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congenital vertebral defects

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https://www.readbyqxmd.com/read/29761492/c7-vertebra-homeotic-transformation-in-domestic-dogs-are-pug-dogs-breaking-mammalian-evolutionary-constraints
#1
J Brocal, S De Decker, R José-López, E G Manzanilla, J Penderis, C Stalin, S Bertram, J J Schoenebeck, C Rusbridge, N Fitzpatrick, R Gutierrez-Quintana
The number of cervical vertebrae in mammals is almost constant at seven, regardless of their neck length, implying that there is selection against variation in this number. Homebox (Hox) genes are involved in this evolutionary mammalian conservation, and homeotic transformation of cervical into thoracic vertebrae (cervical ribs) is a common phenotypic abnormality when Hox gene expression is altered. This relatively benign phenotypic change can be associated with fatal traits in humans. Mutations in genes upstream of Hox, inbreeding and stressors during organogenesis can also cause cervical ribs...
May 14, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29743679/control-of-cardiac-jelly-dynamics-by-notch1-and-nrg1-defines-the-building-plan-for-trabeculation
#2
Gonzalo Del Monte-Nieto, Mirana Ramialison, Arne A S Adam, Bingruo Wu, Alla Aharonov, Gabriele D'Uva, Lauren M Bourke, Mara E Pitulescu, Hanying Chen, José Luis de la Pompa, Weinian Shou, Ralf H Adams, Sarah K Harten, Eldad Tzahor, Bin Zhou, Richard P Harvey
In vertebrate hearts, the ventricular trabecular myocardium develops as a sponge-like network of cardiomyocytes that is critical for contraction and conduction, ventricular septation, papillary muscle formation and wall thickening through the process of compaction 1 . Defective trabeculation leads to embryonic lethality2-4 or non-compaction cardiomyopathy (NCC) 5 . There are divergent views on when and how trabeculation is initiated in different species. In zebrafish, trabecular cardiomyocytes extrude from compact myocardium 6 , whereas in chicks, chamber wall thickening occurs before overt trabeculation 7 ...
May 9, 2018: Nature
https://www.readbyqxmd.com/read/29615572/the-role-of-hedgehog-signalling-in-the-formation-of-the-ventricular-septum
#3
REVIEW
Antonia Wiegering, Ulrich Rüther, Christoph Gerhardt
An incomplete septation of the ventricles in the vertebrate heart that disturbes the strict separation between the contents of the two ventricles is termed a ventricular septal defect (VSD). Together with bicuspid aortic valves, it is the most frequent congenital heart disease in humans. Until now, life-threatening VSDs are usually treated surgically. To avoid surgery and to develop an alternative therapy (e.g., a small molecule therapy), it is necessary to understand the molecular mechanisms underlying ventricular septum (VS) development...
December 12, 2017: Journal of Developmental Biology
https://www.readbyqxmd.com/read/29614284/animal-left-right-asymmetry
#4
Martin Blum, Tim Ott
Symmetry is appealing, be it in architecture, art or facial expression, where symmetry is a key feature to finding someone attractive or not. Yet, asymmetries are widespread in nature, not as an erroneous deviation from the norm but as a way to adapt to the prevailing environmental conditions at a time. Asymmetries in many cases are actively selected for: they might well have increased the evolutionary fitness of a species. Even many single-celled organisms are built asymmetrically, such as the pear-shaped ciliate Paramecium, which may depend on its asymmetry to navigate towards the oxygen-richer surface of turbid waters, at least based on modeling...
April 2, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29595115/efficacy-and-non-invasive-treatment-of-sialorrhea-in-the-goldenhar-syndrome
#5
R Marvulli, G A Gallo, L Mastromauro, P Fiore, G Ianieri, M Megna
Goldenhar syndrome (ocular-auricular-vertebral syndrome), a rare congenital condition arising from defects in the first and second brachial arches, consists in clinical variety of features ranging from facial abnormalities, ear-eye abnormalities, vertebral defects and congenital heart problems and severe obstructive sleep apnea. Due to craniofacial abnormalities, patients presents mechanical obstructive phenomena and sialorrhea that cause prone position, language's fastening, use of nasopharyngeal cannulas and tracheal intubation...
