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Congenital Anomalies

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https://www.readbyqxmd.com/read/28745802/progressive-subglottic-stenosis-in-a-child-with-pallister-killian-syndrome
#1
Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo
Pallister-Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis...
July 26, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28742269/unilateral-lung-agenesis-aplasia-or-hypoplasia-which-one-is-it
#2
Khristopher M Nguyen, Snehal Vala, Sarah Milla, Lokesh Guglani
Congenital lung malformations can lead to symptoms in the immediate newborn period or early childhood, but may also be diagnosed incidentally on routine imaging or autopsy, especially if the individual has remained asymptomatic. We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis.
July 25, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28708254/preconceptional-folic-acid-supplementation-in-japan
#3
Fumiki Hirahara, Haruka Hamanoue, Kentaro Kurasawa
Since 2000, preconceptional folic acid supplementation has been recommended in Japan. In Japan, lack of active campaign and attitude of women for folic acid intake has retained behind situation as compared to western countries. In the present review, we traced past and present practice and discuss the issues surrounding folate intake both before and after conception.
July 14, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28693051/whole-genome-snp-genotyping-in-a-family-segregating-developmental-dysplasia-of-the-hip-detected-runs-of-homozygosity-on-chromosomes-15q13-3-and-19p13-2
#4
Sulman Basit, Essa Alharby, Alia M Albalawi, Khalid I Khoshhal
Developmental dysplasia of the hip (DDH) is one of the most prevalent developmental orthopaedic diseases worldwide. DDH is a spectrum of anatomical abnormalities of the hip joint and is characterized by premature arthritis in later life. Sporadic cases have been reported more frequently, however, some studies have reported families segregating DDH. Studies have suggested that the genetic factors play a significant role in the development of DDH. In order to detect genetic defect underlying DDH, we performed Sanger sequencing of all DDH associated genes, whole genome SNP genotyping and exome sequencing in a Saudi family with 4 individuals having DDH...
July 10, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28686315/pentalogy-of-cantrell-in-a-monozygotic-twin-with-a-giant-omphalocele-firmly-attached-to-the-amniotic-membrane-successful-prenatal-diagnosis-and-cesarean-delivery
#5
Tomonobu Kanasugi, Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama
No abstract text is available yet for this article.
July 7, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28677208/congenital-duodenal-and-multiple-jejunal-atresia-with-malrotation-in-a-patient-with-down-syndrome
#6
Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Yoshitomo Yasui, Miyuki Kohno
No abstract text is available yet for this article.
July 4, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28670735/six3-deletions-and-incomplete-penetrance-in-families-affected-by-holoprosencephaly
#7
Bethany Stokes, Seth I Berger, Beth A Hall, Karin Weiss, Donald W Hadley, David R Murdock, Subhadra Ramanathan, Robin D Clark, Erich Roessler, Paul Kruszka, Maximilian Muenke
Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluated families with inherited HPE. Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE. Using WES, we ruled out parental mosaicism, a SIX3 hypomorph, and clinically significant variants in genes that are known to interact with SIX3 as causes of incomplete penetrance...
July 2, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28603928/the-nutritional-role-of-folate
#8
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
#9
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
#10
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
#11
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/27933642/bilateral-choanal-atresia-in-an-adult-woman-with-pycnodysostosis
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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/28425126/novel-sequence-variants-in-the-liph-and-lpar6-genes-underlies-autosomal-recessive-woolly-hair-hypotrichosis-in-consanguineous-families
#18
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
#19
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
#20
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
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