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Congenital Anomalies

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https://www.readbyqxmd.com/read/28185308/medical-cost-savings-in-sakado-city-and-worldwide-achieved-by-preventing-disease-by-folic-acid-fortification
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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/28004416/changeability-of-the-fully-methylated-status-of-the-15q11-2-region-in-induced-pluripotent-stem-cells-derived-from-a-patient-with-prader-willi-syndrome
#8
Hironobu Okuno, Kazuhiko Nakabayashi, Kousei Abe, Takayuki Ando, Tsukasa Sanosaka, Jun Kohyama, Wado Akamatsu, Manabu Ohyama, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano
Prader-Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused by the dysfunction of the hypothalamus. Patients with PWS present with methylation abnormalities of the PWS-imprinting control region in chromosome 15q11.2, subject to parent-of-origin-specific methylation and controlling the parent-of-origin-specific expression of other paternally expressed genes flanking the region. In theory, the reversal of hypermethylation in the hypothalamic cells could be a promising strategy for the treatment of PWS patients, since cardinal symptoms of PWS patients are correlated with dysfunction of the hypothalamus...
December 21, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27957763/possible-genes-responsible-for-developmental-delay-observed-in-patients-with-rare-2q23q24-microdeletion-syndrome-literature-review-and-description-of-an-additional-patient
#9
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype-phenotype correlation study suggested GALNT13 and KCNJ3 as possible candidate genes for such phenotypes. We identified a new overlapping deletion in a patient with much severe developmental delay. The identified deletion extended toward the distal 2q24.1 region, and more severe phenotypes in the present patient were considered to be related to the additionally deleted genes including NR4A2 and GPD2...
December 13, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27933642/bilateral-choanal-atresia-in-an-adult-woman-with-pycnodysostosis
#10
Ceren Damla Durmaz, Vedat Taş, Pınar Kocaay, Omer Suat Fitöz, Hüseyin Onay, Süha Beton, Ferda Özkınay, Hatice Ilgın Ruhi
No abstract text is available yet for this article.
December 9, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27783871/foxc2-creert2-knock-in-mice-mark-stage-specific-foxc2-expressing-cells-during-mouse-organogenesis
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27341656/prenatal-diagnosis-of-fraser-syndrome-using-routine-ultrasound-examination-confirmed-by-exome-sequencing-report-of-a-novel-homozygous-missense-fras1-mutation
#14
LETTER
Jakub Kornacki, Anna Sowińska-Seidler, Magdalena Socha, Mariola Ropacka, Aleksander Jamsheer
No abstract text is available yet for this article.
January 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27280874/impact-of-the-introduction-of-non-invasive-prenatal-genetic-testing-on-invasive-tests-a-single-center-study-in-japan
#15
LETTER
Masaki Sekiguchi, Aiko Sasaki, Seiji Wada, Nobuaki Ozawa, Haruhiko Sago
No abstract text is available yet for this article.
January 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27270827/cartilage-hair-hypoplasia-associated-with-isolated-hypoganglionosis-a-case-report
#16
Yoshitomo Yasui, Miyuki Kohno, Syouichi Nishida, Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Sadayoshi Takahashi, Yo Niida
Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis...
January 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27254532/exome-sequencing-identifies-a-novel-nonsense-mutation-of-hoxd13-in-a-chinese-family-with-synpolydactyly
#17
Bo Wang, Niu Li, Juan Geng, Zhigang Wang, Qihua Fu, Jian Wang, Yunlan Xu
Synpolydactyly (SPD) is an autosomal dominant limb malformation with a distinctive combination of syndactyly and polydactyly. SPD is clinically heterogeneous and could be genetically classified into three types. The clinical phenotype of SPD is complicated by its variable expressivity. In the present study, whole exome sequencing (WES) was used to identify the affected gene(s) in a Chinese family with atypical SPD phenotype. Our results showed that a novel heterogenous nonsense mutation (c.556C > T, p...
January 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27878857/selective-serotonin-reuptake-inhibitors-and-risk-of-major-congenital-anomalies-for-pregnancies-in-japan-a-nationwide-birth-cohort-study-of-the-japan-environment-and-children-s-study
#18
Hidekazu Nishigori, Taku Obara, Toshie Nishigori, Satoshi Mizuno, Hirohito Metoki, Tetsuro Hoshiai, Zen Watanabe, Kasumi Sakurai, Mami Ishikuro, Nozomi Tatsuta, Ichiko Nishijima, Ikuma Fujiwara, Shinichi Kuriyama, Takahiro Arima, Kunihiko Nakai, Nobuo Yaegashi
We analyzed data from the Japan Environment and Children's Study (JECS), on the association between selective serotonin reuptake inhibitors (SSRI) use during pregnancy and the risk of developing of major congenital anomalies in Japan. JECS is an ongoing nationwide birth cohort study. The study includes 95,994 single pregnant women and their offspring. Among them172 used any SSRI up to the 12(th) gestational week. Crude analyses show a significantly increased incidence of upper limb, abdominal, and urogenital anomalies...
November 23, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27859649/patterns-and-risk-factors-of-birth-defects-in-rural-areas-of-south-eastern-gabon
#19
Landry-Erik Mombo, Leslie-Monica Yangawagou-Eyeghe, Patrick Mickala, Jean Moutélé, Thierno-Souleymane Bah, Damehan Tchelougou, Cyrille Bisseye
Within the context of high neonatal mortality in sub-Saharan Africa, a retrospective study was conducted on the prevalence of congenital malformations and the association between maternal risk factors and birth defects in rural populations of south-eastern Gabon. Two populations were studied: a group of 3,500 births recorded in rural area (Koula-Moutou) and a second group of 4,212 births in a semi-rural area (Franceville) in Gabon. Our data showed an increasing prevalence in congenital anomalies from rural to urban areas (p < 0...
November 16, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27859643/undernourishment-in-utero-and-hepatic-steatosis-in-later-life-a-potential-issue-in-japanese-people-a-review
#20
REVIEW
Hiroaki Itoh, Keiko Muramatsu-Kato, Urmi J Ferdous, Yukiko Kohmura-Kobayashi, Naohiro Kanayama
Non-alcoholic fatty liver disease (NAFLD) is a hepatic manifestation of metabolic syndrome. The prevalence of NAFLD in Japan has nearly doubled in the last 10-15 years. Increasing evidence supports undernourishment in utero being causatively connected with the risk of NAFLD in later life. Low body mass index (BMI) has been common among Japanese women of childbearing age for several decades due to their strong desire to be thin. It is plausible that insufficient maternal energy intake by pregnant Japanese women may underlie the rapid increase in the prevalence of NAFLD in Japan...
November 16, 2016: Congenital Anomalies
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