ライフサイエンスコーパス: congenital

1 bral vascular malformations that are usually congenital.

2 usly identified in individuals with multiple congenital abnormalities affecting the heart, kidney, ve

3 onset of bone marrow failure and more severe congenital abnormalities compared with a large series of

4 Congenital abnormalities were observed only among the fe

5 ) is a reemerging human pathogen that causes congenital abnormalities, including microcephaly and eye

6 ellectual disability and signature brain and congenital abnormalities.

7 Esophageal atresia (EA/TEF) is a common congenital abnormality present in 1 of 4000 births.

8 All but 2 recipients had a congenital absence of the uterus.

9 t is in clinical trials for the treatment of congenital adrenal hyperplasia.

10 Leber's congenital amaurosis (LCA) is a known inherited retinal

11 Gene therapy for Leber congenital amaurosis (LCA) is becoming available, and th

12 upt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA).

13 reviously shown to cause non-syndromic Leber congenital amaurosis (LCA).

14 ry night blindness (CSNB), recessive Leber's congenital amaurosis (LCA1), and dominant cone-rod dystr

15 cone-rod dystrophy (CORD; 10.94%), and Leber congenital amaurosis (LCA; 3.12%).

16 anging from severe autosomal recessive Leber congenital amaurosis to later onset retinitis pigmentosa

17 Individuals with congenital amusia have a lifelong history of unreliable

18 of 65 patients with unilateral SO palsy; 54 congenital and 11 acquired, who met the study criteria a

19 An accurate distinction between congenital and acquired cases of pregnancy-related TTP i

20 II antiarrhythmics, e.g., dofetilide, rescue congenital and acquired forward trafficking defects, thi

21 ant difference in graft survival between the congenital and acquired groups (Mantel-Cox P = .1031).

22 , and offer practical prospects for treating congenital and acquired immunological diseases.

23 n combination with dofetilide corrected both congenital and acquired K(v)11.1 trafficking defects, re

24 development, and highlight new insights into congenital and acquired valve disease.

25 rve as a new pharmacological therapy of both congenital and drug-induced K(v)11.1 trafficking defects

26 on, which in humans, has been known to cause congenital and infantile cataracts.

27 enge and has important consequences for both congenital and late-onset disease.

28 rovement in VA in both groups (P = .0022 for congenital and P < .0001 for acquired).

29 Pediatric cases were aged <18 years; congenital and perinatal infections were excluded.

30 uding the cause of limb absence (acquired or congenital) and hours of daily prosthesis wear.

31 (16 eyes) were observed more frequently than congenital aniridia (1 eye), iatrogenic causes (1 eye),

32 Medical records of patients diagnosed with congenital aniridia were retrospectively reviewed.

33 CTT showed good success in children with congenital aniridia with early-onset glaucoma.

34 as no evidence of an increased risk of major congenital anomalies among pregnant women exposed to oma

35 ival of individuals born with specific major congenital anomalies and examine the factors associated

36 ccording to the European Concerted Action on Congenital Anomalies and Twins (EUROCAT) classification

37 though infant survival of children born with congenital anomalies has improved for many anomaly types

38 While congenital anomalies like duplication cysts and divertic

39 9%; 170 babies), pregnancy complications and congenital anomalies occurred in 13 (11.6%) and 2 (1.8%)

40 Congenital anomalies of the kidney and urinary tract (CA

41 ctual disability, developmental delay and/or congenital anomalies of the kidney and urinary tract.

42 Congenital anomalies or scarring from previous surgeries

43 vement in survival of children with specific congenital anomalies over the last few decades and predi

44 cable diseases, the relative contribution of congenital anomalies to child mortality is increasing.

45 DBA is characterized by anemia, congenital anomalies, and cancer predisposition.

46 est were spontaneous abortions, stillbirths, congenital anomalies, and neonatal death (serious advers

47 nting diseases categories in trauma, cancer, congenital anomalies, maternal/reproductive health, agin

48 rt of subjects with developmental delays and congenital anomalies.

49 s9 gene-edited mouse model revealed multiple congenital anomalies.

50 of long-term survival associated with major congenital anomalies.

