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Congenital Anomalies

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https://www.readbyqxmd.com/read/30225942/ring-chromosome-6-in-a-child-with-anterior-segment-dysgenesis-and-review-of-its-overlap-with-other-foxc1-deletion-phenotypes
#1
Jorge Román Corona-Rivera, Alfredo Corona-Rivera, Luz Consuelo Zepeda-Romero, Izabel Maryalexandra Rios-Flores, Jehú Rivera-Vargas, Mireya Orozco-Vela, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Manuela Pinto-Cardoso, Dezső David, Lucina Bobadilla-Morales
Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1,880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1...
September 18, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30132994/prenatal-sonographic-findings-and-prognosis-of-craniosynostosis-diagnosed-during-the-fetal-and-neonatal-periods
#2
Aya Harada, Susumu Miyashita, Ryuhei Nagai, Shintaro Makino, Jun Murotsuki
The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Of 41 cases, 30 cases (73%) were syndromic craniosynostosis, eight cases (20%) were non-syndromic craniosynostosis and the other three cases (7%) were secondary craniosynostosis of chromosomal deletion syndromes. The prenatal ultrasound detection rate was 61%...
August 22, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30084506/historical-control-data-on-developmental-toxicity-studies-in-rats
#3
Makiko Kuwagata, Yuko Sakai, Sho Tanaka, Hiromasa Takashima, Ryuichi Katagiri, Toshiki Matsuoka, Kenichi Noritake, Mika Senuma, Tatsuya Shimizu, Hitoshi Hojo, Kanata Ibi, Satoshi Kudo, Takafumi Oota, Masayuki Ube, Yoji Miwa, Shimpei Kajita, Tohru Uesugi, Kaoru Yabe, Taishi Tateishi, Nao Nakano, Terumasa Taniguchi, Akihito Yamashita, Takayuki Hirano, Yuka Kirihata, Yumi Sakai, Shino Nishizawa, Michio Fujiwara, Hiroshi Mineshima, Masao Horimoto, Makoto Ema
Historical control data from prenatal developmental toxicity studies in rats have been used to evaluate whether toxicology outcomes were induced by exposure to a chemical or were within the range of spontaneous variation. These data are also important for monitoring animal characteristics. As a follow-up to historical control data from 1998 to 2010, this study analyzed control data from prenatal developmental studies performed in rats from 2011 to 2015. Data were collected from studies performed by 24 Japanese laboratories, including 15 pharmaceutical and chemical companies and nine contract research organizations, in Sprague-Dawley and two-sub-strains of Wistar Hannover rats...
August 7, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30079503/sequence-variants-in-the-edar-gene-causing-hypohidrotic-ectodermal-dysplasia
#4
Farooq Ahmad, Tanveer Ahmad, Muhammad Umair, Abdullah, Wasim Ahmad
No abstract text is available yet for this article.
August 5, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30073714/early-prenatal-detection-of-bardet-biedl-syndrome-in-a-case-with-postaxial-polydactyly-and-hyperechoic-kidneys-confirmed-by-next-generation-sequencing
#5
Qiao-Yi Li, Lv-Ying Huang, Dong-Zhi Li
No abstract text is available yet for this article.
August 3, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30039880/congenital-eye-anomalies-more-mosaic-than-thought
#6
REVIEW
Hideyo Ohuchi, Keita Sato, Munenori Habuta, Hirofumi Fujita, Tetsuya Bando
The eye is a sensory organ that primarily captures light and provides the sense of sight, as well as delivering non-visual light information involving biological rhythms and neurophysiological activities to the brain. Since the early 1990s, rapid advances in molecular biology have enabled the identification of developmental genes, genes responsible for human congenital diseases, and relevant genes of mutant animals with various anomalies. In this review, we first look at the development of the eye, and we highlight seminal reports regarding archetypal gene defects underlying three developmental ocular disorders in humans: (1) holoprosencephaly (HPE), with cyclopia being exhibited in the most severe cases; (2) microphthalmia, anophthalmia, and coloboma (MAC) phenotypes; and (3) anterior segment dysgenesis (ASDG), known as Peters anomaly and its related disorders...
July 24, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29405484/report-of-four-novel-variants-in-asns-causing-asparagine-synthetase-deficiency-and-review-of-literature
#7
Chelna Galada, Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322592/predicting-the-intrauterine-fetal-death-of-fetuses-with-cystic-hygroma-in-early-pregnancy
#8
Mai Shimura, Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami
We investigated whether it was possible to predict the prognosis of fetuses with cystic hygroma in early pregnancy based on the degree of neck thickening. We retrospectively analyzed 57 singleton pregnancies with fetuses with cystic hygroma who were examined before the 22nd week of pregnancy. The fetuses were categorized according to the outcome, structural abnormalities at birth, and chromosomal abnormalities. Here, we proposed a new sonographic predictor with which we assessed neck thickening by dividing the width of the neck thickening by the biparietal diameter, which is expressed as the cystic hygroma width/biparietal diameter ratio...
