keyword
MENU ▼
Read by QxMD icon Read
search

congenital vertebral defects

keyword
https://www.readbyqxmd.com/read/28196803/neural-tube-closure-cellular-molecular-and-biomechanical-mechanisms
#1
REVIEW
Evanthia Nikolopoulou, Gabriel L Galea, Ana Rolo, Nicholas D E Greene, Andrew J Copp
Neural tube closure has been studied for many decades, across a range of vertebrates, as a paradigm of embryonic morphogenesis. Neurulation is of particular interest in view of the severe congenital malformations - 'neural tube defects' - that result when closure fails. The process of neural tube closure is complex and involves cellular events such as convergent extension, apical constriction and interkinetic nuclear migration, as well as precise molecular control via the non-canonical Wnt/planar cell polarity pathway, Shh/BMP signalling, and the transcription factors Grhl2/3, Pax3, Cdx2 and Zic2...
February 15, 2017: Development
https://www.readbyqxmd.com/read/28167492/disruption-of-pdgfra-alters-endocardial-and-myocardial-fusion-during-zebrafish-cardiac-assembly
#2
Suzan El-Rass, Shahram Eisa-Beygi, Edbert Khong, Koroboshka Brand-Arzamendi, Antonio Mauro, Haibo Zhang, Karl J Clark, Stephen C Ekker, Xiao-Yan Wen
Cardiac development in vertebrates is a finely tuned process regulated by a set of conserved signaling pathways. Perturbations of these processes are often associated with congenital cardiac malformations. Platelet-derived growth factor receptor α (PDGFRα) is a highly conserved tyrosine kinase receptor, which is essential for development and organogenesis. Disruption of Pdgfrα function in murine models are embryonic lethal due to severe cardiovascular defects, suggesting a role in cardiac development, thus necessitating the use of alternative models to explore its precise function...
February 6, 2017: Biology Open
https://www.readbyqxmd.com/read/28106524/the-utility-of-3d-printing-for-surgical-planning-and-patient-specific-implant-design-for-complex-spinal-pathologies-case-report
#3
Ralph J Mobbs, Marc Coughlan, Robert Thompson, Chester E Sutterlin, Kevin Phan
OBJECTIVE There has been a recent renewed interest in the use and potential applications of 3D printing in the assistance of surgical planning and the development of personalized prostheses. There have been few reports on the use of 3D printing for implants designed to be used in complex spinal surgery. METHODS The authors report 2 cases in which 3D printing was used for surgical planning as a preoperative mold, and for a custom-designed titanium prosthesis: one patient with a C-1/C-2 chordoma who underwent tumor resection and vertebral reconstruction, and another patient with a custom-designed titanium anterior fusion cage for an unusual congenital spinal deformity...
January 20, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28079273/abnormal-fetal-muscle-forces-result-in-defects-in-spinal-curvature-and-alterations-in-vertebral-segmentation-and-shape
#4
Rebecca A Rolfe, James H Bezer, Tyler Kim, Ahmed Z Zaidon, Michelle L Oyen, James C Iatridis, Niamh C Nowlan
The incidence of congenital spine deformities, including congenital scoliosis, kyphosis and lordosis, may be influenced by the in utero mechanical environment, and particularly by fetal movements at critical time-points. There is a limited understanding of the influence of fetal movements on spinal development, despite the fact that mechanical forces have been shown to play an essential role in skeletal development of the limb. This study investigates the effects of muscle forces on spinal curvature, vertebral segmentation and vertebral shape by inducing rigid or flaccid paralysis in the embryonic chick...
January 12, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28057270/the-roles-of-t-box-genes-in-vertebrate-limb-development
#5
C J Sheeba, M P O Logan
Members of the T-box gene family have diverse roles during embryogenesis and many play critical roles in the developing limb. This is exemplified by the fact that, in humans, mutations in T-box genes are associated with several congenital syndromes that include limb defects as part of their characteristic spectrum of abnormalities. T-box genes encode for evolutionary conserved transcription factors that include both transcriptional activators and repressors. The hallmark of T-box gene members is the presence of the eponymous DNA-binding T-box domain...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#6
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28007475/mechanisms-of-retinoic-acid-signaling-during-cardiogenesis
#7
REVIEW
Sonia Stefanovic, Stéphane Zaffran
Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a derivative of vitamin A, plays a key role during vertebrate development including the formation of the heart. Retinoids bind to RA and retinoid X receptors (RARs and RXRs) which then regulate tissue-specific genes. Here, we will focus on the roles of RA signaling and receptors in gene regulation during cardiogenesis, and the consequence of deregulated retinoid signaling on heart formation and congenital heart defects...
