ライフサイエンスコーパス: spina bifida

1 NTDs, both cranial (exencephaly) and spinal (spina bifida).

2 isk for neural tube defects (anencephaly and spina bifida).

3 formation, preventing zippering and causing spina bifida.

4 g variants in two samples from patients with spina bifida.

5 dence interval (CI): 1.0, 15.4), but not for spina bifida.

6 uld be associated with an increased risk for spina bifida.

7 ernal folic acid intake in the occurrence of spina bifida.

8 among health care workers and children with spina bifida.

9 cially health care workers and children with spina bifida.

10 terminations) for anencephaly and 70.2% for spina bifida.

11 t was a risk factor for both anencepahly and spina bifida.

12 y to the multifactorial, neural tube defect, spina bifida.

13 f the TIVS7-2 allele of the human T gene and spina bifida.

14 onsidered eligible for fetal closure of open spina bifida.

15 ischisis, or iniencephaly) and 22 (32%) were spina bifida.

16 osure defects (NTDs) such as anencephaly and spina bifida.

17 resuscitation during fetal surgery for open spina bifida.

18 ube closure, disruption of which may lead to spina bifida.

19 ents with myelomeningocele, a severe form of spina bifida.

20 leads to open neural tube defects including spina bifida.

21 ral tube to convergence defects that lead to spina bifida.

22 ght in meters squared, of >/=30 vs. <30) and spina bifida.

23 ositol 3' kinase (PI3K) activity resulted in spina bifida.

24 f receptor signaling in these cells leads to spina bifida.

25 sgenesis and demonstrated complete rescue of spina bifida.

26 s dorsally and lack DLHPs, developing severe spina bifida.

27 echanical support for the neural tube causes spina bifida.

28 similar to the human open neural tube defect spina bifida.

29 neuropore closure leading to exencephaly and spina bifida.

30 d posterior to the forelimb buds and lead to spina bifida.

31 the ultimate outcome for most children with spina bifida.

32 rinary tract reconstruction in children with spina bifida.

33 -homocysteine metabolic axis and the risk of spina bifida.

34 duces forebrain defects, facial defects, and spina bifida.

35 included 73 cases with anencephaly, 123 with spina bifida, 277 with CLP, and 117 with cleft palate on

36 ere prenatally diagnosed: anencephaly (87%), spina bifida (62%), encephalocele (83%), cleft palate (0

37 ailure of this closure process leads to open spina bifida, a common cause of severe neurologic disabi

38 progenitor cell death in the pathogenesis of spina bifida-a common human congenital malformation.

39 s exencephaly, acrania, facial clefting, and spina bifida, all of which can be attributed to failed n

40 nia study found a modestly increased risk of spina bifida among infants who were homozygous for the C

41 s of MTHFR in 214 liveborn case infants with spina bifida and 503 control infants for whom informatio

42 prevalence of neural tube defects, including spina bifida and anencephaly (SBA), causing a high numbe

43 vention against folic acid-preventable (FAP) spina bifida and anencephaly (SBA).

44 Birth certificate reports of spina bifida and anencephaly before fortification (Octob

45 olic acid; only a quarter of all preventable spina bifida and anencephaly cases worldwide are current

46 resolution could accelerate the slow pace of spina bifida and anencephaly prevention globally, and wi

47 ren born with serious malformations (such as spina bifida and anencephaly) could be reduced by half.

48 Neural tube defects (NTDs), including spina bifida and anencephaly, are severe birth defects o

49 ss results in neural tube defects, including spina bifida and anencephaly, which are among the most c

50 fore pregnancy prevents most cases of infant spina bifida and anencephaly-two major neural tube defec

51 e embryos presenting with varying degrees of spina bifida and anencephaly.

52 quenced samples obtained from human cases of spina bifida and anencephaly.

53 ive, and sustainable intervention to prevent spina bifida and anencephaly.

54 or insufficiency is the predominant cause of spina bifida and anencephaly.

55 uctive age an adequate folic acid to prevent spina bifida and anencephaly.

56 ith folic acid to prevent the development of spina bifida and anencephaly.

57 in human embryos leads to defects including spina bifida and anencephaly.

58 ations in SCRIB SADH domains associated with spina bifida and cancer impact the stability of SCRIB at

59 isturbed, causes congenital diseases such as spina bifida and cleft palate.

60 the etiology of human birth defects, such as spina bifida and congenital kidney cysts.

61 ce have increased incidence of NTDs, such as spina bifida and exencephaly.

62 Mortality was lowest (<3%) in spina bifida and facial cleft procedures, and highest (>

63 (4) Children with spina bifida and fecal incontinence may benefit from tec

64 ciated with maternal obesity was greater for spina bifida and for other less prevalent NTDs than for

65 ants exhibit NTDs consisting of exencephaly, spina bifida and forebrain truncations, while Fpn1(ffe/K

66 ility to predict and modify the incidence of spina bifida and other neural tube defects.