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322562/pure-21q22-3-deletion-identified-in-a-patient-with-mild-phenotypic-features
#9
Ilária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa-Mendes, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322554/transcription-factor-foxc1-is-involved-in-anterior-part-of-cranial-base-formation
#10
Nandar Mya, Toshiko Furutera, Shigeru Okuhara, Tsutomu Kume, Masaki Takechi, Sachiko Iseki
The cranial base is a structure mainly formed through endochondral ossification and integrated into the craniofacial complex, which acts as an underlying platform for the developing brain. Foxc1 is an indispensable regulator during intramembranous and endochondral ossification. In this study, we found that the spontaneous loss of Foxc1 function in a mouse (congenital hydrocephalous), Foxc1ch/ch , demonstrated the anterior cranial base defects, including unossified presphenoid and lack of middle part of the basisphenoid bone...
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29292840/novel-missense-mutation-of-l1cam-in-a-fetus-with-isolated-hydrocephalus
#11
Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#12
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29232001/novel-sequence-variants-in-the-mkks-gene-cause-bardet-biedl-syndrome-with-intra-and-inter-familial-variable-phenotypes
#13
Asmat Ullah, Maryam Khalid, Muhammad Umair, Sher Alam Khan, Muhammad Bilal, Saadullah Khan, Wasim Ahmad
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29105173/blechschmidt-collection-revisiting-specimens-from-a-historical-collection-of-serially-sectioned-human-embryos-and-fetuses-using-modern-imaging-techniques
#14
Reina Miyazaki, Haruyuki Makishima, Jörg Männer, Hans-Georg Sydow, Chigako Uwabe, Tetsuya Takakuwa, Christoph Viebahn, Shigehito Yamada
Along with the Carnegie Collection in the United States and the Kyoto Collection in Japan, the Blechschmidt Collection (Georg-August-University of Göttingen, Germany) is a major historical human embryo and fetus collection. These collections are of enormous value to human embryology; however, due to the nature of the historical histological specimens, some stains are fading in color, and some glass slides are deteriorating over time. To protect these specimens against such degradation and ensure their future usefulness, we tried to apply modern image scanning and computational reconstruction...
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29802726/association-between-a-common-missense-variant-in-loxl3-gene-and-the-risk-of-non-syndromic-cleft-palate
#15
Mohammad Faisal J Khan, Julian Little, Peter A Mossey, Régine P M Steegers-Theunissen, Martina Bonsi, Rita Bassi Andreasi, Michele Rubini
To investigate possible association between functional common variants in the lysyl oxidase like 3 gene and non-syndromic cleft palate we selected a common missense variant p.Ile615Phe (rs17010021), which was predicted to have a probably damaging effect on the lysyl oxidase like 3 enzyme. We genotyped 258 non-syndromic cleft palate case-parent triads of European origin and tested genetic association using the transmission disequilibrium test and log-linear regression analyses of genotypic relative risks and of parent-of-origin effects...
July 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29457660/prevalence-of-orofacial-clefts-and-risks-for-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-newborns-at-a-university-hospital-from-west-mexico
#16
Jorge Román Corona-Rivera, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Sandra Olvera-Molina, Miriam A Orozco-Martín, Diana García-Cruz, Izabel M Ríos-Flores, Brian Gabriel Gómez-Rodríguez, Gemma Rivas-Soto, J Jesús Pérez-Molina
We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls)...
July 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29356097/association-of-single-nucleotide-polymorphisms-in-wnt-genes-with-the-risk-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#17
Houshang Rafighdoost, Mohammad Hashemi, Hossein Asadi, Gholamreza Bahari
Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c...
July 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29232008/international-volunteer-surgical-project-for-cleft-lip-cleft-palate-in-laos
#18
LETTER
Beuy Joob, Viroj Wiwanitkit
No abstract text is available yet for this article.
July 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29030958/association-of-meox2-polymorphism-with-nonsyndromic-cleft-palate-only-in-a-vietnamese-population
#19
Duy L Tran, Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Maya Ono, Chisato Sakuma, Shinichi Nakahara, Tham T H Nguyen, Phuong T Pham, Viet Hoang, Van T T Tran, Minh D Nguyen, Nagato Natsume
To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively...
July 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28990699/novel-amer1-frameshift-mutation-in-a-girl-with-osteopathia-striata-with-cranial-sclerosis
#20
Yumi Enomoto, Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa
No abstract text is available yet for this article.
July 2018: Congenital Anomalies
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