51 nancy was associated with higher odds of any congenital anomaly (N=23,300, k=11; prevalence=4.1%, k=1

52 CHARGE syndrome, a rare multiple congenital anomaly condition, is caused by haploinsuffic

53 41 studies (n = 54,676) investigating eight congenital anomaly types (spina bifida [n = 7,422], ence

54 year of life) of children born with a major congenital anomaly with the follow-up starting from birt

55 eporting on the safety (primary outcome, any congenital anomaly) or efficacy (primary outcome, mood r

56 Inborn olfactory loss, or congenital anosmia (CA), is relatively rare and there is

57 A patient with congenital aortic atresia and limited dialysis access op

58 te the phenotypic severity observed in young congenital BBS mutant mice.

59 ommon underlying causes of child deaths were congenital birth defects (39 [13%] of 304 deaths), lower

60 le of causing illness in infected adults and congenital birth defects in infants born to mothers infe

61 he world's population, is a leading cause of congenital birth defects, and poses serious risks for im

62 preterm delivery, maternal adverse effects, congenital birth defects, childhood cancer.

63 Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome associated with

64 een prenatal Zika Virus (ZIKV) infection and congenital brain abnormalities including microcephaly.

65 owed signs of cortical dysgenesis leading to congenital brain malformations such as polymicrogyria co

66 The C3PO-QI (Congenital Cardiac Catheterization Project on Outcomes -

67 Seventy-four (45.1%) children had congenital cataract, 31.1% had developmental cataract, a

68 terized by cognitive deficiencies, bilateral congenital cataracts and renal dysfunction.

69 Individuals with reversed congenital cataracts showed a bias towards perceiving vi

70 The median age at presentation for congenital cataracts that were noticed by the mother was

71 Key clinical features include congenital cataracts, hypotonia, prenatal-onset ventricu

72 the limbs, contractures, facial dysmorphism, congenital cataracts, ichthyosis, spasticity, microcepha

73 itive and specific diagnostic techniques for congenital Chagas disease may help improve regional init

74 creased the number of infants diagnosed with congenital Chagas disease, many infants remain undiagnos

75 thers, 65 infants (4.9%) were diagnosed with congenital Chagas disease.

76 However, treatment strategies for congenital CMV (cCMV) infection during pregnancy remain

77 accines to immunize women to protect against congenital CMV disease and to prevent the consequences o

78 ty does not protect the fetus from acquiring congenital CMV infection (cCMV).

79 Congenital CMV infection (cCMVi) affects 0.5-1% of all l

80 and laboratory abnormalities in infants with congenital CMV infection born to mothers with nonprimary

81 tential impact of vaccination for preventing congenital CMV infection.

82 by low incidence of disease, especially for congenital CMV.

83 Anomalous trichromacy is a common form of congenital color deficiency resulting from a genetic alt

84 ited thoracic aortopathies denote a group of congenital conditions that predispose to disease of the

85 Among congenital conditions, annular pancreas, duplication cys

86 iduals with Freeman-Sheldon and Sheldon-Hall congenital contracture syndrome.

87 mb, lead to Freeman-Sheldon and Sheldon-Hall congenital contracture syndromes.

88 tification of numerous genes associated with congenital craniofacial anomalies, our understanding of

89 Kabuki syndrome (KS) is a congenital craniofacial disorder resulting from mutation

90 Congenital cytomegalovirus (cCMV) infection is a leading

91 Congenital cytomegalovirus (cCMV) infection is a major c

92 In women seronegative before pregnancy, congenital cytomegalovirus (cCMV)-related sequelae are e

93 The exact contribution of congenital cytomegalovirus infection (cCMVI) to permanen

94 ments of the vasculature in animal models of congenital deafness and ischemic stroke, revealing that

95 Mid stage, congenital defects and neurological lesions in foetuses

96 CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (C

97 completed weeks of gestation without severe congenital defects were eligible for inclusion.

98 linical features, including various cancers, congenital defects, and progeroid pathologies.

99 nesis, leads to fetal growth restriction and congenital deformities.

100 erience from other vaccines directed against congenital disease (including rubella and Zika) may be i

101 and the use of hiPSC-cardiomyocyte models of congenital disease phenotypes for guiding large-scale sc

102 ing over causes infertility, miscarriage and congenital disease.

