disease, because of the frequent hemodynamic

199 f 41), and 89.4% (42 of 47) of patients with sickle cell disease, beta-thalassemia, and hemophilia A/

200 ation occurs in hemolytic disorders, such as sickle cell disease, but the pathological relevance and

201 In patients with sickle cell disease, crizanlizumab therapy resulted in a

202 QCT molecular counting to develop sgNIPTs of sickle cell disease, cystic fibrosis, spinal muscular at

203 free iron during hemolytic diseases such as sickle cell disease, dengue fever, malaria, and sepsis.

204 In patients with sickle cell disease, donor and recipient red cell phenot

205 y be warranted when evaluating patients with sickle cell disease, even if asymptomatic with 20/20 vis

206 nts had beta-thalassaemia major, 27 (7%) had sickle cell disease, five (1%) had thalassodrepanocytosi

207 ess is thought to contribute to pathology in sickle cell disease, in this issue of Blood, Morris et a

208 from microcirculatory impairment, including sickle cell disease, ischemic heart disease, and heart f

209 Among children with sickle cell disease, mortality was lower in those who en

210 e KGBCS, and 128 (0.8%) of these infants had sickle cell disease, of whom 70 (54.7%) enrolled at the

211 y disorders of erythrocyte hydration include sickle cell disease, thalassemia, hemoglobin CC, and her

212 ities in RBCs, including altered hematocrit, sickle cell disease, thalassemia, hemolytic anemias, and

213 literature about how adolescent's experience sickle cell disease, this body of research has not been

214 controlled trial involving participants with sickle cell disease, voxelotor significantly increased h

215 d between birth and 5 years with and without sickle cell disease, who were resident within the Kilifi

216 c nephropathy in European Americans and with sickle cell disease-associated nephropathy.

217 polymerization drives the pathophysiology of sickle cell disease.

218 and prevention of long-term complications of sickle cell disease.

219 vent liver injury in hemolytic diseases like sickle cell disease.

220 transplantation outcomes of in patients with sickle cell disease.

221 ntage, as in the case of cystic fibrosis and sickle cell disease.

222 and offer prospects for curative therapy of sickle cell disease.

223 lly once daily) with placebo in persons with sickle cell disease.

224 ng the subcellular and cellular phenomena in sickle cell disease.

225 n a variety of diseases including cancer and sickle cell disease.

226 molytic diseases and conditions, sepsis, and sickle cell disease.

227 P-selectin, were evaluated in patients with sickle cell disease.

228 pt clinical trial in 12 subjects with stable sickle cell disease.

229 or a severe cerebral vasculopathy related to sickle cell disease.

230 on and acute lung injury in murine models of sickle cell disease.

231 increase muscle blood flow in patients with sickle cell disease.

232 nd doubled muscle perfusion in patients with sickle cell disease.

233 All 3 patients included had homozygous sickle cell disease.

234 cations among HPC transplant recipients with sickle cell disease.

235 ogenitor cell (HPC) transplantation can cure sickle cell disease.

236 bin (HbS) is the primary pathogenic event of sickle cell disease.

237 ar atrophy, cystic fibrosis, haemophilia and sickle cell disease.

238 ne in black patients, with faster decline in sickle cell disease.

239 eneic hematopoietic cell transplantation for sickle cell disease.

240 n offers a favorable risk-benefit profile in sickle cell disease.

241 liable and accurate in newborn screening for sickle cell disease.

242 us thromboembolism observed in patients with sickle cell disease.

243 he pathophysiology and many subphenotypes of sickle cell disease; (3) clinical implications of person

244 s increased about asthma as a comorbidity in sickle-cell disease and its effects on morbidity, substa

245 globin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic disea

246 The findings were compared by sickle cell genotype and retinopathy stage and correlate

247 ssociation was observed between Sl genotype, sickle cell genotype, alpha+thalassaemia genotype, gende

248 Sickle cell genotypes included 27 patients with hemoglob

249 n case series of adult patients with various sickle cell genotypes.

250 lar flow are common in patients with various sickle cell genotypes.

251 angiography (OCT-A) in patients with various sickle cell genotypes.

