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Congenital Anomalies

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https://www.readbyqxmd.com/read/28321935/a-novel-fbn1-mutation-in-a-family-with-inherited-marfan-syndrome-p-cys2672arg
#1
Arda Cetinkaya, Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz
No abstract text is available yet for this article.
March 20, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28295633/neural-tube-closure-and-embryonic-metabolism
#2
REVIEW
Yoshifumi Yamaguchi, Hidenobu Miyazawa, Masayuki Miura
Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients...
March 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28244241/folate-receptors-and-neural-tube-closure
#3
REVIEW
Hirotomo Saitsu
Neural tube defects (NTD) are among the most common human congenital malformations, affecting 0.5-8/1000 of live births. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in offspring. However, the mechanism by which folate acts on NTD remains largely unknown. Folate receptor (Folr) is one of the three membrane proteins that mediate cellular uptake of folates. Recent studies suggest that mouse Folr1 (formerly referred to as Fbp1) is essential for neural tube closure...
February 28, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28220546/novel-splice-site-mutation-in-eif2ak3-gene-causes-wolcott-rallison-syndrome-in-a-consanguineous-family-from-saudi-arabia
#4
Jumana Yousuf Al-Aama, Hams Saeed Al-Zahrani, Musharraf Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi, Saleem Ahmed
No abstract text is available yet for this article.
February 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28220539/a-contiguous-gene-deletion-neighboring-twist1-identified-in-a-patient-with-saethre-chotzen-syndrome-associated-with-neurodevelopmental-delay-possible-contribution-of-hdac9
#5
Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa
Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities. Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. Here, we report a 15-month-old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9-Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included...
February 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28185308/medical-cost-savings-in-sakado-city-and-worldwide-achieved-by-preventing-disease-by-folic-acid-fortification
#6
REVIEW
Yasuo Kagawa, Mami Hiraoka, Mitsuyo Kageyama, Yoshiko Kontai, Mayumi Yurimoto, Chiharu Nishijima, Kaori Sakamoto
The introduction of mandatory fortification of grains with folate in 1998 in the United States resulted in 767 fewer spina bifida cases annually and a cost savings of $603 million per year. However, far more significant medical cost savings result from preventing common diseases, including myocardial infarction, stroke, dementia and osteoporosis. A cost-effectiveness analysis showed a gain of 266,649 quality-adjusted life-years and $3.6 billion saved annually, mainly due to the reduction of cardiac infarction...
February 9, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28169463/relationship-between-epigenetic-regulation-dietary-habits-and-the-developmental-origins-of-health-and-disease-theory
#7
REVIEW
Kazuki Mochizuki, Natsuyo Hariya, Kazue Honma, Toshinao Goda
Environmental stressors during developmental stages are hypothesized to increase the risk of developing metabolic diseases such as obesity, type 2 diabetes, hypertension, and psychiatric diseases during later life. This theory is known as the Developmental Origins of Health and Disease (DOHaD). Recent studies suggest that accumulation of environmental stress, including during developmental stages, is internalized as acquired information designated as "epigenetic memory." This epigenetic memory is generally indicated as DNA methylation and histone modifications in the chromatin...
February 7, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28164378/a-patient-with-a-novel-purine-rich-element-binding-protein-a-pura-mutation
#8
Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki
There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing...
February 6, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28145600/neurological-manifestations-of-2q31-microdeletion-syndrome
#9
Nobuhiko Okamoto, Sadami Kimura, Keiko Shimojima, Toshiyuki Yamamoto
Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster and some neighboring genes including the ZNF385B. The patient showed digital anomalies, growth failure, epileptic seizures, and intellectual disability...
February 1, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28109019/regional-difference-in-sulcal-infolding-progression-correlated-with-cerebral-cortical-expansion-in-cynomolgus-monkey-fetuses
#10
Kazuhiko Sawada, Katsuhiro Fukunishi, Masatoshi Kashima, Noritaka Imai, Shigeyoshi Saito, Ichio Aoki, Yoshihiro Fukui
The present study aimed to specify the cerebral sulci developed by cortical expansion in cynomolgus monkey fetuses. The degree of sulcal infolding was evaluated by the gyrification index (GI), which was quantified using ex vivo MRI. The correlation of cortical volume with the sulcal GI was most frequent during embryonic days (EDs) 100 to 120. Interestingly, the high correlation was marked during EDs 140 to 150 in restricted primary sulci in prefrontal, parietotemporal and medial temporal regions. The present results suggest that cortical expansion is involved in gyral demarcation by sulcal infolding, followed by the sulcal infolding progression in phylogenetically-newer cortices...
January 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28109020/co-occurrence-of-bronch%C3%A4-al-atres%C3%A4-a-and-intrapulmonary-sequestration-in-divergent-lobes
#11
Nilgün Kanlıoglu Kuman, Serdar Şen
No abstract text is available yet for this article.
January 20, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28039919/hearing-impairment-in-a-female-infant-with-interstitial-deletion-of-2q24-1q24-3
#12
Hiroaki Ono, Kenji Kurosawa, Nobuaki Wakamatsu, Shin Masuda
Patients with interstitial deletions in 2q24.1q24.3 are rarely reported. These patients manifest a variety of clinical features in addition to intellectual disability, depending on the size and location of the deletion. We report a female patient with interstitial deletion of 5.5 Mb in 2q24.1q24.3, who showed intrauterine growth retardation, hypotonia, global developmental delay, microcephaly, and characteristic facial appearance. In addition, she had hearing impairment, with no auditory brainstem response...