December 19, 2016: Mechanisms of Development
https://www.readbyqxmd.com/read/28006008/osmotic-and-heat-stress-effects-on-segmentation
#8
Julian Weiss, Stephen H Devoto
During vertebrate embryonic development, early skin, muscle, and bone progenitor populations organize into segments known as somites. Defects in this conserved process of segmentation lead to skeletal and muscular deformities, such as congenital scoliosis, a curvature of the spine caused by vertebral defects. Environmental stresses such as hypoxia or heat shock produce segmentation defects, and significantly increase the penetrance and severity of vertebral defects in genetically susceptible individuals. Here we show that a brief exposure to a high osmolarity solution causes reproducible segmentation defects in developing zebrafish (Danio rerio) embryos...
2016: PloS One
https://www.readbyqxmd.com/read/27999267/zebrafish-as-a-vertebrate-model-system-to-evaluate-effects-of-environmental-toxicants-on-cardiac-development-and-function
#9
REVIEW
Swapnalee Sarmah, James A Marrs
Environmental pollution is a serious problem of the modern world that possesses a major threat to public health. Exposure to environmental pollutants during embryonic development is particularly risky. Although many pollutants have been verified as potential toxicants, there are new chemicals in the environment that need assessment. Heart development is an extremely sensitive process, which can be affected by environmentally toxic molecule exposure during embryonic development. Congenital heart defects are the most common life-threatening global health problems, and the etiology is mostly unknown...
December 16, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27956219/hoxa1-and-hoxb1-are-required-for-pharyngeal-arch-artery-development
#10
Marine Roux, Brigitte Laforest, Nathalie Eudes, Nicolas Bertrand, Sonia Stefanovic, Stéphane Zaffran
Hox transcription factors play critical roles during early vertebrate development. Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres from which neural crest cells emerge. A recent study on Hoxa1 mutant mice documented its function during cardiovascular development, however, the role of Hoxb1 is still unclear. Here we show using single and compound Hoxa1;Hoxb1 mutant embryos that reduction of Hoxa1 gene dosage in Hoxb1-null genetic background is sufficient to result in abnormal pharyngeal aortic arch (PAA) development and subsequently in great artery defects...
December 9, 2016: Mechanisms of Development
https://www.readbyqxmd.com/read/27942472/cutis-tricolor-a-literature-review-and-report-of-five-new-cases
#11
Martino Ruggieri, Agata Polizzi, Carmelo Schepis, Massimiliano Morano, Serena Strano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Mario Roggini, Emanule David, Vincenzo Salpietro, Pietro Milone
BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#12
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#13
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27886392/deregulated-expression-of-ezh2-in-congenital-brainstem-disconnection
#14
P G Barth, E Aronica, S Fox, K Fluiter, M A J Weterman, A Poretti, D C Miller, E Boltshauser, B Harding, M Santi, F Baas
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and the cerebellum is globally hypoplastic. A recent update and review[1] lists 14 cases, including 3 brain autopsy studies[1-3]. Necrosis and glial- or inflammatory reactions were absent. Inferior olivary nuclei were small or absent, pontine nuclei depleted, and the cerebellar dentate nuclei dysplastic...
November 25, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27879578/retrospective-analysis-of-congenital-scoliosis-associated-anomalies-and-genetic-diagnoses
#15
Eliane Beauregard-Lacroix, Jessica Tardif, Maria Vittoria Camurri, Emmanuelle Lemyre, Soraya Barchi, Stefan Parent, Philippe M Campeau
STUDY DESIGN: Retrospective study of a series of 286 patients with congenital scoliosis OBJECTIVE.: To describe a large cohort of patients with congenital scoliosis and to propose an algorithm for genetic investigations SUMMARY OF BACKGROUND DATA.: Congenital scoliosis is characterized by a spine curvature due to congenital malformations of the vertebrae and is frequently associated to other anomalies. The underlying causes remain unclear in most patients, although we know that genetics plays a role in the development of vertebral defects...
