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https://www.readbyqxmd.com/read/28087737/a-homozygous-mutation-in-trim36-causes-autosomal-recessive-anencephaly-in-an-indian-family
#1
Nivedita Singh, Vishwanath Kumble Bhat, Ankana Tiwari, Srinivas G Kodaganur, Sagar J Tontanahal, Astha Sarda, K V Malini, Arun Kumar
Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087321/enteric-nervous-system-development-a-crest-cell-s-journey-from-neural-tube-to-colon
#2
REVIEW
Nandor Nagy, Allan M Goldstein
The enteric nervous system (ENS) is comprised of a network of neurons and glial cells that are responsible for coordinating many aspects of gastrointestinal (GI) function. These cells arise from the neural crest, migrate to the gut, and then continue their journey to colonize the entire length of the GI tract. Our understanding of the molecular and cellular events that regulate these processes has advanced significantly over the past several decades, in large part facilitated by the use of rodents, avians, and zebrafish as model systems to dissect the signals and pathways involved...
January 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28086878/a-case-of-cranium-bifidum-with-meningocele-in-ayrshire-calf
#3
Mosiany Letura Kisipan, Caleb Oburu Orenge, David Njogu Gacheru, Raphael Muchangi Ngure
BACKGROUND: Congenital cranial bone defects predispose to herniation of meninges, sometimes with brain tissue involvement, to form a cerebrospinal fluid (CSF)-filled cyst in the head. Such defects mainly results from focal failure of neural tube closure during fetal development and has been reported in various species of domestic mammals. CASE PRESENTATION: A one week old Ayrshire calf with a fluctuant swelling on parieto-occipital region of the head was referred to the faculty...
January 13, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28077304/drosophila-dorsal-closure-an-orchestra-of-forces-to-zip-shut-the-embryo
#4
REVIEW
Peran Hayes, Jérôme Solon
Dorsal closure, a late-embryogenesis process, consists in the sealing of an epidermal gap on the dorsal side of the Drosophila embryo. Because of its similarities with wound healing and neural tube closure in humans, it has been extensively studied in the last twenty years. The process requires the coordination of several force generating mechanisms, that together will zip shut the epidermis. Recent works have provided a precise description of the cellular behavior at the origin of these forces and proposed quantitative models of the process...
January 7, 2017: Mechanisms of Development
https://www.readbyqxmd.com/read/28071661/neuronal-sflt1-and-vegfaa-determine-venous-sprouting-and-spinal-cord-vascularization
#5
Raphael Wild, Alina Klems, Masanari Takamiya, Yuya Hayashi, Uwe Strähle, Koji Ando, Naoki Mochizuki, Andreas van Impel, Stefan Schulte-Merker, Janna Krueger, Laetitia Preau, Ferdinand le Noble
Formation of organ-specific vasculatures requires cross-talk between developing tissue and specialized endothelial cells. Here we show how developing zebrafish spinal cord neurons coordinate vessel growth through balancing of neuron-derived Vegfaa, with neuronal sFlt1 restricting Vegfaa-Kdrl mediated angiogenesis at the neurovascular interface. Neuron-specific loss of flt1 or increased neuronal vegfaa expression promotes angiogenesis and peri-neural tube vascular network formation. Combining loss of neuronal flt1 with gain of vegfaa promotes sprout invasion into the neural tube...
January 10, 2017: Nature Communications
https://www.readbyqxmd.com/read/28067585/folic-acid-education-for-hispanic-women-the-promotora-de-salud-model
#6
Alina L Flores, Jennifer Isenburg, Christina L Hillard, Leslie deRosset, Lisa Colen, Troy Bush, Cara T Mai
BACKGROUND: Although rates of neural tube defects (NTDs) have declined in the United States since fortification, disparities still exist with Hispanic women having the highest risk of giving birth to a baby with a NTD. The Promotora de Salud model using community lay health workers has been shown to be an effective tool for reaching Hispanics for a variety of health topics; however, literature on its effectiveness in folic acid interventions is limited. MATERIALS AND METHODS: An intervention using the Promotora de Salud model was implemented in four U...
January 9, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28063572/suppl%C3%A3-mentation-pr%C3%A3-conceptionnelle-en-acide-folique-multivitamines-pour-la-pr%C3%A3-vention-primaire-et-secondaire-des-anomalies-du-tube-neural-et-d-autres-anomalies-cong%C3%A3-nitales-sensibles-%C3%A3-l-acide-folique
#7
R Douglas Wilson
OBJECTIF: Offrir des renseignements à jour sur l'utilisation pré et postconceptionnelle d'acide folique par voie orale, avec ou sans supplément de multivitamines / micronutriments, aux fins de la prévention des anomalies du tube neural et d'autres anomalies congénitales. Ces renseignements aideront les médecins, les sages-femmes, les infirmières et les autres professionnels de la santé à contribuer aux efforts de sensibilisation des femmes quant à l'utilisation et aux posologies adéquates de la supplémentation en acide folique / multivitamines, avant et pendant la grossesse...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28063560/anomalies-f%C3%A5-tales-affectant-le-tube-neural-d%C3%A3-pistage-diagnostic-pr%C3%A3-natal-et-prise-en-charge-de-la-grossesse
#8
R Douglas Wilson
No abstract text is available yet for this article.
