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Congenital Anomalies

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https://www.readbyqxmd.com/read/28603928/the-nutritional-role-of-folate
#1
REVIEW
Shuhei Ebara
Folate functions as a coenzyme to transfer one-carbon units that are necessary for deoxythymidylate synthesis, purine synthesis, and various methylation reactions. Ingested folate becomes a functional molecule through intestinal absorption, circulation, transport to cells, and various modifications to its structure. Associations between nutritional folate status and chronic diseases such as cardiovascular disease, cancer, and cognitive dysfunction have been reported. It has also been reported that maternal folate nutritional status is related to the risk of neural tube defects (NTDs) in the offspring...
June 11, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28598562/genetic-polymorphisms-and-folate-status
#2
REVIEW
Mami Hiraoka, Yasuo Kagawa
Moderate hyperhomocysteinemia-induced low folate status is an independent risk factor for cardiovascular disease, dementia, and depression. Folate is an essential cofactor in the one-carbon metabolism pathway and is necessary in amino acid metabolism, purine and thymidylate synthesis, and DNA methylation. In the folate cycle and homocysteine metabolism, folate, vitamin B12, vitamin B6, and vitamin B2 are important cofactors. Many enzymes are involved in folate transport and uptake, the folate pathway, and homocysteine (Hcy) metabolism, and various polymorphisms have been documented in these enzymes...
June 9, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28493478/three-dimensional-models-of-the-segmented-human-fetal-brain-generated-by-magnetic-resonance-imaging
#3
Yutaka Yamaguchi, Reina Miyazaki, Mikako Kamatani, Chigako Uwabe, Haruyuki Makishima, Momoko Nagai, Motoki Katsube, Akira Yamamoto, Hirohiko Imai, Katsumi Kose, Kaori Togashi, Shigehito Yamada
Recent advances in imaging technology have enabled us to obtain more detailed images of the human fetus in a nondestructive and noninvasive manner. Through detailed images, elaborate three-dimensional (3D) models of the developing brain can be reconstructed. The segmentation of the developing brain has been determined by serial sections. Therefore, in this study, we attempted to develop a 3D model of the fetal brain using magnetic resonance image (MRI). MR images from 19 specimens (11 embryonic specimens and eight fetal specimens from 5...
May 11, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28464341/effects-of-environmental-enrichment-on-the-activity-of-the-amygdala-in-micrencephalic-rats-exposed-to-a-novel-open-field
#4
Wakoto Matsuda, Ayuka Ehara, Kazuhiko Nakadate, Kanji Yoshimoto, Shuichi Ueda
Environmental enrichment (EE) mediates recovery from sensory, motor, and cognitive deficits and emotional abnormalities. In the present study, we examined the effects of EE on locomotor activity and neuronal activity in the amygdala in control and methylazoxymethanol acetate (MAM)-induced micrencephalic rats after challenge in a novel open field. Control rats housed in EE (CR) showed reduced locomotor activity compared to rats housed in a conventional cage (CC), whereas hyperactivity was seen in MAM rats housed in a conventional cage (MC) and in MAM rats housed in EE (MR)...
May 2, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28425126/novel-sequence-variants-in-the-liph-and-lpar6-genes-underlies-autosomal-recessive-woolly-hair-hypotrichosis-in-consanguineous-families
#5
Farooq Ahmad, Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad
Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28425110/neural-tube-defects-risk-factors-and-preventive-measures
#6
REVIEW
Atsuo Kondo, Takuya Matsuo, Nobuhito Morota, Atsuya S Kondo, Ikuyo Okai, Hiromi Fukuda
For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, which has resulted in a significant reduction in the prevalence of neural tube defects. In 2000, the Japanese government recommended folic acid 400 µg daily for young women of childbearing age and women who are planning to conceive...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28419563/whole-exome-sequencing-identified-a-novel-single-base-pair-insertion-mutation-in-the-eys-gene-in-a-six-generation-family-with-retinitis-pigmentosa
#7
Jamil Amjad Hashmi, Maan Abdullah Albarry, Ahmed Almatrafi, Alia M Albalawi, Amir Mehmood, Sulman Basit
Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals...
April 16, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28378426/a-prospective-study-on-fetal-posterior-cranial-fossa-assessment-for-early-detection-of-open-spina-bifida-at-11-13%C3%A2-weeks
#8
Semir Kose, Sabahattin Altunyurt, Pembe Keskinoglu
The objective of this study was to test three measurements: brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark: cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment...
April 5, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28378377/survey-on-awareness-of-folic-acid-recognition-and-intake-by-female-students
#9
REVIEW
Takuya Matsuo, Yukiko Kagohashi, Yasuko Senga, Hiromi Fukuda, Keiko Shinozaki, Kumiko Takemori, Hiroki Otani, Atsuo Kondo
To reduce the risk of neural tube defects, studies have been conducted on female students of medical services, nutritional science, and nursery education that investigated the awareness of folic acid by using questionnaires. Many investigators have suggested the need to provide detailed information about the awareness of folic acid and knowledge about folic acid intake and neural tube defect risk reduction. The dietary habits of female students showed a positive correlation with their estimated folic acid intake, suggesting that improvements in dietary habits are associated with the consumption of folic acid...
April 5, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28378413/a-10q21-3q22-2-microdeletion-identified-in-a-patient-with-severe-developmental-delay-and-multiple-congenital-anomalies-including-congenital-heart-defects
#10
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4-Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. Because there is no gene which shows one-to-one relation to clinical features observed in this patient, combinatory deletion of the genes in this region would be causative of the clinical features in this patient...
April 4, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27933642/bilateral-choanal-atresia-in-an-adult-woman-with-pycnodysostosis
#11
Ceren Damla Durmaz, Vedat Taş, Pınar Kocaay, Ömer Suat Fitöz, Hüseyin Onay, Süha Beton, Ferda Özkınay, Hatice Ilgın Ruhi
No abstract text is available yet for this article.
May 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
#12
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 them, 172 used any SSRI up to the 12(th) gestational week. Crude analyses show a significantly increased incidence of upper limb, abdominal, and urogenital abnormalities...
May 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27859649/patterns-and-risk-factors-of-birth-defects-in-rural-areas-of-south-eastern-gabon
#13
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 3500 births recorded in rural area (Koula-Moutou) and a second group of 4212 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...
May 2017: 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
#14
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...
May 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27624506/variable-presentation-of-fraser-syndrome-in-two-fetuses-and-a-novel-mutation-in-fras1
#15
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 the presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.
May 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27436047/remnant-cartilage-in-the-middle-ear
#16
Jeon Mi Lee, Sung Huhn Kim, Jae Young Choi
No abstract text is available yet for this article.
May 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28338248/surgical-strategy-for-apert-syndrome-retrospective-study-of-developmental-quotient-and-three-dimensional-computerized-tomography
#17
Shoichi Tomita, Takeshi Miyawaki, Yuichirou Nonaka, Shinsuke Sakai, Reiji Nishimura
There are many surgical techniques for craniosynostosis. However, the indications for and timing of surgery still remain unclarified. Most of the skull growth in craniosynostosis is completed in the first year, and the bone is strong enough to undergo distraction osteogenesis. However, previous reports showed that patients operated on before 1 year of age had better IQ than those operated later in life. This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome...
March 24, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28321935/novel-fbn1-mutation-in-a-family-with-inherited-marfan-syndrome-p-cys2672arg
#18
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
#19
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/28266124/proposal-for-supplemental-intake-of-folic-acid-to-reduce-the-risk-of-neural-tube-defects
#20
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Congenital Anomalies
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