103 primary strategy to reduce the incidence of congenital disease.

104 t in undetectable serum manganese (Mn) and a Congenital Disorder of Glycosylation (CDG) due to the ex

105 microcephaly, developmental delays, or other congenital disorders collectively known as congenital Zi

106 Cases of congenital disorders of glycosylation (CDG) have been as

107 utations in other conditions, including many congenital disorders.

108 nd genetic resources to advance the study of congenital disorders.

109 meiosis, a leading cause of infertility and congenital disorders.

110 edding light on the etiology of CHD7-related congenital disorders.

111 , and reproducible test for the diagnosis of congenital dyschromatopsia.

112 The E325K mutation causes congenital dyserythropoietic anemia (CDA) type IV, chara

113 et al describe studies in a murine model of congenital erythropoietic porphyria (CEP).

114 Congenital extrahepatic portosystemic shunt (CEPS) or Ab

115 inicore disease, centronuclear myopathy, and congenital fiber type disproportion.

116 7, Arg260, and Asp404 found in patients with congenital FXIII-A deficiency.

117 This approach, which mimics congenital FXIII-B deficiency, provides a potential phar

118 Seipin deficiency causes severe congenital generalized lipodystrophy (CGL) and metabolic

119 diac Failure & Myocarditis, Cardiomyopathies/Congenital & Genetics, Cardio-Oncology, Coronary Disease

120 The main indication was congenital glaucoma (29.4%).

121 pared with those with neonatal-onset primary congenital glaucoma (N-PCG).

122 Diagnoses included primary congenital glaucoma (PCG n = 22), juvenile open angle gl

123 nd life satisfaction (LS) of treated primary congenital glaucoma (PCG) patients in adulthood.

124 Primary congenital glaucoma (PCG) was the most common diagnosis

125 Rejection and diagnosis of congenital glaucoma were risk factors for graft failure.

126 t of mAb therapeutics, and the etiology of a congenital glycosylation disorder.

127 rinatal HCMV infections is the occurrence of congenital HCMV infections (cCMV) in women with existing

128 r signaling in maternal anti-SSA/Ro-mediated congenital heart block (CHB).

129 (Preventive Approach to Congenital Heart Block With Hydroxychloroquine [PATCH];

130 pid aortic valve (BAV) is the most prevalent congenital heart defect affecting 1% to 2% of the popula

131 ntricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down

132 FQ were included; among offspring, 543 had a congenital heart defect.

133 orn prematurely (<37 weeks gestation); had a congenital heart defect; had history in the past 2 weeks

134 ternal lifestyle during pregnancy related to congenital heart defects (CHD) in Shaanxi province, Nort

135 Background In women with congenital heart defects (CHD), changes in blood volume,

136 ls to the poles of the heart tube results in congenital heart defects (CHD).

137 Studies on congenital heart defects (CHDs) were excluded because of

138 Congenital heart defects (persistent truncus arteriosus

139 Congenital heart defects are the most common birth defec

140 the largest genome-wide association study of congenital heart defects available (2594 cases and 5159

141 ted, is associated with an increased risk of congenital heart defects in offspring.

142 association between GI and GL and offspring congenital heart defects was estimated by logistic regre

143 and a moderately increased risk of offspring congenital heart defects was observed.

144 abnormalities, hypoplastic corpus callosum, congenital heart defects, and central hypoventilation.

145 al-level information on GI and GL, offspring congenital heart defects, and health and lifestyle covar

146 concern because of its involvement in common congenital heart defects, and the PV is usually the site

147 n in neonatal patients with single ventricle congenital heart defects, but this complex procedure car

148 In cases of congenital heart defects, localized ultrastructural disr

149 tened drinks increased the risk of offspring congenital heart defects.

150 midpregnancy and increased offspring risk of congenital heart defects.

