Read by QxMD icon Read

congenital vertebral defects

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
Heather Evans Anderson, Lionel Christiaen
Cardiac cell specification and the genetic determinants that govern this process are highly conserved among Chordates. Recent studies have established the importance of evolutionarily-conserved mechanisms in the study of congenital heart defects and disease, as well as cardiac regeneration. As a basal Chordate, the Ciona model system presents a simple scaffold that recapitulates the basic blueprint of cardiac development in Chordates. Here we will focus on the development and cellular structure of the heart of the ascidian Ciona as compared to other Chordates, principally vertebrates...
September 2016: Journal of Cardiovascular Development and Disease
Antonio Perez-Aytes, Purificacion Marin-Reina, Virginia Boso, Ana Ledo, John C Carey, Maximo Vento
Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipients of solid organ transplant and in many autoimmune diseases. In vitro studies, a significant number of single clinical observations and a recent study from a group of different European teratogen information services, have provided very consistent data supporting the existence of a specific MMF embryopathy. The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia...
September 14, 2016: European Journal of Medical Genetics
Daniel R Brown, Leigh Ann Samsa, Li Qian, Jiandong Liu
Animal models of cardiovascular disease are key players in the translational medicine pipeline used to define the conserved genetic and molecular basis of disease. Congenital heart diseases (CHDs) are the most common type of human birth defect and feature structural abnormalities that arise during cardiac development and maturation. The zebrafish, Danio rerio, is a valuable vertebrate model organism, offering advantages over traditional mammalian models. These advantages include the rapid, stereotyped and external development of transparent embryos produced in large numbers from inexpensively housed adults, vast capacity for genetic manipulation, and amenability to high-throughput screening...
June 2016: Journal of Cardiovascular Development and Disease
Bárbara Ribeiro, Joana Igreja, Miguel Gonçalves-Rocha, Alexandra Cadilhe
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed...
2016: BMJ Case Reports
Edward C Stanley, Paul A Azzinaro, David A Vierra, Niall G Howlett, Steven Q Irvine
Fanconi anemia (FA) is a human genetic disease characterized by congenital defects, bone marrow failure, and increased cancer risk. FA is associated with mutation in one of 24 genes. The protein products of these genes function cooperatively in the FA pathway to orchestrate the repair of DNA interstrand cross-links. Few model organisms exist for the study of FA. Seeking a model organism with a simpler version of the FA pathway, we searched the genome of the simple chordate Ciona intestinalis for homologs of the human FA-associated proteins...
2016: Evolutionary Bioinformatics Online
Kimberly Ashayeri, Rani Nasser, Jonathan Nakhla, Reza Yassari
INTRODUCTION: This technical note presents, to the authors' knowledge, the first reported case of a hybrid pedicle-cortical screw system for instrumented fusion in a patient with congenital vertebral column deformity. CASE: Cortical screws were navigated using stereotactic guidance to extend a prior non-segmented fusion mass, facilitating instrumentation in a circumstance with completely distorted anatomy. This technique provided a safe trajectory with excellent cortical purchase in an anatomically deformed spine...
May 2, 2016: European Spine Journal
Soma Dash, Archana D Siddam, Carrie E Barnum, Sarath Chandra Janga, Salil A Lachke
The molecular biology of metazoan eye development is an area of intense investigation. These efforts have led to the surprising recognition that although insect and vertebrate eyes have dramatically different structures, the orthologs or family members of several conserved transcription and signaling regulators such as Pax6, Six3, Prox1, and Bmp4 are commonly required for their development. In contrast, our understanding of posttranscriptional regulation in eye development and disease, particularly regarding the function of RNA-binding proteins (RBPs), is limited...
July 2016: Wiley Interdisciplinary Reviews. RNA
Neeraj Gupta, Rajasekaran S, Balamurali G, Ajoy Shetty
STUDY DESIGN: Retrospective case study by clinical and radiological data analysis. PURPOSE: To analyze different types of vertebral anomalies and the incidence of associated intraspinal anomalies in the Indian population. OVERVIEW OF LITERATURE: This is the largest study of congenital scoliosis and associated intraspinal anomalies in Indian population. Incidence of intraspinal anomaly in this series is 47% which is higher than previous literature...
April 2016: Asian Spine Journal
Sakima A Smith, Langston D Hughes, Crystal F Kline, Amber N Kempton, Lisa E Dorn, Jerry Curran, Michael Makara, Tyler R Webb, Patrick Wright, Niels Voigt, Philip F Binkley, Paul M L Janssen, Ahmet Kilic, Cynthia A Carnes, Dobromir Dobrev, Matthew N Rasband, Thomas J Hund, Peter J Mohler
β2-Spectrin is critical for integrating membrane and cytoskeletal domains in excitable and nonexcitable cells. The role of β2-spectrin for vertebrate function is illustrated by dysfunction of β2-spectrin-based pathways in disease. Recently, defects in β2-spectrin association with protein partner ankyrin-B were identified in congenital forms of human arrhythmia. However, the role of β2-spectrin in common forms of acquired heart failure and arrhythmia is unknown. We report that β2-spectrin protein levels are significantly altered in human cardiovascular disease as well as in large and small animal cardiovascular disease models...
