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Congenital Anomalies

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https://www.readbyqxmd.com/read/29105173/the-blechschmidt-collection-revisiting-specimens-from-a-historical-collection-of-serially-sectioned-human-embryos-and-fetuses-using-modern-imaging-techniques
#1
Reina Miyazaki, Haruyuki Makishima, Jörg Männer, Hans-Georg Sydow, Chigako Uwabe, Tetsuya Takakuwa, Christoph Viebahn, Shigehito Yamada
Along with the Carnegie Collection in the United States and the Kyoto Collection in Japan, the Blechschmidt Collection (Georg-August-University of Göttingen, Germany) is a major historical human embryo and fetus collection. These collections are of enormous value to human embryology; however, due to the nature of the historical histological specimens, some stains are fading in color, and some glass slides are deteriorating over time. To protect these specimens against such degradation and ensure their future usefulness, we tried to apply modern image scanning and computational reconstruction...
November 3, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29030958/association-of-meox2-polymorphism-with-nonsyndromic-cleft-palate-only-in-a-vietnamese-population
#2
Duy Le Tran, Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Maya Ono, Chisato Sakuma, Shinichi Nakahara, Tham Thi Hong Nguyen, Phuong Thi Pham, Viet Hoang, Van Thi Tuyet Tran, Minh Duc Nguyen, Nagato Natsume
To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province respectively...
October 14, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28990699/novel-amer1-frameshift-mutation-in-a-girl-with-osteopathia-striata-with-cranial-sclerosis
#3
Yumi Enomoto, Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa
No abstract text is available yet for this article.
October 9, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28976018/extracranial-outflow-of-particles-solved-in-cerebrospinal-fluid-fluorescein-injection-study
#4
Takuya Akai, Toshihisa Hatta, Hiroki Shimada, Keiji Mizuki, Nae Kudo, Taizo Hatta, Hiroki Otani
Cerebrospinal fluid is thought to be mainly absorbed into arachnoid granules in the subarachnoid space and drained into the sagittal sinus. However, some observations such as late outbreak of arachnoid granules in fetus brain and recent cerebrospinal fluid movements study by magnetic resonance images, conflict with this hypothesis. In this study, we investigated the movement of cerebrospinal fluid in fetuses. Several kinds of fluorescent probes with different molecular weights were injected into the lateral ventricle or subarachnoid space in mouse fetuses at a gestational age of 13 days...
October 4, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28949405/outcomes-of-an-international-volunteer-surgical-project-for-patients-with-cleft-lip-and-or-cleft-palate-a-mission-in-developing-laos
#5
Takahiro Goto, Kazuhide Nishihara, Keiichi Kataoka, Shinpei Goto, Tessho Maruyama, Hajime Sunakawa, Nagato Natsume, Akira Arasaki
Cleft lip and/or palate (CL/P) is a common birth defect of complex etiology. CL/P surgery is generally performed in infancy to allow for improvements in esthetics, suckling, and speech disorders as quickly as possible. We have engaged in activities such as free-of-charge surgery for CL/P a total of 12 times from 2001 to 2016 in Lao People's Democratic Republic (Laos). The United Nations has designated Laos as a Least Developed Country; it is one of the poorest countries in Asia. We have carried out our activities for a long time, primarily in CL/P patients who cannot undergo surgery for financial reasons, and we have performed CL/P-related surgeries for 283 patients up to 2016...
September 26, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28901661/d40-knl1-casc5-and-autosomal-recessive-primary-microcephaly
#6
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/novel-a178p-mutation-in-slc16a2-in-a-patient-with-allan-herndon-dudley-syndrome
#7
Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira
No abstract text is available yet for this article.
September 1, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29105191/57th-annual-meeting-of-the-japanese-teratology-society-seeking-a-contact-between-humans-and-experimental-animals
#8
Hiroaki Aoyama
No abstract text is available yet for this article.
November 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.
September 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28598562/genetic-polymorphisms-and-folate-status
#10
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...
September 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28185308/medical-cost-savings-in-sakado-city-and-worldwide-achieved-by-preventing-disease-by-folic-acid-fortification
#11
REVIEW
Yasuo Kagawa, Mami Hiraoka, Mitsuyo Kageyama, Yoshiko Kontai, Mayumi Yurimoto, Chiharu Nishijima, Kaori Sakamoto
The introduction of mandatory fortification of grains with folate in 1998 in the United States resulted in 767 fewer spina bifida cases annually and a cost saving of $603 million per year. However, far more significant medical cost savings result from preventing common diseases, including myocardial infarction, stroke, dementia and osteoporosis. A cost-effectiveness analysis showed a gain of 266 649 quality-adjusted life-years and $3.6 billion saved annually, mainly due to the reduction of cardiac infarction...
September 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28815737/retroperitoneal-gastric-duplication-mimicking-a-prenatal-adrenal-cyst
#12
Aurora Lucía Castillo-Fernández, Fernando Vázquez-Rueda, Mª Dolores Cañete, Javier Caballero-Villarraso
No abstract text is available yet for this article.
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
#13
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
#14
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
#15
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
#16
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
#17
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/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
#18
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
#19
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
#20
Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Yoshitomo Yasui, Miyuki Kohno
No abstract text is available yet for this article.
July 4, 2017: Congenital Anomalies
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