67 fects, and homozygous mutant embryos develop spina bifida and sometimes exencephaly.

68 background, 12% of mid-gestation embryos had spina bifida and/or exencephaly, whereas wild-type anima

69 onfirmed primary NTD (anencephaly and select spina bifida) and any NTD (primary and other NTD) were c

70 logies: failure of the neural tube to close (spina bifida) and multiple neural tubes (diastematomyeli

71 re were 87 cases of anencephaly, 96 cases of spina bifida, and 14 cases of encephalocele for respecti

72 ncephaly, hydroxybenzonitrile herbicides for spina bifida, and 2,6-dinitroaniline herbicides and dith

73 ral tube defects show that anencephaly, open spina bifida, and craniorachischisis result from failure

74 mutant embryos lack caudal somites, develop spina bifida, and die at 9.5-12.5 days of embryonic deve

75 is a lifelong necessity for individuals with spina bifida, and should be provided by a multidisciplin

76 efects observed include both exencephaly and spina bifida, and the phenotype exhibits partial penetra

77 haly; the herbicide bromoxynil octanoate for spina bifida; and trifluralin and maneb for CLP.

78 ey compared data on 1,242 infants with NTDs (spina bifida, anencephaly, and encephalocele) with data

79 her percentages of maternal diabetes-induced spina bifida aperta but not exencephaly, and this increa

80 T, Tbx6 and Fgf8 at the tail bud, leading to spina bifida aperta, caudal axis bending and tail trunca

81 th variants, the risk of having a child with spina bifida appears to increase with the number of high

82 Neural tube defects (NTDs), such as spina bifida, are common and severe birth defects in hum

83 vitamins containing folic acid, the risk of spina bifida, as measured by the odds ratio, was 1.6 (95

84 Some data suggest that the risk for spina bifida associated with C677T homozygosity may depe

85 on removed 27 genes, including PAX3, a known spina bifida-associated gene.

86 hunt-dependent hydrocephalus in infants with spina bifida, but increases the incidence of premature d

87 wth factor receptor (PDGFR) alpha results in spina bifida, but the underlying mechanism has not been

88 ernal and embryonic genetic risk factors for spina bifida by use of the two-step transmission/disequi

89 eased rates of congenital malformations (eg, spina bifida, cardiac anomalies).

90 Up to 70% of spina bifida cases can be prevented by maternal, pericon

91 Among 180 anencephalic cases, 385 spina bifida cases, and 3, 963 controls, 21.1%, 25.2%, a

92 ion of the neural tube, tail distortion, and spina bifida caused by the amplification of neural tissu

93 e 2019 and March 2020 at a multidisciplinary spina bifida center at a single, free-standing children'

94 orth American studies: a study of mothers of spina bifida children and control mothers (1995-1996; n

95 iated with an increased risk of anencephaly, spina bifida, cleft lip with or without cleft palate (CL

96 ure to inhaled beta2-agonists were found for spina bifida, cleft lip, anal atresia, severe congenital

97 All Noggin-/- pups are born with lumbar spina bifida; depending on genetic background, they may

98 that generates a complex phenotype including spina bifida, exencephaly and cardiac outflow tract abno

99 s in place to support fetal surgery for open spina bifida, exploring experiences and management of em

100 ance and penetrance to analyse data from the spina bifida families.

101 vision during minimally invasive fetoscopic spina bifida (fSB) repair.

102 clinical trial to assess in utero closure of spina bifida has been initiated in the USA.

103 Among adolescents and young adults with spina bifida, high rates of unsuccessful transition have

104 of epilepsy and bipolar disorder but causes spina bifida if taken during pregnancy.

105 ropore closure and developed exencephaly and spina bifida, important human congenital anomalies.

106 nic defect that is known to lead directly to spina bifida in curly tail embryos.

107 In order to test the hypothesis that spina bifida in curly tail mice results from insufficien

108 Spina bifida in curly tail results from a cell type-spec

109 n chromosomal location and the occurrence of spina bifida in Grhl3 null mice.

110 study variable significantly associated with spina bifida in multivariate analysis.

111 DGFR inhibitor imatinib mesylate resulted in spina bifida in the absence of NTDs.

112 The pathogenesis and etiology of spina bifida in the curly tail mouse closely resemble de

113 yos homozygous for the Pax3Sp-d gene develop spina bifida in the lumbosacral region of the neuraxis.

114 ing that these loci were not major genes for spina bifida in these families.

115 but they display striking features of human spina bifida, including a dysplastic spinal cord, open n

116 Spina bifida is a NTD where the spinal cord is dysplasti

117 improves neurologic outcome in infants with spina bifida is not known.