June 1, 2016: American Journal of Physiology. Heart and Circulatory Physiology
Yixin Chen, Zhenlei Liu, Jia Chen, Yuzhi Zuo, Sen Liu, Weisheng Chen, Gang Liu, Guixing Qiu, Philip F Giampietro, Nan Wu, Zhihong Wu
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients...
July 2016: Journal of Medical Genetics
Takafumi Wataya, Kyohei Horikawa, Masashi Kitagawa, Yuzuru Tashiro
Lumbo-costo-vertebral syndrome (LCVS) is a rare disorder in children that is characterized by hemivertebrae, congenital absence of ribs, meningocele, and hypoplasia of the truncal and abdominal wall presenting as a congenital lumbar hernia. An otherwise healthy 12-month-old girl was referred to the authors' hospital with soft swelling on her left middle back; scoliosis had been present since birth. Imaging revealed a thoracic meningocele, ectopia of the spleen suggesting lumbar hernia, multiple anomalies of the thoracic vertebral columns, and defects of the ribs; thus, LCVS was diagnosed...
August 2016: Journal of Neurosurgery. Pediatrics
Vishal Keshari, Basma Adeeb, Alison E Simmons, Thomas W Simmons, Cuong Q Diep
High nitrate levels in the environment may result in congenital defects or miscarriages in humans. Presumably, this is due to the conversion of nitrate to nitrite by gut and salivary bacteria. However, in other mammalian studies, high nitrite levels do not cause birth defects, although they can lead to poor reproductive outcomes. Thus, the teratogenic potential of nitrite is not clear. It would be useful to have a vertebrate model system to easily assess teratogenic effects of nitrite or any other chemical of interest...
2016: Journal of Visualized Experiments: JoVE
Amira Elmakky, Ilaria Stanghellini, Antonio Landi, Antonio Percesepe
Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects...
August 2015: Current Genomics
P S Cho, S B Bauer, M Pennison, I Rosoklija, A L Bellows, T Logvinenko, S Khoshbin, J G Borer
BACKGROUND: Sacral agenesis (SA) is a rare congenital condition that refers to the absence of part or all of two or more lower sacral vertebral bodies. It can be associated with neurogenic bladder dysfunction that does not necessarily correlate with the level of spinal or skeletal defect. Patients with SA should undergo urodynamic studies (UDS) to guide lower urinary tract (LUT) management. OBJECTIVE: This review aimed to update the present institutional experience since 1981 of this rare patient population with detailed, long-term follow-up of bladder and kidney function...
June 2016: Journal of Pediatric Urology
N R Chevalier, E Gazguez, L Bidault, T Guilbert, C Vias, E Vian, Y Watanabe, L Muller, S Germain, N Bondurand, S Dufour, V Fleury
Neural crest cells (NCCs) are a population of multipotent cells that migrate extensively during vertebrate development. Alterations to neural crest ontogenesis cause several diseases, including cancers and congenital defects, such as Hirschprung disease, which results from incomplete colonization of the colon by enteric NCCs (ENCCs). We investigated the influence of the stiffness and structure of the environment on ENCC migration in vitro and during colonization of the gastrointestinal tract in chicken and mouse embryos...
2016: Scientific Reports
Heiko Reutter, Alina C Hilger, Friedhelm Hildebrandt, Michael Ludwig
The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL association present with a "Renal" phenotype comprising a large spectrum of congenital renal anomalies...
November 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Erica Silva, Ewelina Betleja, Emily John, Philip Spear, James J Moresco, Siwei Zhang, John R Yates, Brian J Mitchell, Moe R Mahjoub
The establishment of left-right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and cellular functions of the protein remain unknown. Here we demonstrate that Ccdc11 is a novel component of centriolar satellites-cytoplasmic granules that serve as recruitment sites for proteins destined for the centrosome and cilium. Ccdc11 interacts with core components of satellites, and its loss disrupts the subcellular organization of satellite proteins and perturbs primary cilium assembly...
January 1, 2016: Molecular Biology of the Cell
Efrén Martínez-Quintana, Fayna Rodríguez-González
Patients with mild pulmonary hypoplasia typically use to have minimal respiratory symptoms. Nonetheless, other associated anomalies such as cardiac, gastrointestinal, genitourinary, or skeletal defects may be seen. We report the case of a 17-year-old male patient with hypoplastic right lung with secondary cardiac dextroposition, an ostium secundum atrial septal defect, a hypoplastic right pulmonary artery arising from the posterior wall of the left pulmonary artery with a retrocava course, vertebral bone fusion and pollicization due to right congenital thumb absence...
2015: Pneumologia: Revista Societății Române de Pneumologie
S Joseph Endicott, Basudha Basu, Mustafa Khokha, Martina Brueckner
Vertebrate left-right (LR) asymmetry originates at a transient left-right organizer (LRO), a ciliated structure where cilia play a crucial role in breaking symmetry. However, much remains unknown about the choreography of cilia biogenesis and resorption at this organ. We recently identified a mutation affecting NEK2, a member of the NIMA-like serine-threonine kinase family, in a patient with congenital heart disease associated with abnormal LR development. Here, we report how Nek2 acts through cilia to influence LR patterning...
December 1, 2015: Development
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"