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28059605/fetal-dna-hypermethylation-in-tight-junction-pathway-is-associated-with-neural-tube-defects-a-genome-wide-dna-methylation-analysis
#9
Linlin Wang, Shanshan Lin, Ji Zhang, Tian Tian, Lei Jin, Aiguo Ren
Neural tube defects (NTDs) are a spectrum of severe congenital malformations of fusion failure of the neural tube during early embryogenesis. Evidence on aberrant DNA methylation in NTD development remains scarce, especially when exposure to environmental pollutant is taken into consideration. DNA methylation profiling was quantified using the Infinium HumanMethylation450 array in neural tissues from 10 NTD cases and 8 non-malformed controls (stage 1). Subsequent validation was performed using a Sequenom MassARRAY system in neural tissues from 20 NTD cases and 20 non-malformed controls (stage 2)...
January 6, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28057917/an-integrated-miniature-bioprocessing-for-personalized-human-induced-pluripotent-stem-cell-expansion-and-differentiation-into-neural-stem-cells
#10
Haishuang Lin, Qiang Li, Yuguo Lei
Human induced pluripotent stem cells (iPSCs) are ideal cell sources for personalized cell therapies since they can be expanded to generate large numbers of cells and differentiated into presumably all the cell types of the human body in vitro. In addition, patient specific iPSC-derived cells induce minimal or no immune response in vivo. However, with current cell culture technologies and bioprocessing, the cost for biomanufacturing clinical-grade patient specific iPSCs and their derivatives are very high and not affordable for majority of patients...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28056489/use-of-high-frequency-ultrasound-to-study-the-prenatal-development-of-cranial-neural-tube-defects-and-hydrocephalus-in-gldc-deficient-mice
#11
Maria C Autuori, Yun J Pai, Daniel J Stuckey, Dawn Savery, Anna M Marconi, Valentina Massa, Mark F Lythgoe, Andrew J Copp, Anna L David, Nicholas D E Greene
OBJECTIVE: We used non-invasive high frequency ultrasound (HFUS) imaging to investigate embryonic brain development in a mouse model for neural tube defects (NTDs) and Non-Ketotic Hyperglycinemia (NKH). METHOD: Using HFUS, we imaged embryos carrying loss of function alleles of Gldc encoding glycine decarboxylase, a component of the glycine cleavage system in mitochondrial folate metabolism, which is known to be associated with cranial NTDs and NKH in humans. We serially examined the same litter during the second half of embryonic development and quantified cerebral structures...
January 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28050621/-a-two-faced-vitamin-folic-acid-prevention-or-promotion-of-colon-cancer
#12
Anke Weißenborn, Anke Ehlers, Karen-I Hirsch-Ernst, Alfonso Lampen, Birgit Niemann
In the late 1930s, it was discovered that liver and yeast extracts can be used to correct certain cases of megaloblastic anemia in pregnancy. The factor responsible for this was isolated from spinach leaves in the 1940s, and referred to as folate, a term derived from the Latin word folium for leaf. Folate is considered an essential nutrient for human beings. Folic acid, the synthetic form of the vitamin, is used in dietary supplements, medicines and fortified foods. Since the 1980s, it has been recommended that women who plan to become pregnant and pregnant women during the first trimester of pregnancy take folic acid supplements...
January 3, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28049690/rewiring-of-embryonic-glucose-metabolism-via-suppression-of-pfk-1-and-aldolase-during-mouse-chorioallantoic-branching
#13
Hidenobu Miyazawa, Yoshifumi Yamaguchi, Yuki Sugiura, Kurara Honda, Koki Kondo, Fumio Matsuda, Takehiro Yamamoto, Makoto Suematsu, Masayuki Miura
Adapting the energy metabolism state to changing bioenergetic demands is essential for mammalian development accompanying massive cell proliferation and cell differentiation. However, it remains unclear how developing embryos meet the changing bioenergetic demands during the chorioallantoic branching (CB) stage, when the maternal-fetal exchange of gases and nutrients is promoted. In this study, using metabolome analysis with mass-labeled glucose, we found that developing embryos redirected glucose carbon flow into the pentose phosphate pathway via suppression of the key glycolytic enzymes PFK-1 and aldolase during CB...