118 Adult ambulatory status in spina bifida is significantly predictive (89% accurate)

119 Meningomyelocele (also known as spina bifida) is considered to be a genetically complex

120 efects (NTDs), specifically, anencephaly and spina bifida, is now well recognized, having been establ

121 s come from the finding that closure of open spina bifida lesions in utero can diminish neurological

122 able analysis, health literacy, age, type of spina bifida, level of education, self-administration vs

123 s of protocol, whereas for anomalies such as spina bifida, limb reduction defects, and major cardiac

124 ts of children with certain conditions (e.g. spina bifida), may adversely affect parental health.

125 of myelomeningocele, the most common form of spina bifida, may result in better neurologic function t

126 e aged 12 years or older with a diagnosis of spina bifida (myelomeningocele and nonmyelomeningocele)

127 ing from posterior urethral valves (n = 49), spina bifida (n = 21), central neurogenic bladder (n = 1

128 nvestigating eight congenital anomaly types (spina bifida [n = 7,422], encephalocele [n = 1,562], oes

129 Individuals with spina bifida need both surgical and medical management.

130 the profound craniofacial abnormalities and spina bifida observed in PDGFRalpha knockout mice and pr

131 nts develop polyhydramnios, hydrops fetalis, spina bifida occulta and osteochondrodysplasia.

132 formation of the spinous process, mimicking spina bifida occulta, a common malformation in humans.

133 e defects consisting of both exencephaly and spina bifida occulta, an unusual combination.

134 ect produces one of very few mouse models of spina bifida occulta.

135 Survival for children with spina bifida, oesophageal atresia, biliary atresia, diap

136 eural-tube closure similar to those in human spina bifida, one of the most serious congenital birth d

137 otor function other than cerebral palsy (eg, spina bifida or muscle diseases) were excluded.

138 Open spina bifida or myelomeningocele (MMC) is a devastating

139 nencephaly (OR = 2.58, 95% CI 1.19-5.61) and spina bifida (OR = 3.71, 95% CI 1.48-9.31).

140 Spina bifida, or failure of the vertebrae to close at th

141 er of pregnancy).SIGNIFICANCE STATEMENT Open spina bifida (OSB) is one of the most prevalent congenit

142 Open spina bifida (OSB) is one of the most prevalent congenit

143 Fifty-six percent of spina bifida patients and 92% of health care workers wit

144 r from chondrocytes did not recapitulate the spina bifida phenotype.

145 ociated with a moderately increased risk for spina bifida (pooled odds ratio = 1.8; 95% confidence in

146 e anencephaly rate (4.9 per 10,000) than the spina bifida rate (6.7 per 10,000).

147 ay genetically co-segregated exencephaly and spina bifida, recapitulating the phenotypes observed in

148 surgery centers in 11 countries where fetal spina bifida repair is currently performed.

149 onatal resuscitation was managed during open spina bifida repair.

150 Spina bifida results from failure of fusion of the cauda

151 If dorsolateral bending fails, spina bifida results.

152 hors investigated whether an interaction for spina bifida risk existed between infant MTHFR C677T gen

153 Spina bifida (SB) is a complex disorder of failed neural

154 Spina bifida (SB) is a debilitating birth defect caused

155 Open fetal surgery for spina bifida (SB) is safe and effective yet invasive.

156 Spina bifida (SB) patients afflicted with myelomeningoce

157 latex-allergic health care workers (HCW) and spina bifida (SB) patients.

158 A randomized trial demonstrated that fetal spina bifida (SB) repair is safe and effective yet invas

159 l cells (PMSCs) as a potential treatment for spina bifida (SB), a neural tube defect.

160 osterior NTDs consistent with a diagnosis of spina bifida (SB).

161 We assembled the Spina Bifida Sequencing Consortium to identify causes.

162 e of gastrulation-specific defects including spina bifida, shortened anteroposterior axis, and reduce

163 A review of new developments in spina bifida shows that many cases are preventable by ad

164 Elevated risks of NTDs and anencephaly or spina bifida subtypes were also associated with exposure

165 embryonic genotype when evaluating putative spina bifida susceptibility loci.

166 ers than in those with spinal cord injury or spina bifida; this difference in morbidity is taken into

167 in birth defects, with severity ranging from spina bifida to lethal anencephaly.

168 nce that both variants influence the risk of spina bifida via the maternal rather than the embryonic

169 association between prepregnancy obesity and spina bifida was 1.48 (95% confidence interval: 1.26, 1.

170 The frequency of spina bifida was not altered in either backcross, emphas

171 s the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.

172 ods, 59 cases of anencephaly and 32 cases of spina bifida were detected.

173 hat has an isolated and completely penetrant spina bifida, which is folate- and inositol-resistant.

174 2-3% of Dvl2(-/-) embryos displayed thoracic spina bifida, while virtually all Dvl1/2 double mutant e

175 Failure of spinal closure in pre-spina bifida Zic2(Ku) mutant embryos is associated with