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Congenital Anomalies

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https://www.readbyqxmd.com/read/29322592/predicting-the-intrauterine-fetal-death-of-fetuses-with-cystic-hygroma-in-early-pregnancy
#1
Mai Shimura, Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami
We investigated whether it was possible to predict the prognosis of fetuses with cystic hygroma (CH) in early pregnancy based on the degree of neck thickening. We retrospectively analyzed 57 singleton pregnancies with fetuses with CH who were examined before the 22nd week of pregnancy. The fetuses were categorized according to the outcome, structural abnormalities at birth, and chromosomal abnormalities. Here, we proposed a new sonographic predictor with which we assessed neck thickening by dividing the width of the neck thickening by the biparietal diameter (BPD), which is expressed as the CH/BPD ratio (CBR)...
January 11, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322562/a-pure-21q22-3-deletion-identified-in-a-patient-with-mild-phenotypic-features
#2
Ilária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa-Mendes, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Partial deletions at the chromosome 21 have been rarely reported and in the majority of descriptions are associated with ring chromosome 21, resulting in terminal deletions of 21q22.3 and a large phenotypic variability (Roberson et al.,2011).
January 11, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322554/transcription-factor-foxc1-is-involved-in-anterior-part-of-cranial-base-formation
#3
Nandar Mya, Toshiko Furutera, Shigeru Okuhara, Tsutomu Kume, Masaki Takechi, Sachiko Iseki
The cranial base is a structure mainly formed through endochondral ossification, and integrated into the craniofacial complex acting as an underlying platform for developing brain. Foxc1 is an indispensable regulator during intramembranous and endochondral ossification. In this study, we found that the spontaneous loss of Foxc1 function mouse (congenital hydrocephalous), Foxc1ch/ch , showed the anterior cranial base defects including unossified presphenoid and lack of middle part of the basisphenoid bone. Consistently, hypoplastic presphenoid primordial cartilage (basal portion of the trabecular cartilage) and lack of the middle part of basisphenoid primordial cartilage (the hypophyseal cartilage) were observed at earlier developmental stage...
January 11, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29292840/a-novel-missense-mutation-of-l1cam-in-a-fetus-with-isolated-hydrocephalus
#4
Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li
Fetal hydrocephalus is a descriptive diagnosis of symptoms, which can result from numerous causes, including developmental anomalies, chromosomal disorders, genetic syndromes and intrauterine infection (Tully et al. 2014). Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS, OMIM# 307000), also named as X-linked hydrocephalus, was first described in the 1940s.
January 2, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29266424/repairability-of-skeletal-alterations-induced-by-sodium-valproate-in-rats
#5
Yuka Kirihata, Yoshiki Ban, Chiaki Nakamori, Hironori Takagi, Tomonori Hashimoto, Shunsuke Tsutsumi
The present study aimed at examining postnatal repairability of sodium valproate (VPA)-induced skeletal alterations in rats. VPA (400 mg/kg) or the vehicle (distilled water) was orally administrated to pregnant Sprague-Dawley rats from gestation day (GD) 9 to 11. Fetuses and pups were obtained on GD 21 and postnatal day (PND) 11, respectively, and their skeletons were stained with Alizarin red S and Alcian blue and examined. VPA-induced costal and vertebral alterations in the fetuses included discontinued rib cartilage, fused rib, full or short supernumerary rib, bipart ossification of thoracic centrum, supernumerary lumbar vertebrae, and lumbarization...
December 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29266422/comment-on-a-prospective-study-on-fetal-posterior-cranial-fossa-assessment-for-early-detection-of-open-spina-bifida-at-11-13-weeks-by-kose-et-al
#6
LETTER
Robert Lachmann
congratulations to your excellent article: A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11-13 weeks. Your work is asking the most important questions clarifying this issue.
December 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29232008/international-volunteer-surgical-project-for-cleft-lip-cleft-palate-in-laos
#7
LETTER
Beuy Joob, Viroj Wiwanitkit
we read the publication on "Outcomes of an international volunteer surgical project for patients with cleft lip and/or cleft palate: A mission in developing Laos "with a great interest (Got et al. 2007). Goto et al. (2007) concluded that "This was likely an effect of continuing to train local medical staff in surgical techniques and donating surgical tools and facilities over a period of 16 years while building a good relationship with local staff. However, the healthcare system in Laos is an obstacle to some patients who still cannot undergo CL/P surgery in infancy for financial reasons...
December 12, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#8
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
VACTERL is a congenital malformation characterized by vertebral defects (V), anal atresia (A), cardiac malformation (C), tracheoesophageal fistula (T), esophageal atresia (E), radial or renal dysplasia (R), and limb abnormalities (L) (McCauley et al. 2011). An association of VACTERL with ventriculomegaly or clinical hydrocephalus, known as VACTERL-H, was reported to have poor prognosis. Here, we report a case of VACTERL-H with an X-linked family history and a deleted exon 3 in FANCB.
December 12, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29232001/novel-sequence-variants-in-the-mkks-gene-cause-bardet-biedl-syndrome-with-intra-and-inter-familial-variable-phenotypes
#9
Asmat Ullah, Maryam Khalid, Muhammad Umair, Sher Alam Khan, Muhammad Bilal, Saadullah Khan, Wasim Ahmad
Bardet-Biedl Syndrome (BBS) is a multisystem disorder involving retina, kidney, limbs and nervous system. Additional features associated with BBS include dental anomalies, cardiovascular defects, hearing loss and speech impairment (Beales et al. 199; Ullah and Umair et al. 2017). Diagnosis of BBS is based on the presence of four out of six primary or three primary and two secondary phenotypes.
December 12, 2017: Congenital Anomalies
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
#10
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/29105191/57th-annual-meeting-of-the-japanese-teratology-society-seeking-a-contact-between-humans-and-experimental-animals
#11
Hiroaki Aoyama
No abstract text is available yet for this article.
November 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29030958/association-of-meox2-polymorphism-with-nonsyndromic-cleft-palate-only-in-a-vietnamese-population
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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/28708254/preconceptional-folic-acid-supplementation-in-japan
#18
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
#19
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
#20
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
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