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Congenital Anomalies

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https://www.readbyqxmd.com/read/28901661/-d40-knl1-casc5-and-autosomal-recessive-primary-microcephaly
#1
REVIEW
Masato Takimoto
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disease with brain size reduction. More than a dozen loci encoding proteins of diverse function have been shown to be responsible for MCPH1-13. Mutations in the D40/KNL1/CASC5 gene, which was initially characterized as a gene involved in chromosomal translocation in leukemia and as a member of the cancer/testis gene family, was later found to encode a kinetochore protein essential for mitotic cell division and to cause MCPH4...
September 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28862359/a-novel-a178p-mutation-in-slc16a2-in-a-patient-with-allan-herndon-dudley-syndrome
#2
Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira
Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder related to thyroid transporter (monocarboxylate transporter 8: MCT8) deficiency (MIM #300523) (Allan et al. 1944). Mutations in the solute carrier family 16 member 2 (SLC16A2) gene, which encodes MCT8, are responsible for AHDS (Dumitrescu et al. 2004). Approximately, 100 different mutations have been identified. Here, we identified a novel SLC16A2 mutation in a patient with AHDS (Shimojima et al. 2016; Yamamoto et al. 2014).
September 1, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28815737/retroperitoneal-gastric-duplication-mimicking-a-prenatal-adrenal-cyst
#3
Aurora Lucía Castillo-Fernández, Fernando Vázquez-Rueda, Mª Dolores Cañete, Javier Caballero-Villarraso
Duplications of the gastric tract are made up of a wide variety of masses throughout the gastrointestinal tract. They may have tubular or cystic morphology. Some duplications are associated with malformations, especially those located in the thorax, which can be associated with intestinal atresia, and malformations of the urinary tract or vetebras (Lund. 2012).
August 16, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28796911/re-evaluation-of-lung-to-thorax-transverse-area-ratio-immediately-before-birth-in-predicting-postnatal-short-term-outcomes-of-fetuses-with-isolated-left-sided-congenital-diaphragmatic-hernia-a-single-center-analysis
#4
Saki Kido, Nobuhiro Hidaka, Yuka Sato, Yasuyuki Fujita, Kina Miyoshi, Kouji Nagata, Tomoaki Taguchi, Kiyoko Kato
We aimed to investigate whether the lung-to-thorax transverse area ratio (LTR) immediately before birth is of diagnostic value for the prediction of postnatal short-term outcomes in cases of isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed the cases of fetal isolated left-sided CDH managed at our institution between April 2008 and July 2016. We divided the patients into 2 groups based on LTR immediately before birth, using a cut-off value of 0.08. We compared the proportions of subjects within the 2 groups who survived until discharge using Fisher's exact test...
August 10, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28787104/coffin-siris-syndrome-and-cardiac-anomaly-with-a-novel-sox11-mutation
#5
Nobuhiko Okamoto, Eiji Ehara, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto
Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX11 mutation. He showed the CSS phenotype and coarctation of the aorta. Sox11 is known to be associated with cardiac outflow development in mouse studies...
August 8, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28782137/interkinetic-nuclear-migration-in-the-tracheal-and-esophageal-epithelia-of-the-mouse-embryo-possible-implications-for-tracheo-esophageal-anomalies
#6
Ryo Kaneda, Yuko Saeki, Dereje Getachew, Akihiro Matsumoto, Motohide Furuya, Noriko Ogawa, Tomoyuki Motoya, Ashiq Mahmood Rafiq, Esrat Jahan, Jun Udagawa, Ryuju Hashimoto, Hiroki Otani
Interkinetic nuclear migration (INM) is a cell polarity-based phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium in synchrony with the cell cycle. INM is suggested to be at least partially cytoskeleton-dependent and to regulate not only the proliferation/differentiation of stem/progenitor cells but also the localized/overall size and shape of organs/tissues. INM occurs in all three of the germ-layer derived epithelia, including the endoderm-derived gut...
August 6, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28745802/progressive-subglottic-stenosis-in-a-child-with-pallister-killian-syndrome
#7
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
#8
Khristopher M Nguyen, Snehal Vala, Sarah S Milla, Lokesh Guglani
No abstract text is available yet for this article.
July 25, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28708254/preconceptional-folic-acid-supplementation-in-japan
#9
Fumiki Hirahara, Haruka Hamanoue, Kentaro Kurasawa
No abstract text is available yet for this article.
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
#10
Sulman Basit, Essa Alharby, Alia M Albalawi, Khalid I Khoshhal
Developmental dysplasia of the hip (DDH) is one of the most prevalent developmental orthopedic 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 four 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
#11
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
#12
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
#13
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 evaluate 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/nutritional-role-of-folate
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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