151 carditis (14%), valvular heart disease (8%), congenital heart disease (2%), hypertrophic cardiomyopat

152 Nearly 90% of patients with adult congenital heart disease (ACHD) die after the age of 40

153 Patients with congenital heart disease (CHD) comprised 57% of the coho

154 Congenital heart disease (CHD) is associated with abnorm

155 d Impaired brain development in fetuses with congenital heart disease (CHD) may result from inadequat

156 Studies of neuropsychiatric disorders and congenital heart disease (CHD) which use de novo mutatio

157 zed by multiple congenital defects including congenital heart disease (CHD).

158 l and regional brain volumes in infants with congenital heart disease (CHD).

159 y of transcriptional regulators causes human congenital heart disease (CHD); however, the underlying

160 of CVD included arrhythmia (n = 88, 28.8%), congenital heart disease (n = 72, 23.5%), and cardiomyop

161 oach enables multiscale studies in models of congenital heart disease and beyond.

162 stic left heart syndrome (HLHS) is a complex congenital heart disease characterized by abnormalities

163 II, Mayo Clinic Bipolar Disorder, and Quebec Congenital Heart Disease EHR datasets.

164 Prenatal detection of congenital heart disease facilitates the opportunity for

165 e sequencing as part of the CHD GENES study (Congenital Heart Disease Genetic Network).

166 , in mediating RV hypertrophy and failure in congenital heart disease is unknown.

167 uplicate the centriole with implications for congenital heart disease mechanisms.

168 zation therapy (CRT) studies in pediatric or congenital heart disease patients have shown an improvem

169 In pediatric and congenital heart disease patients with symptomatic systo

170 rt transplant-free survival in pediatric and congenital heart disease patients, using a propensity sc

171 In patients with congenital heart disease undergoing open-heart surgery,

172 We studied 2517 patients with congenital heart disease who had undergone whole-exome s

173 of Fallot (TOF) is the most common cyanotic congenital heart disease, and sudden cardiac death repre

174 imary tricuspid regurgitation in adults with congenital heart disease, but the prevalence and prognos

175 risk factors (early and late preterm birth, congenital heart disease, chronic lung disease, intensiv

176 Patient phenotypes include congenital heart disease, craniofacial malformations, an

177 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type

178 recurrence was associated with younger age, congenital heart disease, multiple AP, AP location (righ

179 umber variants are enriched in patients with congenital heart disease, particularly those with extra-

180 latory disease conditions (including stroke, congenital heart disease, rhythm disorders, subclinical

181 with known cardiovascular pathology, such as congenital heart disease, timely counselling is possible

182 , aortic valve disease, atrial fibrillation, congenital heart disease, various cardiomyopathies, obes

183 nsights into the etiology and treatments for congenital heart disease.

184 pediatric cardiopulmonary bypass surgery for congenital heart disease.

185 tual disability and genetic risk factors for congenital heart disease.

186 throat surgery; 15.6 (95% CI 9.57-25.4) for congenital heart disease; 1.74 (95% CI 1.33-2.29) for di

187 Congenital heart diseases (CHDs), including hypoplastic

188 the evaluation of structural heart diseases, congenital heart diseases, peri-procedural electrophysio

189 heart failure, valvular heart diseases, and congenital heart diseases.

190 407) were included, representing ~85% of US congenital heart programs.

191 cipating in the Society of Thoracic Surgeons Congenital Heart Surgery Database (2014-2017) were inclu

192 In contrast to congenital hemophilia, the patient's residual FVIII acti

193 renal cysts as part of nephronophthisis and congenital hepatic fibrosis (CHF) in the liver.

194 Congenital hydrocephalus (CH), characterized by enlarged

195 cation to treat nesidioblastosis and diffuse congenital hyperinsulinism has varying efficacy and caus

196 cell mass and function: the focal variant of congenital hyperinsulinism.

197 ered migration of GnRH neurons, resulting in congenital hypogonadotropic hypogonadism (CHH), a hetero

198 Immunodeficiency syndromes (acquired/congenital/iatrogenic) are known to increase Hodgkin lym

199 Autosomal recessive congenital ichthyosis (ARCI) is a diverse group of corni

200 option for keratinization disorders such as congenital ichthyosis and Darier disease.

