ライフサイエンスコーパス: congenital

1 vidence to say that Zika virus is a cause of congenital abnormalities and is a trigger of GBS.

2 e Zika virus (ZIKV) epidemic has resulted in congenital abnormalities in fetuses and neonates.

3 rtality decreased after the neonatal period; congenital abnormalities remained an important cause of

4 nal deficiency, retinal disorders, and other congenital abnormalities were the leading causes of chil

5 erved between rs1801198 and primary risks of congenital abnormalities, cancer, or Alzheimer disease.M

6 ction during pregnancy can cause devastating congenital abnormities or fetal demise.

7 a virus infection during pregnancy can cause congenital abnormities or fetal demise.

8 samples of patients with reduced FX levels (congenital/acquired FX deficiency or after anti-vitamin

9 Congenital adrenal hyperplasia (CAH), resulting from mut

10 found in inadequately treated patients with congenital adrenal hyperplasia (CAH).

11 Congenital adrenal hyperplasia is a group of autosomal r

12 emorogluteal lipodystrophy and non classical congenital adrenal hyperplasia, and an essential splice

13 ions of CYP21A2, the disease-causing gene in congenital adrenal hyperplasia, we now provide a full st

14 Leber congenital amaurosis (LCA) is a neurodegenerative diseas

15 0-40% in the Rpe65(-/-) mouse model of Leber congenital amaurosis and reduced the number of TUNEL(+)

16 blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are

17 avioral studies of patients with acquired or congenital amusia [5-8] suggest that the right posterior

18 e phenotypes in humans are common among some congenital and acquired allergic diseases.

19 r lens development and to contribute to both congenital and age related cataract when mutated, the ex

20 Congenital and childhood glaucomas have strong genetic b

21 or (CSF3R) have been reported only in severe congenital and idiopathic neutropenia patients.

22 ric hepatology, congenital cardiology (adult congenital and pediatric cardiology), heart failure/tran

23 with respect to NLP outcomes among eyes with congenital aniridia.

24 The spectrum of congenital anomalies affecting either the upper tract (k

25 is associated with seminal defects and with congenital anomalies and childhood cancers in offspring.

26 ed and 33,043 unaffected pregnancies and our congenital anomalies cohort contains 5,658 affected and

27 e small for gestational age, stillbirth, and congenital anomalies did not differ significantly betwee

28 tube defects are among the most common major congenital anomalies in the United States and may lead t

29 Congenital anomalies of the kidney and urinary tract (CA

30 Congenital anomalies of the kidney and urinary tract (CA

31 Congenital anomalies of the kidneys and urinary tract (C

32 Congenital anomalies were considered in the context of t

33 evelopmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic f

34 ing on two distinct outcomes: fetal loss and congenital anomalies.

35 esolution in 273 subjects with a spectrum of congenital anomalies.

36 way malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasound fe

37 ion barrier would transform the treatment of congenital, as well as acquired, heart disease and likew

38 9.4% of mice heterozygous for Npr2 had congenital bicuspid aortic valves, with worse aortic val

39 with cleft palate-one of the most common of congenital birth defects-treatment following surgery is

40 No neonatal losses or cases of congenital botulism were reported.

41 rus infection during pregnancy is a cause of congenital brain abnormalities including microcephaly, a

42 alone may not be sufficient to cause either congenital brain abnormalities or GBS but agreed that th

43 t links between Zika virus infection and (a) congenital brain abnormalities, including microcephaly,

44 Primary microcephaly is a congenital brain malformation characterized by a head ci

45 unrelated families with a slowly progressive congenital cap myopathy.

46 isk standardization for adverse events after congenital cardiac catheterization is needed to equitabl

47 ongenital heart disease or other/unspecified congenital cardiac causes for each state-month birth coh

48 r to those described by children with severe congenital cardiac defects, who have undergone liver tra

49 he fields of adult and pediatric hepatology, congenital cardiology (adult congenital and pediatric ca

50 Congenital cataract is the most frequent inherited ocula

51 l deafness diagnosed soon after birth (5/5), congenital cataracts (4/5), and hypotonia (4/5).

52 of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who un

53 ctrum and frequency of genes responsible for congenital cataracts.

54 onatal diabetes, sensorineural deafness, and congenital cataracts.

55 man gammaD-crystallin mutant associated with congenital cataracts.

56 re reviewed from the 4 member centers of the Congenital Catheterization Research Collaborative.

57 Notably, infants with congenital central nervous system deformities had signif

58 these treatments, with a focus on preventing congenital central nervous system malformations.