January 1, 2017: Development
https://www.readbyqxmd.com/read/28043919/a-spontaneous-and-novel-pax3-mutant-mouse-that-models-waardenburg-syndrome-and-neural-tube-defects
#14
Tetsuo Ohnishi, Ikuo Miura, Hisako Ohba, Chie Shimamoto, Yoshimi Iwayama, Shigeharu Wakana, Takeo Yoshikawa
BACKGROUND: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency. OBJECTIVE: In this study, we identified a spontaneous mutant mouse line Rwa, which displays variable white spots on mouse bellies and white digits and tail, on a C57BL/6N genetic background...
December 30, 2016: Gene
https://www.readbyqxmd.com/read/28034892/how-i-treat-anemia-in-pregnancy-iron-cobalamin-and-folate
#15
Maureen M Achebe, Anat Gafter-Gvili
Anemia of pregnancy is considered a global health problem, affecting almost 50% of pregnant women. Anemia is an important risk factor for both fetal and maternal morbidity. The purpose of this article is to discuss diagnosis and management of the most frequent causes of anemia in pregnancy: iron, cobalamin and folate deficiencies. This paper considers three clinical cases. Iron deficiency is the most common cause. The laboratory tests that define iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates and the literature addressing the efficacy and safety of intravenous iron in pregnancy are reviewed...
December 29, 2016: Blood
https://www.readbyqxmd.com/read/28034699/playing-with-the-cell-cycle-to-build-the-spinal-cord
#16
REVIEW
Angie Molina, Fabienne Pituello
A fundamental issue in nervous system development and homeostasis is to understand the mechanisms governing the balance between the maintenance of proliferating progenitors versus their differentiation into post-mitotic neurons. Accumulating data suggest that the cell cycle and core regulators of the cell cycle machinery play a major role in regulating this fine balance. Here, we focus on the interplay between the cell cycle and cellular and molecular events governing spinal cord development. We describe the existing links between the cell cycle and interkinetic nuclear migration (INM)...
December 26, 2016: Developmental Biology
https://www.readbyqxmd.com/read/28025141/mafb-is-required-for-development-of-the-hindbrain-choroid-plexus
#17
Ryusuke Koshida, Hisashi Oishi, Michito Hamada, Yosuke Takei, Satoru Takahashi
The choroid plexus (ChP) is a non-neural epithelial tissue that produces cerebrospinal fluid (CSF). The ChP differentiates from the roof plate, a dorsal midline structure of the neural tube. However, molecular mechanisms underlying ChP development are poorly understood compared to neural development. MafB is a bZip transcription factor that is known to be expressed in the roof plate. Here we investigated the role of MafB in embryonic development of the hindbrain ChP (hChP) using Mafb-deficient mice. Immunohistochemical analyses revealed that MafB is expressed in the roof plate and early hChP epithelial cells but its expression disappears at a later embryonic stage...
December 23, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28017643/the-posterior-neural-plate-in-axolotl-gives-rise-to-neural-tube-or-turns-anteriorly-to-form-somites-of-the-tail-and-posterior-trunk
#18
Yuka Taniguchi, Thomas Kurth, Susanne Weiche, Saskia Reichelt, Akira Tazaki, Srikanth Perike, Verena Kappert, Hans-Henning Epperlein
Classical grafting experiments in the Mexican axolotl had shown that the posterior neural plate of the neurula is no specified neuroectoderm but gives rise to somites of the tail and posterior trunk. The bipotentiality of this region with neuromesodermal progenitor cell populations was revealed more recently also in zebrafish, chick, and mouse. We reinvestigated the potency of the posterior plate in axolotl using grafts from transgenic embryos, immunohistochemistry, and in situ hybridization. The posterior plate is brachyury-positive except for its more anterior parts which express sox2...
December 22, 2016: Developmental Biology
https://www.readbyqxmd.com/read/28013255/preventing-neural-tube-defects
#19
EDITORIAL
Douglas Simkiss
No abstract text is available yet for this article.
December 24, 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/28013057/neural-control-of-ventilation-prevents-both-over-distension-and-de-recruitment-of-experimentally-injured-lungs
#20
Lukas Brander, Onnen Moerer, Göran Hedenstierna, Jennifer Beck, Jukka Takala, Arthur S Slutsky, Christer Sinderby
BACKGROUND: Endogenous pulmonary reflexes may protect the lungs during mechanical ventilation. We aimed to assess integration of continuous neurally adjusted ventilatory assist (cNAVA), delivering assist in proportion to diaphragm's electrical activity during inspiration and expiration, and Hering-Breuer inflation and deflation reflexes on lung recruitment, distension, and aeration before and after acute lung injury (ALI). METHODS: In 7 anesthetised rabbits with bilateral pneumothoraces, we identified adequate cNAVA level (cNAVAAL) at the plateau in peak ventilator pressure during titration procedures before (healthy lungs with endotracheal tube, [HLETT]) and after ALI (endotracheal tube [ALIETT] and during non-invasive ventilation [ALINIV])...
December 21, 2016: Respiratory Physiology & Neurobiology
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