201 order of frequency were PCG, glaucoma after congenital idiopathic cataract surgery, and glaucoma ass

202 ients without hematopoietic cell transplant, congenital immunodeficiency (adjusted odds ratio, 1.90;

203 justed odds ratio, 3.15; 95% CI, 2.09-4.74), congenital immunodeficiency (adjusted odds ratio, 6.94;

204 nancies, hemophagocytic lymphohistiocytosis, congenital immunodeficiency, and hematopoietic cell tran

205 n cytomegalovirus (HCMV), a leading cause of congenital infection and a major pathogen in immunocompr

206 Cytomegalovirus (CMV) is the most common congenital infection and infectious cause of fetal anoma

207 omegalovirus (CMV) is the commonest cause of congenital infection and particularly so among infants b

208 ction is essential to antenatally diagnose a congenital infection and reactivation of a past infectio

209 new viral strains could be a major source of congenital infection in such populations.

210 r hypoxia (130 [72%] of 180 stillbirths) and congenital infection or sepsis (27 [15%]).

211 .8-fold increase (30% vs 56%) in the rate of congenital infection without HIG (adjusted odds ratio [A

212 e development of HCMV vaccines is to prevent congenital infection, the animal model in question must

213 we should know soon whether they can prevent congenital infection.

214 an lead to severe pathology in patients with congenital infections and immunosuppressed patients.

215 Radiation dose is greater than for other congenital interventions and is associated with patient

216 The identification of a syndromic stationary congenital IRD has a major impact on the differential di

217 t on the differential diagnosis of syndromic congenital IRD, which has previously been exclusively li

218 Rare LEP mutations associated with congenital leptin deficiency cause severe early-onset ob

219 We developed a mouse model where a congenital loss-of-function allele of Grin1 can be resto

220 They were considered not affected by congenital LQTS and are henceforth referred to as "cases

221 These individuals are not affected by congenital LQTS but could have a form of acquired LQTS.

222 antation during adulthood in patients with a congenital LUTM.

223 de (NAD) synthesis pathway, are causative of congenital malformation and miscarriage in humans and mi

224 Hypospadias is a congenital malformation resulting from the disruption of

225 lated individuals presenting with a multiple congenital malformation syndrome in whom we identified h

226 sociation between metronidazole exposure and congenital malformations (odds ratio, 0.96 [95% CI, 0.75

227 dafinil use during early pregnancy and major congenital malformations among infants born in Norway an

228 e Americas and the Caribbean associated with congenital malformations and Guillain-Barre syndrome in

229 ts expand our understanding of the causes of congenital malformations and the importance of sufficien

230 al tube defects (NTDs) are a group of severe congenital malformations caused by a failure of neural t

231 This study demonstrates that congenital malformations caused by NAD deficiency can oc

232 P11 haploinsufficiency in the development of congenital malformations in humans.

233 orthobunyavirus that can cause abortions and congenital malformations in the offspring of ruminants.

234 na bifida (OSB) is one of the most prevalent congenital malformations of the CNS that often leads to

235 na bifida (OSB) is one of the most prevalent congenital malformations of the CNS.

236 iated with an increase in infant deaths from congenital malformations of the nervous (NO2, 1.525 [1.1

237 virus (ZIKV) has caused an epidemic of fetal congenital malformations within the Americas.

238 s to investigate the molecular basis of rare congenital malformations, a significant fraction of pati

239 he longest-range human enhancers involved in congenital malformations, directly demonstrate that PRS

240 lated families with a variety of overlapping congenital malformations, including cardiac, vertebral,

241 es have explored safety in relation to major congenital malformations, particularly in the first trim

242 Drug exposure did not increase the rate of congenital malformations, spontaneous abortions, preterm

243 ary analysis was a comparison of 5 outcomes (congenital malformations, spontaneous abortions, preterm

244 ster exposure to modafinil and risk of major congenital malformations.

245 In utero exposure to antibiotics and risk of congenital malformations: a population-based study.

246 rhabdoid tumours, renal cell carcinomas, and congenital mesoblastic nephromas.

247 ful screening indicator for the detection of congenital microcephaly associated with ZIKV infection.

248 shared craniofacial dysmorphisms, including congenital microcephaly, that were strikingly different

249 shifts in muscle-specific isoforms result in congenital multi-minicore myopathy.