59 has fallen since the 1990s, but symptomatic congenital Chagas disease still represents a significant

60 a deeply phenotyped cohort of patients with congenital, childhood-onset SRNS.

61 Congenital CMV infection (cCMV) is the most common conge

62 This is the first study to suggest that congenital CMV infection is a risk factor for childhood

63 Congenital colour vision deficiency (CVD), commonly call

64 ld be considered in patients presenting with congenital connective tissue/myopathy overlap disorders

65 the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is b

66 of 128 MSCT angiography in the diagnosis of congenital cyanotic heart diseases.

67 by gaps in knowledge of the epidemiology of congenital cytomegalovirus (cCMV) with the type of mater

68 ective study was performed using the Spanish Congenital Cytomegalovirus Infection Database.

69 Congenital cytomegalovirus is the most frequent, yet und

70 er congenital infections, including rubella, congenital cytomegalovirus, human immunodeficiency virus

71 study demonstrates differences in effects of congenital deafness between supragranular and other cort

72 ant mouse models for the most common form of congenital deafness in humans, which are knock-outs for

73 ry cortex remained unchanged in animals with congenital deafness.

74 Surges in congenital defects and Guillain-Barre syndrome alerted t

75 nd/or fetal spontaneous abortion, death, and congenital defects in pregnant women treated with any of

76 occurred in 31 (1.7%) versus 33 (1.8%), and congenital defects occurred in 18 (1.0%) versus 20 (1.1%

77 ling has been implicated in various cancers, congenital defects, and cardiovascular diseases.

78 ut not other pathogenic flaviviruses, causes congenital defects.

79 iseases such as transverse hemimelia (TH), a congenital developmental abnormality characterized by ab

80 l extracorporeal membrane oxygenation and/or congenital diaphragmatic hernia with an intelligence quo

81 r observations characterize a new subtype of congenital diffuse lung disease, provide a histological

82 is known about how pathogens associated with congenital disease breach the placental barrier to trans

83 on of ZIKV and other viruses associated with congenital disease.

84 virus (ZIKV) crosses the placenta and causes congenital disease.

85 cations arising from trauma, surgery, and as congenital, disease-associated, or drug-induced blood di

86 art disease is the most frequently occurring congenital disorder affecting approximately 0.8% of live

87 stinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth musc

88 Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a r

89 efects in Notch signaling that contribute to congenital disorders and viral infection, we discuss the

90 rove broadly relevant to understanding other congenital disorders featuring high locus heterogeneity.

91 angements (CGRs) in many cancers and various congenital disorders in humans.

92 and sheds light on the role of TRAP in human congenital disorders of glycosylation.

93 opment, and its disruption can lead to human congenital disorders such as neural tube closure defects

94 o its global transmission and link to severe congenital disorders.

95 geal phenotypes in zebrafish models of human congenital disorders.

96 ent improvements, associated renal lesions - congenital dysplasia, acquired scarring or both - are a

97 Myosin-5B malfunction causes the congenital enteropathy microvillus inclusion disease, un

98 Age-specific incidence curves for congenital esotropia, fully accommodative esotropia, par

99 isolated fourth nerve palsies were presumed congenital, even though they presented throughout adulth

100 advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) a

101 to darkness, benign tonic upgaze of infancy, congenital fibrosis syndrome, and the constellation of u

102 Primary congenital glaucoma (PCG) is a leading cause of blindnes

103 t of conventional angle surgeries in primary congenital glaucoma (PCG), as judged by glaucoma and vis

104 onal partial trabeculotomy (CPT) for primary congenital glaucoma (PCG).

105 central nervous system (CNS) involvement in congenital hCMV infection (cCMV), but its prognostic val

106 ental retardation to microcephaly, caused by congenital HCMV infection can be sufficiently explained

107 the correlation between maternal viremia and congenital HCMV infection.

108 otein H (gH)/gL/pUL128-131 for prevention of congenital HCMV infection.

109 nses that are involved in protection against congenital HCMV infection.IMPORTANCE Neutralizing antibo

110 dditional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-f

111 first-trimester screening on the spectrum of congenital heart defects (CHDs) later in pregnancy and o

112 ios (ORs) for associations between offspring congenital heart defects and maternal hypertensive disor

113 By contrast, complex congenital heart defects continue to require open-heart

114 as been associated with an increased risk of congenital heart defects in offspring; however, the resu

115 ntified pregnancies complicated by offspring congenital heart defects or early preterm preeclampsia,

116 ifferent ages undergoing cardiac surgery for congenital heart defects were isolated and cultured unde

117 ors likely contribute to the pathogenesis of congenital heart defects, but it is unclear whether indi

118 hanical signaling and MET in the etiology of congenital heart defects.