March 28, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29564519/planar-cell-polarity-signaling-in-mammalian-cardiac-morphogenesis
#6
Ding Li, Jianbo Wang
The mammalian heart is the first organ to form and is critical for embryonic survival and development. With an occurrence of 1%, congenital heart defects (CHDs) are also the most common birth defects in humans, and major cause of childhood morbidity and mortality (Hoffman and Kaplan in J Am Coll Cardiol 39(12):1890-1900, 2002; Samanek in Cardiol Young 10(3):179-185, 2000). Understanding how the heart forms will not only help to determine the etiology and to design diagnostic and therapeutic approaches for CHDs, but may also provide insight into regenerative medicine to repair injured adult hearts...
March 22, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29557629/-pai-syndrome-two-new-cases-with-unusual-manifestations
#7
Victoria Huckstadt, María E Heis Mendoza, Angélica Moresco, María G Obregon
Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 cases have been reported in the literature. Different types of inheritance have been proposed, but most cases are sporadic. No gene has been identified. We report two cases with Pai syndrome, one of them with novel clinical findings as vertebral segmentation defects and choroidal osteoma...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29530019/multiple-midline-defects-identified-in-a-litter-of-golden-retrievers-following-gestational-administration-of-prednisone-and-doxycycline-a-case-series
#8
Joanna L Kaplan, Catherine T Gunther-Harrington, Jessie S Sutton, Joshua A Stern
BACKGROUND: The teratogenic effects of immunomodulatory and certain antimicrobial therapies are described in small rodents and humans. While the described teratogenic effects in small rodents have been extrapolated to make conclusions about its use in the pregnant dam, teratogenic effects of prednisone and doxycycline have not yet been reported in the dog. Here we report and describe midline defects observed in a litter of golden retriever puppies exposed to mid-gestational immunosuppressive and antimicrobial therapy...
March 12, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29519855/evaluation-of-radiography-as-a-screening-method-for-detection-and-characterisation-of-congenital-vertebral-malformations-in-dogs
#9
Josep Brocal, Steven De Decker, Roberto José-López, Julien Guevar, Maria Ortega, Tim Parkin, Gert Ter Haar, Rodrigo Gutierrez-Quintana
Congenital vertebral malformations (CVM) are common in brachycephalic 'screw-tailed' dogs; they can be associated with neurological deficits and a genetic predisposition has been suggested. The purpose of this study was to evaluate radiography as a screening method for congenital thoracic vertebral malformations in brachycephalic 'screw-tailed' dogs by comparing it with CT. Forty-nine dogs that had both radiographic and CT evaluations of the thoracic vertebral column were included. Three observers retrospectively reviewed the images independently to detect CVMs...
May 19, 2018: Veterinary Record
https://www.readbyqxmd.com/read/29506241/pitx2-deficiency-and-associated-human-disease-insights-from-the-zebrafish-model
#10
Kathryn E Hendee, Elena A Sorokina, Sanaa S Muheisen, Linda M Reis, Rebecca C Tyler, Vujica Markovic, Goran Cuturilo, Brian A Link, Elena V Semina
The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1, an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few others described cardiac phenotypes...
May 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29472449/nrf2-activation-attenuates-genetic-endoplasmic-reticulum-stress-induced-by-a-mutation-in-the-phosphomannomutase-2-gene-in-zebrafish
#11
Katsuki Mukaigasa, Tadayuki Tsujita, Vu Thanh Nguyen, Li Li, Hirokazu Yagi, Yuji Fuse, Yaeko Nakajima-Takagi, Koichi Kato, Masayuki Yamamoto, Makoto Kobayashi
Nrf2 plays critical roles in animals' defense against electrophiles and oxidative stress by orchestrating the induction of cytoprotective genes. We previously isolated the zebrafish mutant it768 , which displays up-regulated expression of Nrf2 target genes in an uninduced state. In this paper, we determine that the gene responsible for it768 was the zebrafish homolog of phosphomannomutase 2 (Pmm2), which is a key enzyme in the initial steps of N-glycosylation, and its mutation in humans leads to PMM2-CDG (congenital disorders of glycosylation), the most frequent type of CDG...
March 13, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29367552/the-role-of-cerl2-in-the-establishment-of-left-right-asymmetries-during-axis-formation-and-heart-development
#12
REVIEW
José A Belo, Sara Marques, José M Inácio
The formation of the asymmetric left-right (LR) body axis is one of the fundamental aspects of vertebrate embryonic development, and one still raising passionate discussions among scientists. Although the conserved role of nodal is unquestionable in this process, several of the details around this signaling cascade are still unanswered. To further understand this mechanism, we have been studying Cerberus-like 2 (Cerl2), an inhibitor of Nodal, and its role in the generation of asymmetries in the early vertebrate embryo...