250 ablish TRIP4 as a causative gene for several congenital muscle diseases, including nemaline, core, ce

251 COL6) is known for its role in a spectrum of congenital muscular dystrophies, which are often accompa

252 Laminin-alpha2 related congenital muscular dystrophy (LAMA2-CMD) is a fatal mus

253 Congenital myasthenic syndromes (CMS) are characterized

254 Congenital mydriasis and retinal arteriolar tortuosity a

255 MSMDS-related congenital mydriasis is due to reduced iris sphincter co

256 Previous reports attributed MSMDS-related congenital mydriasis to the absence of iris sphincter mu

257 2 (CFL2) mutations have been associated with congenital myopathies that include nemaline and myofibri

258 RYR1) gene are associated with several human congenital myopathies, including the dominantly inherite

259 gene TRIP4 have been associated with SMA or congenital myopathy.

260 ur findings expand the genotypic spectrum of congenital NAD deficiency disorders and further implicat

261 l duct probing is the standard treatment for congenital nasolacrimal duct obstruction (CNLDO) among c

262 despread cases of neurological pathology and congenital neurologic defects.

263 other flaviviruses, ZIKV infection can cause congenital neurological disorders and replicates efficie

264 ere we generate mouse models of human severe congenital neutropenia (SCN) using patient-derived mutat

265 oth in-office and facility-based surgery for congenital NLDO.

266 defect of the glycolytic pathway that causes congenital nonspherocytic hemolytic anemia.

267 l coloboma represents one of the most common congenital ocular malformations accounting for up to 10%

268 tors include fair skin, light-coloured eyes, congenital ocular melanocytosis, ocular melanocytoma and

269 lace the facial appearance of a patient with congenital or acquired deformity numerically along their

270 Reports in the system organ class "congenital or familial disorders" were searched for NTDs

271 d by the study team as vascular, neoplastic, congenital, other neurologic, or non-neurologic.

272 ters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities.

273 Congenital pulmonary airway malformation volume ratio (C

274 results of multimodal imaging in a case of a congenital retinal macrovessel associated with a retinal

275 Congenital retinal macrovessels and retinal cavernous he

276 on of the ATOH7 human SE causes nonsyndromic congenital retinal nonattachment (NCRNA) disease, charac

277 Congenital scoliosis (CS) is a complex genetic disorder

278 ity to somitogenesis defects associated with congenital scoliosis in amniotes.

279 intestinal aganglionosis, and nonrecoverable congenital secretory diarrhea.

280 e of Usher syndrome type 2, characterized by congenital sensorineural hearing loss and retinitis pigm

281 microangiopathy (TMA) caused by acquired or congenital severe deficiency of ADAMTS13.

282 directly into systemic circulation through a congenital shunt.

283 The congenital sideroblastic anemias (CSAs) can be caused by

284 ions in TRPV3 result in the development of a congenital skin disorder, Olmsted syndrome.

285 e tested how the mutations causing recessive congenital stationary night blindness (CSNB), recessive

286 Congenital structural brain malformations have been desc

287 tion, with increases in early syphilis (ES), congenital syphilis, and PWID, especially in nonurban co

288 nch Canadians with a novel form of recessive congenital TNNT1 core-rod myopathy.

289 lth was made clear with the first reports of congenital toxoplasmosis in the 1940s.

290 Failure of this event leads to congenital vision impairment in the form of coloboma.

291 rus (ZIKV) infection is now firmly linked to congenital Zika syndrome (CZS), including fetal microcep

292 s in the fetus resulting in a disease termed congenital Zika syndrome (CZS).

293 a mosquito-borne human pathogen that causes congenital Zika syndrome and neurological symptoms in so

294 r congenital disorders collectively known as congenital Zika syndrome, as well as Guillain-Barre synd

295 us infection of pregnant women can result in congenital Zika syndrome, the factors that cause the syn

296 is now understood to be a severe outcome of congenital Zika syndrome, the role of viral genetics is

297 developmental malformations associated with congenital Zika syndrome.

298 n the disease mechanisms, including those of congenital Zika syndrome.

299 alternative strategy for protection against congenital ZIKV infection without causing ADE.

300 ated reports of microcephaly for evidence of congenital ZVD.