252 l homozygote (SS) genotype, 113 (28%) showed sickle cell hemoglobin C (SC) genotype, and 77 (19%) sho

253 reacting with hydrogen peroxide (H(2)O(2)), sickle-cell hemoglobin (HbS, betaE6V) remains longer in

254 nrollment with electrophoretically confirmed sickle cell hemoglobinopathies followed by the Universit

255 Peripapillary RNFL thinning in patients with sickle cell hemoglobinopathies occurred faster in patien

256 Children with sickle cell hemoglobinopathy (SCH) can demonstrate proli

257 enefit the development of therapies to treat sickle cell hepatic crisis.

258 e (SCD); however, the molecular mechanism of sickle cell hepatobiliary injury remains poorly understo

259 6 years; range 0-18 years), 208 (52%) showed sickle cell homozygote (SS) genotype, 113 (28%) showed s

260 ed to investigate the dynamics of individual sickle cells in a capillary-like microenvironment in ord

261 technique, we obtained similar percentage of sickle cells in blood samples as analyzed by conventiona

262 at, relative to wild-type (WT) mice, Berkley sickle cell mice (BERK-SS) residing at sea level, mild (

263 n of gene-modified murine HSCs from Berkeley sickle cell mice led to a substantial improvement of sic

264 provide unique insights into how individual sickle cells move through capillaries under transient hy

265 emonstrate FnCas9-mediated correction of the sickle cell mutation in patient-derived induced pluripot

266 w robust bi-allelic correction of homozygous sickle cell mutations in a patient-derived induced PSC (

267 tan operation), for a kidney transplant 2.8 (sickle cell nephropathy as primary cause of end-stage re

268 ell injury in the medulla that contribute to sickle cell nephropathy.

269 ldren in the dose-escalation group had fewer sickle cell-related adverse events (incidence rate ratio

270 alaria), and benefits (laboratory variables, sickle cell-related events, transfusions, and survival).

271 py resulted in a significantly lower rate of sickle cell-related pain crises than placebo and was ass

272 The primary end point was the annual rate of sickle cell-related pain crises with high-dose crizanliz

273 ed in the pathogenesis of vaso-occlusion and sickle cell-related pain crises.

274 P = .02) were associated with proliferative sickle cell retinopathy (PSR).

275 e at onset, and risk factors associated with sickle cell retinopathy (SCR) to inform development of s

276 The prevalence of both the sickle cell trait (10/218 [4.6%]) and homozygous alpha+t

277 ygous for HbS and HbC (HbSC), 740 (21%) with sickle cell trait (HbAS), 34 (1%) heterozygous for HbA a

278 's health in a case-control study, using the sickle cell trait (HbAS), a condition associated with a

279 OL1 alleles that were directly genotyped and sickle cell trait (hemoglobin subunit beta gene [HBB] va

280 sk genotypes, hemoglobin variants, including sickle cell trait (SCT) and hemoglobin C trait, have a r

281 s relationship may differ between those with sickle cell trait (SCT) and those without it.

282 The contribution of sickle cell trait (SCT) to racial disparities in cardiop

283 rature regarding management of patients with sickle cell trait (SCT) undergoing cardiac surgery, sinc

284 Sickle cell trait and disease are associated with faster

285 of the study was to calculate prevalence of sickle cell trait and disease.

286 duced compared with the number released from sickle cell trait and nonsickle clots in both mice and h

287 Sickle cell trait and sickle cell disease are thought to

288 th sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hype

289 S was associated with faster eGFR decline in sickle cell trait but may be confounded by concurrent he

290 an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell tr

291 2018) and included adult black patients with sickle cell trait or disease (exposures) or normal hemog

292 clined significantly faster in patients with sickle cell trait or sickle cell disease compared with r

293 We identified 1251 patients with sickle cell trait, 230 with sickle cell disease, and 872

294 In subjects with sickle cell trait, heterozygosity for PIEZO1 E756del did

295 In sickle cell trait, low hemoglobin S and elevated hemoglo

296 y cancer in patients of African descent with sickle cell trait.

297 th sickle cell disease than in patients with sickle cell trait.

298 degree of protection to that afforded by the sickle-cell trait and considerably greater than that off

299 th many protective polymorphisms-such as the sickle-cell trait-having been selected to high frequenci

300 ne-edited cells showed a marked reduction of sickle cells, with the level of normal hemoglobin (HbA)