119 The number of patients with adult congenital heart disease (ACHD) is rapidly increasing.

120 Congenital heart disease (CHD) affects up to 1% of live

121 ioventricular nodal reentrant tachycardia to congenital heart disease (CHD) and the outcome of cathet

122 Patients with congenital heart disease (CHD) are assumed to be vulnera

123 Adults with congenital heart disease (CHD) are exposed to increasing

124 Congenital heart disease (CHD) is the leading cause of m

125 ement, there are now more adults living with congenital heart disease (CHD) than children.

126 t common comorbidity associated with complex congenital heart disease (CHD), while the underlying bio

127 for atrial tachyarrhythmias in patients with congenital heart disease (CHD).

128 r than 50% (HR, 0.57; 95% CI, 0.34-0.97) and congenital heart disease (HR, 0.78; 95% CI, 0.64-0.96).

129 with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have t

130 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/un

131 Among the birth defects, congenital heart disease and craniofacial malformations

132 In a patient with congenital heart disease and heterotaxy, a disorder of l

133 tate newborn screening policies for critical congenital heart disease and infant death rates.

134 hrough next-generation sequencing focused on congenital heart disease and neurodevelopmental disorder

135 In patients with congenital heart disease and right bundle branch block,

136 The study population derived from the Quebec Congenital Heart Disease Database.

137 Critical congenital heart disease death rates in states with mand

138 ver the past decades, the landscape of adult congenital heart disease has changed dramatically, which

139 OF), comprising the largest subset of severe congenital heart disease in the cohort.

140 a new group of patients, those who survived congenital heart disease into adulthood, emerged.

141 Post-operative chylothorax in patients with congenital heart disease is a challenging problem with s

142 Congenital heart disease is the most common birth defect

143 Congenital heart disease is the most frequently occurrin

144 patients 10 to 35 years of age undergoing a congenital heart disease operation in the Society of Tho

145 ours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital

146 s >/=48 hours, admission >/=14 days of life, congenital heart disease requiring surgical repair at <7

147 Early infant deaths from critical congenital heart disease through December 31, 2013, decr

148 ry referral centers with a specialized adult congenital heart disease unit.

149 In 2011, critical congenital heart disease was added to the US Recommended

150 Today, most female children born with congenital heart disease will reach childbearing age.

151 tients with liver lymphatic embolization and congenital heart disease with elevated central venous pr

152 yopathies/Myocardial & Pericardial Diseases, Congenital Heart Disease, Coronary Disease & Interventio

153 e an indispensable tool in the evaluation of congenital heart disease, heart failure, cardiac masses,

154 autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and fa

155 XD flow, is demonstrated for (a) evaluating congenital heart disease, where the impact of bulk motio

156 Patients with complex congenital heart disease, who may have undergone previou

157 resenting atrial arrhythmia in patients with congenital heart disease, with a predominantly paroxysma

158 is most commonly attributable to coexistent congenital heart disease, with different risks depending

159 r heart disease, pulmonary hypertension, and congenital heart disease.

160 a devastating complication in patients with congenital heart disease.

161 V) dysfunction in patients after surgery for congenital heart disease.

162 Next we evaluate known human congenital heart diseases: cardiomyopathy and heterotaxy

163 framework for how mutations in GATA6 lead to congenital heart disorders in humans.

164 al success of atrial tachycardia ablation in congenital heart patients was not influenced by complexi

165 ontribute to the observed outcomes of junior congenital heart surgeons being comparable to those of m

166 peration in the Society of Thoracic Surgeons Congenital Heart Surgery Database between January 1, 201

167 The field of congenital heart surgery is poised to incorporate new in

168 reditary xerocytosis (HX) and/or undiagnosed congenital hemolytic anemia.

169 atients with acquired hemophilia A (AHA) and congenital hemophilia A (HA) are primarily directed to t

170 l anti-fVIII immune response in acquired and congenital hemophilia inhibitor patients.

171 y disease of the developing brain.IMPORTANCE Congenital human cytomegalovirus (HCMV) infection is the

172 mportance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogen

173 MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive all

174 n EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested ro

175 tion obstruction is the most common cause of congenital hydronephrosis, yet the underlying pathogenes

176 KATP channels cause the most severe form of congenital hyperinsulinism (KATPHI).

177 t result in a non-functional protein lead to congenital hypothyroidism due to I(-) transport defect (

178 fully rescue the high mortality rate due to congenital hypothyroidism in these mice.