November 22, 2016: Spine
https://www.readbyqxmd.com/read/27858533/revisiting-the-differences-between-irreducible-and-reducible-atlantoaxial-dislocation-in-the-era-of-direct-posterior-approach-and-c1-2-joint-manipulation
#16
Arsikere N Deepak, Pravin Salunke, Sushanta K Sahoo, Prashant K Prasad, Niranjan K Khandelwal
OBJECTIVE The current management of atlantoaxial dislocation (AAD) focuses on the C1-2 joints, commonly approached through a posterior route. The distinction between reducible AAD (RAAD) and irreducible AAD (IrAAD) seems to be less important in modern times. The roles of preoperative traction and dynamic radiographs are questionable. This study evaluated whether differentiating between the 2 groups is important in today's era. METHODS Ninety-six consecutive patients with congenital AAD (33 RAAD and 63 IrAAD), who underwent surgery through a posterior approach alone, were studied...
November 18, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27844411/fetal-situs-isomerism-heterotaxy-syndrome-diagnostic-evaluation-and-implication-for-postnatal-management
#17
REVIEW
Karl Degenhardt, Jack Rychik
A hallmark of vertebrate anatomy is asymmetry of structures, especially internal organs, on the left and right side of the body. Heterotaxy syndrome is the combination of correct-sided, and incorrect-sided organs. The establishment of the left-right axis is an early event in vertebrate embryogenesis. Failure to establish this axis has numerous consequences for later development and can result in a wide range of potential defects. Congenital heart disease is among the more frequent and serious problems. Heterotaxy syndrome is diagnosed prenatally with increasing frequency due to improved screening practices...
December 2016: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27822764/hemimetameric-shift-in-spina-bifida-three-case-reports
#18
Huseyin Canaz, Gokhan Canaz, Bekir Yavuz Ucar, Ibrahim Alatas
PURPOSE: Hemivertebrae is the most frequent reason of congenital scoliosis, and hemimetameric shift is a finding, which is characterized by two hemivertebraes located contralateral, with at least one normal vertebra between them. Embryologically, hemivertebrae is caused by delay in somite movements and as a result, a total vertebral shift occurs because of mismatches in the following segments. Hemimetameric shift accompanying spina bifida is described as extremely rare. There are only two case series of hemimetameric shift in literature but no spina bifida patient was reported in these series...
November 7, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27810111/embryonic-exposures-to-perfluorooctanesulfonic-acid-pfos-disrupt-pancreatic-organogenesis-in-the-zebrafish-danio-rerio
#19
Karilyn E Sant, Haydee M Jacobs, Katrina A Borofski, Jennifer B Moss, Alicia R Timme-Laragy
Perfluorooctanesulfonic acid (PFOS) is a ubiquitous environmental contaminant, previously utilized as a non-stick application for consumer products and firefighting foam. It can cross the placenta, and has been repeatedly associated with increased risk for diabetes in epidemiological studies. Here, we sought to establish the hazard posed by embryonic PFOS exposures on the developing pancreas in a model vertebrate embryo, and develop criteria for an adverse outcome pathway (AOP) framework to study the developmental origins of metabolic dysfunction...
January 2017: Environmental Pollution
https://www.readbyqxmd.com/read/27647915/mechanism-of-inhibition-of-the-tumor-suppressor-patched-by-sonic-hedgehog
#20
Hanna Tukachinsky, Kostadin Petrov, Miyako Watanabe, Adrian Salic
The Hedgehog cell-cell signaling pathway is crucial for animal development, and its misregulation is implicated in numerous birth defects and cancers. In unstimulated cells, pathway activity is inhibited by the tumor suppressor membrane protein, Patched. Hedgehog signaling is triggered by the secreted Hedgehog ligand, which binds and inhibits Patched, thus setting in motion the downstream events in signal transduction. Despite its critical importance, the mechanism by which Hedgehog antagonizes Patched has remained unknown...
October 4, 2016: Proceedings of the National Academy of Sciences of the United States of America
keyword
keyword
44716
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"