December 10, 2017: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29354748/spondylolisthesis-with-spondylolysis-in-a-17-month-old-a-case-report
#13
Marc O'Donnell, William F Lavelle, Mike H Sun
Spondylolysis is frequently seen in adolescents, typically at the L5 vertebral level. While there may be a congenital predisposition for spondylolysis, it has long been suggested that the defect results from a fatigue or stress fracture of the pars interarticularis. Spondylolisthesis may result from a bilateral spondylolytic defect and is frequently asymptomatic. There is a paucity of literature on infant and toddler spondylolysis, as the focus is primarily on school-aged children, typically those over ten years of age...
December 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/29301846/epithelial-properties-of-the-second-heart-field
#14
REVIEW
Claudio Cortes, Alexandre Francou, Christopher De Bono, Robert G Kelly
The vertebrate heart tube forms from epithelial progenitor cells in the early embryo and subsequently elongates by progressive addition of second heart field (SHF) progenitor cells from adjacent splanchnic mesoderm. Failure to maximally elongate the heart results in a spectrum of morphological defects affecting the cardiac poles, including outflow tract alignment and atrioventricular septal defects, among the most common congenital birth anomalies. SHF cells constitute an atypical apicobasally polarized epithelium with dynamic basal filopodia, located in the dorsal wall of the pericardial cavity...
January 5, 2018: Circulation Research
https://www.readbyqxmd.com/read/29289915/-congenital-anomalies-of-craniovertebral-junction-presenting-after-50-years-of-age-an-oxymoron-or-an-unusual-variation
#15
Pravin Salunke, Madhivanan Karthigeyan, Narasimhaiah Sunil, Vasundhara Rangan
OBJECTIVES: Manifestation of congenital anomalies of cranio-vertebral junction (CVJ) in the later half of life is unusual and intriguing. Coexisting cervical spondylotic changes with multilevel compression, poorer bone quality as well as less smooth post-surgical recuperation make management of elderly Congenital Atlantoaxial Dislocation/ Basilar Invagination (CAAD/BI) challenging. The clinico-radiological presentation, pathogenesis and outcome are analysed here. PATIENTS AND METHODS: Clinico-radiological data of 20 patients of CAAD/BI (with markers of congenital anomalies) presenting after 50 years of age, the challenges faced and outcomes after C1-C2 fusion have been analysed...
February 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29250692/esophageal-atresia-with-distal-fistula-unusual-case-series-considerations-related-to-epidemiological-aspects-malformative-associations-and-prenatal-diagnosis
#16
Maria Livia Ognean, Laura Corina Zgârcea, Laura Bălănescu, Oana Boantă, Raluca Elena Dumitra, Florin Grosu, Dan Georgian Bratu, Adrian Gheorghe Boicean, Liliana Coldea, Radu Chicea
BACKGROUND: Esophageal atresia (EA) is the most frequent and severe congenital anomaly of the esophagus, occurring in 1:2500-1:4500 live births. Five types of EA have been described, EA with tracheoesophageal fistula (TEF) being the most frequent. AIM: The aim of this paper is to evaluate epidemiological aspects, malformative associations, and prenatal diagnosis in an unusual case series of EA with distal TEF. CASE PRESENTATIONS: The authors are analyzing a series of seven cases of EA with distal TEF...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#17
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
No abstract text is available yet for this article.
December 12, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29198537/healthcare-utilization-and-comorbidities-associated-with-anorectal-malformations-in-the-united-states
#18
Karlo Kovacic, Sravan R Matta, Katja Kovacic, Casey Calkins, Ke Yan, Manu R Sood
OBJECTIVE: To determine nationwide prevalence and healthcare utilization in children with anorectal malformations and associated anomalies over a 6-year period. STUDY DESIGN: We used the Kids' Inpatient Database for the years 2006, 2009, and 2012 for data collection. International Classification of Diseases, Ninth Revision codes were used to identify patients with anorectal malformations and associated anomalies. RESULTS: A total of 2396 children <2 years of age with anorectal malformations were identified using weighted analysis; 54...
March 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29189693/practice-bulletin-no-187-neural-tube-defects
#19
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29189691/practice-bulletin-no-187-summary-neural-tube-defects
#20
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
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