179 cribed in non-temperature-sensitive forms of congenital ichthyosis (Arg143Cys, Gly218Ser, Gly278Arg,

180 ntified as causative for autosomal recessive congenital ichthyosis in humans and dogs.

181 Autosomal recessive congenital ichthyosis is a heterogeneous group of disord

182 two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis.

183 esis may have a prognostic value in terms of congenital infection and neonatal symptomatic disease.

184 Although vaccine development to modify this congenital infection is ongoing, the unique epidemiology

185 ephaly and show how some infants affected by congenital infection might be missed or incorrectly diag

186 ital CMV infection (cCMV) is the most common congenital infection that can cause long-term impairment

187 he first neonate documented to have survived congenital infection with Ebola virus.

188 s associated with a 3-fold greater chance of congenital infection, but it is not correlated with symp

189 ystem caused by human cytomegalovirus (HCMV) congenital infection, the mechanism of HCMV neuropathoge

190 In this review, nonspecific findings of congenital infections initially will be described, then

191 ist, awareness of imaging features of common congenital infections may facilitate early diagnosis and

192 iew, we summarise important aspects of major congenital infections that can cause microcephaly, and d

193 This review focuses on those other congenital infections, including rubella, congenital cyt

194 antibodies, and sera were screened for other congenital infections.

195 of pregnancy complications and prevention of congenital infections.

196 All patients undergoing cardiac surgery and congenital interventions in the United Kingdom are prosp

197 ureteric tissue resected from children with congenital intrinsic ureteropelvic junction obstruction

198 s abnormally regulated during the genesis of congenital intrinsic ureteropelvic junction obstruction.

199 inability to determine AKI status or severe congenital kidney abnormalities.

200 f the mammalian Las1 gene has been linked to congenital lethal motor neuron disease and X-linked inte

201 age (ARR, 1.19), stillbirth (ARR, 1.11), or congenital malformation (ARR, 0.90).

202 ge (ARR, 1.30; 95% CI, 1.07-1.57) but not of congenital malformation (ARR, 1.00; 95% CI, 0.83-1.20) o

203 ndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sut

204 cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of i

205 sease manifestations including microcephaly, congenital malformation, and Guillain-Barre syndrome, Zi

206 rugs were associated with increased rates of congenital malformations (eg, spina bifida, cardiac anom

207 of particular interest in view of the severe congenital malformations - 'neural tube defects' - that

208 Congenital malformations can be manifested as combinatio

209 drugs during pregnancy associated with major congenital malformations in children?

210 NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice.

211 ural tube defects (NTDs) are the most severe congenital malformations of the central nervous system.

212 y tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestati

213 h, stillbirth, small for gestational age, or congenital malformations) in women who underwent endosco

214 nditions (i.e., autism spectrum disorder and congenital malformations), potentially indicating some c

215 is associated with reports of microcephaly, congenital malformations, and Guillain-Barre syndrome.

216 ed individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feed

217 cause of its causal relationship with severe congenital malformations, the ZIKV epidemic became an im

218 asphyxia-related neonatal complications, and congenital malformations, which in turn are associated w

219 ver to severe neurological complications and congenital malformations.

220 s in families in which a person had multiple congenital malformations.

221 tal outcomes, such as microcephaly and other congenital malformations.

222 lt in serious consequences, including severe congenital manifestations, persistent infection in the t

223 5 and was followed by a striking increase in congenital microcephaly cases, triggering a declaration

224 ked to Guillain-Barre syndrome in adults and congenital microcephaly in developing fetuses and infant

225 has been linked to Guillain-Barre syndrome, congenital microcephaly, and devastating ophthalmologic

226 d families and 1 sporadic case with isolated congenital mirror movements (CMM), a disorder characteri

227 ts paralogue RAD51, which is associated with congenital mirror movements phenotypes, a phenotype also

228 rcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the he

229 on and their transition into clinical use in congenital mitochondrial diseases and chronic disorders

230 nocompromised and is a significant source of congenital morbidity and mortality among newborns.

