Extracranial outflow of particles solved in cerebrospinal fluid: Fluorescein injection study
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. The movements of the probes were monitored by live imaging under fluorescent microscope. Following intraventricular injection, the probes dispersed into the 3rd ventricle and aqueduct immediately, but did not move into the 4th ventricle and spinal canal. After injection of low and high molecular weight conjugated probes, both probes dispersed into the brain but only ...
Source: Congenital Anomalies - September 1, 2017 Category: Genetics & Stem Cells Authors: Takuya Akai, Toshihisa Hatta, Hiroki Shimada, Keiji Mizuki, Nae Kudo, Taizo Hatta, Hiroki Otani Tags: Original Article Source Type: research
Outcomes of an International Volunteer Surgical Project for Patients with Cleft Lip and/or Cleft Palate: A Mission in Developing Laos
ABSTRACT
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 ...
Source: Congenital Anomalies - September 1, 2017 Category: Genetics & Stem Cells Authors: Takahiro Goto, Kazuhide Nishihara, Keiichi Kataoka, Shinpei Goto, Tessho Maruyama, Hajime Sunakawa, Nagato Natsume, Akira Arasaki Tags: Original Article Source Type: research
“D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly”
ABSTRACT
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. Although our previous studies showed that this gene is required for cell growth and division in vitro an...
Source: Congenital Anomalies - September 1, 2017 Category: Genetics & Stem Cells Authors: Masato Takimoto Tags: Mini Review Source Type: research
Progressive subglottic stenosis in a child with Pallister ‐Killian syndrome
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 29, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 29, 2017 Category: Genetics & Stem Cells Source Type: research
Unilateral lung agenesis, aplasia or hypoplasia: Which one is it?
(Source: Congenital Anomalies)
Source: Congenital Anomalies - August 29, 2017 Category: Genetics & Stem Cells Authors: Khristopher M. Nguyen, Snehal Vala, Sarah S. Milla, Lokesh Guglani Tags: Note Source Type: research
Interkinetic nuclear migration in the tracheal and esophageal epithelia of the mouse embryo: Possible implications for tracheo ‐esophageal anomalies
Congenital Anomalies,Volume 58, Issue 2, Page 62-70, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 6, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies,Volume 58, Issue 2, Page 62-70, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 6, 2017 Category: Genetics & Stem Cells Source Type: research
Unilateral lung agenesis, aplasia or hypoplasia: Which one is it?
Congenital Anomalies,Volume 58, Issue 2, Page 75-76, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 25, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies,Volume 58, Issue 2, Page 75-76, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 25, 2017 Category: Genetics & Stem Cells Source Type: research
Nutritional role of folate
Abstract
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. It has als...
Source: Congenital Anomalies - July 25, 2017 Category: Genetics & Stem Cells Authors: Shuhei Ebara Tags: Invited Review Article 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
Congenital Anomalies,Volume 58, Issue 2, Page 56-61, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 10, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies,Volume 58, Issue 2, Page 56-61, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 10, 2017 Category: Genetics & Stem Cells 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
Congenital Anomalies,Volume 58, Issue 2, Page 73-74, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 7, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies,Volume 58, Issue 2, Page 73-74, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 7, 2017 Category: Genetics & Stem Cells Source Type: research
