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Congenital Anomalies

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https://www.readbyqxmd.com/read/28039919/hearing-impairment-in-a-female-infant-with-interstitial-deletion-of-2q24-1q24-3
#1
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
#2
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
#3
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
#4
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/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
#5
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
#6
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
#7
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/28079294/a-locus-on-chromosome-16-is-significantly-associated-with-increased-tendency-to-lose-pups-in-females-of-the-rr-sgn-inbred-mouse-strain
#8
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...
November 2, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27783871/foxc2-creert2-knock-in-mice-mark-stage-specific-foxc2-expressing-cells-during-mouse-organogenesis
#9
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
#10
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/28054403/announcement
#11
(no author information available yet)
No abstract text is available yet for this article.
January 2017: 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/27230627/a-16q12-2q21-deletion-identified-in-a-patient-with-developmental-delay-epilepsy-short-stature-and-distinctive-features
#15
Toshiyuki Yamamoto, Keiko Shimojima, Sawako Yamazaki, Kanju Ikeno, Jun Tohyama
Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and overlapping toes in his right foot. Although the deleted region includes the genes responsible for neurological impairments (GNOA1, GPR56, KATNB1, and BBS2), haploinsufficiency of these genes would not be associated with the patient's phenotype...
November 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27206652/syndromic-microphthalmia-3-caused-by-a-mutation-on-gene-sox2-in-a-colombian-male-patient
#16
Andrés Felipe Ramirez-Botero, Harry Pachajoa
Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling...
November 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27100043/prevalence-of-isomerism-from-a-european-registry-live-births-fetal-deaths-and-terminations-of-pregnancy
#17
Rohit S Loomba
No abstract text is available yet for this article.
November 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27711989/discordant-ventriculo-arterial-connections-or-transposition-are-not-necessarily-an-essential-part-of-isomerism
#18
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
#19
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
#20
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
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