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Congenital Anomalies

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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
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/27783871/foxc2-creert2-knock-in-mice-mark-stage-specific-foxc2-expressing-cells-during-mouse-organogenesis
#4
Mohammed Badrul Amin, Naoyuki Miura, Mohammad Khaja Mafij Uddin, Mohammod Johirul Islam, Nobuaki Yoshida, Sachiko Iseki, Tsutomu Kume, Paul 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...
October 26, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27783870/mri-based-correlation-analysis-between-calcarine-sulcus-development-and-isolated-fetal-ventriculomegaly
#5
Hehong Li, Huiying Liang, Huiying Wu
The 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)...
October 26, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27711989/discordant-ventriculo-arterial-connections-or-transposition-are-not-necessarily-an-essential-part-of-isomerism
#6
Rohit S Loomba, Robert H Anderson
No abstract text is available yet for this article.
October 6, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27696664/a-say-barber-biesecker-young-simpson-variant-of-ohdo-syndrome-with-a-kat6b-10-base-pair-palindromic-duplication-a-recurrent-mutation-causing-a-severe-phenotype-mixed-with-genitopatellar-syndrome
#7
Yo Niida, Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, Akiko Kato
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. Genotype-phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS...
October 3, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27649480/late-presenting-congenital-diaphragmatic-hernia-in-a-child-with-tmem70-deficiency
#8
Adrijan Sarajlija, Martin Magner, Maja Djordjevic, Bozica Kecman, Blagoje Grujic, Marketa Tesarova, Predrag Minic
No abstract text is available yet for this article.
September 20, 2016: 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
#9
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 which 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 revelaed 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...
September 20, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27634006/the-56th-annual-meeting-of-the-japanese-teratology-society-new-developments-and-future-perspectives-of-teratology-study-translational-study-to-link-teratology-to-nutrition-overview
#10
https://www.readbyqxmd.com/read/27624506/variable-presentation-of-fraser-syndrome-in-two-fetuses-and-a-novel-mutation-in-fras1
#11
Shalini S Nayak, Smrithi Salian, Anju Shukla, Mary Mathew, Katta M Girisha
We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A > T in FRAS1. We would like to highlight variable manifestations of Fraser syndrome and presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.
September 14, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27859696/reviewers
#12
(no author information available yet)
No abstract text is available yet for this article.
November 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27859695/announcement
#13
(no author information available yet)
No abstract text is available yet for this article.
November 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27859694/abstracts
#14
(no author information available yet)
No abstract text is available yet for this article.
November 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27580948/prevalence-of-congenital-limb-defects-data-from-birth-defects-registries-in-three-provinces-in-southern-thailand
#15
Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun
This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27329052/mechanism-responsible-for-d-transposition-of-the-great-arteries-is-this-part-of-the-spectrum-of-right-isomerism
#16
REVIEW
Yuji Nakajima
D-transposition of the great arteries (TGA) is one of the most common conotruncal heart defects at birth and is characterized by a discordant ventriculoarterial connection with a concordant atrioventricular connection. The morphological etiology of TGA is an inverted or arrested rotation of the heart outflow tract (OFT, conotruncus), by which the aorta is transposed in the right ventral direction to the pulmonary trunk. The rotational defect of the OFT is thought to be attributed to hypoplasia of the subpulmonic conus, which originates from the left anterior heart field (AHF) residing in the mesodermal core of the first and second pharyngeal arches...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27092811/high-le-fort-i-osteotomy-for-correction-of-mid-face-deformity-in-crouzon-syndrome
#17
Yasumichi Nakajima, Hiroyuki Nakano, Tomoki Sumida, Tomohiro Yamada, Kazuya Inoue, Goro Sugiyama, Katsuaki Mishima, Yoshihide Mori
An 18-year-old woman with mild Crouzon syndrome was referred with malocclusion and mandibular protrusion. Examination revealed Class III canine and molar relationships, hypoplastic maxilla, 1-mm overbite, and -2-mm overjet. Analysis showed 69° sella-nasion-A, 73.6° sella-nasion-B, and -4.6° A point-nasion-B point angles. Polysomnography revealed respiratory disturbance and 6.3% oxygen desaturation indices of 5.4/h and 9.0/h. We performed double-jaw surgery using high Le Fort I osteotomy and bilateral sagittal split ramus osteotomy for midfacial deformity correction...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27061706/vesico-amniotic-shunting-for-lower-urinary-tract-obstruction-in-a-fetus-with-vacterl-association
#18
Tomonobu Kanasugi, Akihiko Kikuchi, Gen Haba, Yuri Sasaki, Chizuko Isurugi, Rie Oyama, Toru Sugiyama
Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27037515/formation-of-the-circle-of-willis-during-human-embryonic-development
#19
Tetsuya Takakuwa, Teppei Koike, Taiga Muranaka, Chigako Uwabe, Shigehito Yamada
The circle of Willis (CW) is a circulatory anastomosis that supplies blood to the brain and adjacent structures. We examined the timing of formation of CW in 20 Japanese human embryo samples by using 3-dimensional reconstruction of serial histological sections. The CW was closed in 1 (n = 6), 2 (n = 8), 2 (n = 3) and 2 (n = 3) samples at Carnegie stages 20, 21, 22, and 23, respectively. The CW was unclosed in 13 samples (unclosed at ACOM alone, 6 samples; ACOM and bilateral P1, 4; left PCOM and right P1, 1; right PCOM and right P1, 1; ACOM and left PCOM, 1)...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/26953323/clinical-study-of-459-polydactyly-cases-in-china-2010-to-2014
#20
Ying Xiang, Jingxia Bian, Zhigang Wang, Yunlan Xu, Qihua Fu
Polydactyly is one of the most common hereditary limb malformations, involving additional digits on the hands and/or feet, which is a very attractive model to appreciate clinical and genetic heterogeneity. A high level of heterogeneity in polydactyly has been identified in different regions. However, such data of the medical literatures for Asian populations are relatively limited. This study was intended to shed light on the phenotypic manifestations of polydactyly in the recruited Chinese population and to characterize the medical literature on this condition...
September 2016: Congenital Anomalies
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