Congenital duodenal and multiple jejunal atresia with malrotation in a patient with Down syndrome
Congenital Anomalies,Volume 58, Issue 2, Page 71-72, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 4, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies,Volume 58, Issue 2, Page 71-72, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 4, 2017 Category: Genetics & Stem Cells Source Type: research
Announcement
(Source: Congenital Anomalies)
Source: Congenital Anomalies - July 2, 2017 Category: Genetics & Stem Cells Tags: Society News Source Type: research
Issue Information
Induced pluripotent stem cells derived from a Prader‐Willi syndrome (PWS) patient harboring a deletion on chromosome 15q11.2. The fully methylated chromosome 15q11.2 in PWS‐fibroblasts was successfully reversed to a partially unmethylated status in some PWS‐iPSC lines. Cell replacement‐based therapeutic strategy could be a promising strategy by the reversal of hypermethylation. Further details can be seen in the article by Okuno et al. in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 2, 2017 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
A novel A178P mutation in SLC16A2 in a patient with Allan ‐Herndon‐Dudley syndrome
Abstract
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). (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira Tags: Note Source Type: research
Retroperitoneal gastric duplication mimicking a prenatal adrenal cyst
Abstract
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). (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Aurora Luc ía Castillo‐Fernández, Fernando Vázquez‐Rueda, Mª Dolores Cañete, Javier Caballero‐Villarraso Tags: Note Source Type: research
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
Abstract
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. Fur...
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Saki Kido, Nobuhiro Hidaka, Yuka Sato, Yasuyuki Fujita, Kina Miyoshi, Kouji Nagata, Tomoaki Taguchi, Kiyoko Kato Tags: Original Article Source Type: research
Coffin ‐Siris syndrome and cardiac anomaly with a novel SOX11 mutation
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. Therefore cardiac anomalies might be a important complication in patients with SOX11 mutations. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Eiji Ehara, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto Tags: Case Report Source Type: research
Interkinetic nuclear migration in the tracheal and esophageal epithelia of the mouse embryo: Possible implications for tracheo ‐esophageal anomalies
Abstract
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. However, INM has not been documented in the esophagus and respiratory tube arising from the...
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: 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 Tags: Original Article Source Type: research
Progressive subglottic stenosis in a child with Pallister ‐Killian syndrome
ABSTRACT
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 ...
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo Tags: Case Report Source Type: research
Unilateral Lung Agenesis, Aplasia or Hypoplasia – which one is it?
We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Khristopher M Nguyen, Snehal Vala, Sarah Milla, Lokesh Guglani Tags: Note Source Type: research
Preconceptional folic acid supplementation in Japan
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. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Fumiki Hirahara, Haruka Hamanoue, Kentaro Kurasawa Tags: Commentary Source Type: research
Whole Genome SNP Genotyping in a Family Segregating Developmental Dysplasia of the Hip detected Runs of Homozygosity on Chromosomes 15q13.3 and 19p13.2
Abstract
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 f...
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Sulman Basit, Essa Alharby, Alia M. Albalawi, Khalid I. Khoshhal Tags: Original Article Source Type: research
Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: successful prenatal diagnosis and cesarean delivery
(Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Tomonobu Kanasugi, Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama Tags: Note Source Type: research
Congenital duodenal and multiple jejunal atresia with malrotation in a patient with Down syndrome
(Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Yoshitomo Yasui, Miyuki Kohno Tags: Note Source Type: research