December 30, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/28266124/proposal-for-supplemental-intake-of-folic-acid-to-reduce-the-risk-of-neural-tube-defects
#13
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28079294/locus-on-chromosome-16-is-significantly-associated-with-increased-tendency-to-lose-pups-in-females-of-the-rr-sgn-inbred-mouse-strain
#14
Jun-Ichi Suto
Females of the inbred mouse strain RR/Sgn have an apparent tendency to lose pups during rearing. To identify genes underlying this abnormal maternal phenotype, we performed quantitative trait loci (QTL) mapping in 349 (C57BL/6 J × RR/Sgn) F1  × RR/Sgn backcross mice and identified one significant and one suggestive QTL on chromosomes 16 and 4, respectively. We assigned the gene symbol nurturing ability QTL 3 (Naq3) to the QTL on chromosome 16. Twenty of the 21 mothers who lost entire litters were homozygous for RR/Sgn allele at Naq3; i...
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27783870/magnetic-resonance-imaging-based-correlation-analysis-between-calcarine-sulcus-development-and-isolated-fetal-ventriculomegaly
#15
Hehong Li, Huiying Liang, Huiying Wu
Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricles, to assess if calcarine sulcus can also be used for fetal ventriculomegaly diagnosis. We conducted a retrospective analysis of the magnetic resonance imaging (MRI) data from 45 subjects with isolated mild fetal ventriculomegaly (IMVM)...
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27644460/miller-dieker-syndrome-with-unbalanced-translocation-45-x-psu-dic-17-y-p13-p11-32-detected-by-fluorescence-in-situ-hybridization-and-g-banding-analysis-using-high-resolution-banding-technique
#16
Takashi Mishima, Michiko Watari, Yutaka Iwaki, Takumi Nagai, Miho Kawamata-Nakamura, Yukako Kobayashi, Satoko Fujieda, Mamoru Oikawa, Nobuhiro Takahashi, Mitsuaki Keira, Hiroshi Yoshida, Hidefumi Tonoki
Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker Syndrome postnatally. G banded chromosome analysis revealed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique...
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27577507/novel-homozygous-sequence-variants-in-the-gdf5-gene-underlie-acromesomelic-dysplasia-type-grebe-in-consanguineous-families
#17
Muhammad Umair, Afzal Rafique, Asmat Ullah, Farooq Ahmad, Raja Hussain Ali, Abdul Nasir, Muhammad Ansar, Wasim Ahmad
Acromesomelic dysplasia Grebe type (AMDG) is characterized by severe knob like non-functional fingers and short acromesomelic limbs, and is inherited in an autosomal recessive manner. Disease causing sequence variants in the GDF5 (Growth Differentiation Factor 5) gene located on chromosome 20q11.22 are responsible for causing AMDG. In the study, presented here, two consanguineous families with AMDG were clinically and genetically characterized. After establishing linkage in the two families (A and B) to GDF5 gene on chromosome 20q11...
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27783871/foxc2-creert2-knock-in-mice-mark-stage-specific-foxc2-expressing-cells-during-mouse-organogenesis
#18
Mohammed Badrul Amin, Naoyuki Miura, Mohammad Khaja Mafij Uddin, Mohammod Johirul Islam, Nobuaki Yoshida, Sachiko Iseki, Tsutomu Kume, Paul A Trainor, Hirotomo Saitsu, Kazushi Aoto
Foxc2, a member of the winged helix transcription factor family, is essential for eye, calvarial bone, cardiovascular and kidney development in mice. Nevertheless, how Foxc2-expressing cells and their descendent cells contribute to the development of these tissues and organs has not been elucidated. Here, we generated a Foxc2 knock-in (Foxc2(CreERT2) ) mouse, in which administration of estrogen receptor antagonist tamoxifen induces nuclear translocation of Cre recombinase in Foxc2-expressing cells. By crossing with ROSA-LacZ reporter mice (Foxc2(CreERT2) ; R26R), the fate of Foxc2 positive (Foxc2(+) ) cells was analyzed through LacZ staining at various embryonic stages...
January 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27534905/evaluation-of-the-maxillofacial-morphological-characteristics-of-apert-syndrome-infants
#19
Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto-Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, five Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study...
January 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27500567/dynamics-of-gyrification-in-the-human-cerebral-cortex-during-development
#20
Ririko Yoshida, Koichi Ishizu, Shigehito Yamada, Chigako Uwabe, Tomohisa Okada, Kaori Togashi, Tetsuya Takakuwa
This study quantitatively characterized cortical gyrus folding over human neocortical development by calculating the gyrification index (GI) in 22 human fetal specimens from 16 to 40 weeks with magnetic resonance imaging data. GI values remained constant at approximately 1.0 until the fetal specimens reached 500 g body weight and 200 mm crown-rump length (CRL), respectively, and then increased in correlation with the body weight and CRL. The rostrocaudal GI distribution in the cerebral cortex revealed a correspondence of GI peaks with indentations of early-generated primary sulci at 21 weeks of gestation and more frequently increased GI values in the parieto-occipital region than in the fronto-temporal region at 31 and 40 weeks of gestation...
January 2017: Congenital Anomalies
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