keyword
MENU ▼
Read by QxMD icon Read
search

congenital vertebral defects

keyword
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27642586/ciona-as-a-simple-chordate-model-for-heart-development-and-regeneration
#9
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
https://www.readbyqxmd.com/read/27639443/mycophenolate-mofetil-embryopathy-a-newly-recognized-teratogenic-syndrome
#10
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
https://www.readbyqxmd.com/read/27335817/advances-in-the-study-of-heart-development-and-disease-using-zebrafish
#11
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
https://www.readbyqxmd.com/read/27329096/goldenhar-syndrome-a-rare-diagnosis-with-possible-prenatal-findings
#12
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
https://www.readbyqxmd.com/read/27279728/the-simple-chordate-ciona-intestinalis-has-a-reduced-complement-of-genes-associated-with-fanconi-anemia
#13
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
https://www.readbyqxmd.com/read/27137999/the-use-of-a-pedicle-screw-cortical-screw-hybrid-system-for-the-surgical-treatment-of-a-patient-with-congenital-multilevel-spinal-non-segmentation-defect-and-spinal-column-deformity-a-technical-note
#14
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
https://www.readbyqxmd.com/read/27133484/rna-binding-proteins-in-eye-development-and-disease-implication-of-conserved-rna-granule-components
#15
REVIEW
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
https://www.readbyqxmd.com/read/27114768/vertebral-and-intraspinal-anomalies-in-indian-population-with-congenital-scoliosis-a-study-of-119-consecutive-patients
#16
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
https://www.readbyqxmd.com/read/27106045/dysfunction-of-the-%C3%AE-2-spectrin-based-pathway-in-human-heart-failure
#17
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
https://www.readbyqxmd.com/read/27084730/the-genetic-landscape-and-clinical-implications-of-vertebral-anomalies-in-vacterl-association
#18
REVIEW
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
https://www.readbyqxmd.com/read/27058456/thoracic-meningocele-in-lumbo-costo-vertebral-syndrome-in-a-child-possible-enlargement-with-repeated-motion-by-anchoring-to-the-diaphragm
#19
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
https://www.readbyqxmd.com/read/26967718/zebrafish-as-a-model-to-assess-the-teratogenic-potential-of-nitrite
#20
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
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"