231 c nerve disease in 23 (32.4%), idiopathic or congenital motor nystagmus in 22 (31.0%), manifest laten

232 lishes a PTRH2 mutation as a novel driver of congenital muscle degeneration and identifies a potentia

233 ory distress, and dysphagia (EMARDD), a rare congenital muscle disease, but the pathogenic mechanisms

234 irdle muscular dystrophy 2I (LGMD2I), severe congenital muscular dystrophy 1C (MDC1C), to Walker-Warb

235 onstrate that this mechanism is disrupted in congenital muscular dystrophy patient myotubes carrying

236 demonstrate that mutations in INPP5K cause a congenital muscular dystrophy syndrome with short statur

237 ne glycoprotein dystroglycan cause a form of congenital muscular dystrophy that is frequently associa

238 Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a drama

239 Congenital muscular dystrophy type MDC1A is caused by mu

240 nsferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations i

241 Congenital mutations in RNA exosome genes are associated

242 ranges from the classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210L

243 Congenital myopathies are phenotypically and genetically

244 ovide insight into the mechanisms underlying congenital myopathies.

245 We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and addi

246 n tested in human samples from patients with congenital myotonic dystrophy type 1 (CDM1) and spinal m

247 We also provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out fo

248 et of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS).

249 Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic de

250 ogic features that distinguish it from other congenital neuromuscular syndromes.

251 These 3 patients shared congenital neutropenia linked with various other SDS phe

252 Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle disease charact

253 red to other hypomyelinating disorders, with congenital nystagmus and mild motor delay.

254 Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this st

255 Congenital optic disc anomalies were identified in all 1

256 oma (two ischemic optic neuropathies and two congenital optic disc anomalies).

257 l vascular structure and the pathogenesis of congenital optic disc anomalies.

258 >/=6 years with ocular misalignment owing to congenital or acquired paralytic or comitant strabismus

259 reas inherited mutations are associated with congenital or early-onset cataract.

260 al connections between renal arteries may be congenital or iatrogenic - mainly as a consequence of a

261 are especially useful for addressing severe congenital or very early-onset developmental disorders w

262 dose diagnostic images of a wide spectrum of congenital pathologies may serve as an example of routin

263 e group, together with a pictorial review of congenital pathologies of the chest, and to emphasize fa

264 uals from four unrelated families with fatal congenital pontocerebellar hypoplasia, whereas a case wi

265 correction at a tertiary medical center for congenital ptosis.

266 Congenital pulmonary airway malformation (CPAM) is a rel

267 Myosin storage myopathy (MSM) is a congenital skeletal muscle disorder caused by missense m

268 t mutations in the MAGI2 gene are causal for congenital SRNS.

269 Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull def

270 d use of BPG should be prioritized alongside congenital syphilis elimination efforts.

271 untries were in contact with WHO for related congenital syphilis prevention activities and also repor

272 By studying 20 patients with congenital thrombotic thrombocytopenic purpura (cTTP) wh

273 t function of meibomian glands, ranging from congenital to acquired causes.

274 It fits well with other congenital TORCH infections since there is a rash in the

275 Approximately fifteen million of these have congenital toxoplasmosis.

276 nt treatment is based on plasma infusion for congenital TTP, or plasma exchange, often in combination

277 Five of 586 patients with congenital urinary anomalies had newly identified, heter

278 s similar to those observed in patients with congenital urinary anomalies.

279 Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by uterus di

280 e developed a novel classification system of congenital vascular abnormalities and propose its use in

281 ains.IMPORTANCE HCMV is the leading cause of congenital viral infection, and development of a prevent

282 ction during pregnancy is the major cause of congenital viral sequelae.

283 stinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dil

284 The 2015-16 outbreak of Zika virus and congenital Zika infection brought the world's attention

285 Congenital Zika syndrome (CZS) is known to be associated

286 The virus has been associated with the congenital Zika syndrome (CZS), which can occur with mat

287 ovide an insight into the pathophysiology of congenital Zika syndrome (CZS).

288 Congenital Zika syndrome in the current study had severe

289 We conclude that congenital Zika syndrome is a recognizable pattern of st

290 Congenital Zika syndrome showed a central retinal degene

291 yet determined, a distinctive phenotype-the congenital Zika syndrome-has emerged.

292 examination is recommended in patients with congenital Zika syndrome.

293 Ophthalmic manifestations of congenital Zika syndrome.

294 30, 2016, and were clinically diagnosed with congenital Zika syndrome.

295 Congenital Zika virus infection has stimulated great int

296 ON: The association between microcephaly and congenital Zika virus infection was confirmed.

297 uating the potential causes of microcephaly: congenital Zika virus infection, vaccines, and larvicide

298 rmalities may be the only initial finding in congenital Zika virus infection.

299 ed with the imaging findings associated with congenital Zika virus infection.

300 allenges in choosing therapeutics to prevent congenital ZIKV disease and conducting clinical trials o