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https://www.readbyqxmd.com/read/28214917/mtss1-promotes-maturation-and-maintenance-of-cerebellar-neurons-via-splice-variant-specific-effects
#1
Thorsten Sistig, Fanziska Lang, Sebastian Wrobel, Stephan L Baader, Karl Schilling, Britta Eiberger
Efficient coupling of the actin cytoskeleton to the cell membrane is crucial for histogenesis and maintenance of the nervous system. At this critical interface, BAR (Bin-Amphiphysin-Rvs) proteins regulate membrane bending, shown to be instrumental for mobility and morphogenesis of individual cells. Yet, the systemic significance of these proteins remains largely unexplored. Here, we probe the role of a prominent member of this protein family, the inverse-BAR protein Mtss1, for the development and function of a paradigmatic neuronal circuit, the cerebellar cortex...
February 18, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28214734/developmental-toxicity-and-molecular-responses-of-marine-medaka-oryzias-melastigma-embryos-to-ciguatoxin-p-ctx-1-exposure
#2
Meng Yan, Priscilla T Y Leung, Jack C H Ip, Jin-Ping Cheng, Jia-Jun Wu, Jia-Rui Gu, Paul K S Lam
Ciguatoxins are produced by toxic benthic dinoflagellates and cause ciguatera fish poisoning worldwide, but the toxic effects on developing marine fish have not been well investigated. The Pacific ciguatoxin (P-CTX-1), is a potent sodium channel agonist, which is one of the most toxic members among all CTXs. This study evaluated the toxic effects of microinjecting purified Pacific ciguatoxin-1 (P-CTX-1) on embryonic development of marine medaka Oryzias melastigma. A lower 96h-LD50 value was estimated for eleuthero-embryos (1...
February 10, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28213819/conditional-knockout-of-activin-like-kinase-1-alk-1-leads-to-heart-failure-without-maladaptive-remodeling
#3
Kevin J Morine, Xiaoying Qiao, Vikram Paruchuri, Mark J Aronovitz, Emily E Mackey, Lyanne Buiten, Jonathan Levine, Keshan Ughreja, Prerna Nepali, Robert M Blanton, Richard H Karas, S Paul Oh, Navin K Kapur
Activin like kinase-1 (AlK-1) mediates signaling via the transforming growth factor beta (TGFβ) family of ligands. AlK-1 activity promotes endothelial proliferation and migration. Reduced AlK-1 activity is associated with arteriovenous malformations. No studies have examined the effect of global AlK-1 deletion on indices of cardiac remodeling. We hypothesized that reduced levels of AlK-1 promote maladaptive cardiac remodeling. To test this hypothesis, we employed AlK-1 conditional knockout mice (cKO) harboring the ROSA26-CreER knock-in allele, whereby a single dose of intraperitoneal tamoxifen triggered ubiquitous Cre recombinase-mediated excision of floxed AlK-1 alleles...
February 17, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28213627/real-time-mri-guided-percutaneous-sclerotherapy-of-low-flow-head-and-neck-lymphatic-malformations-in-the-pediatric-population-a-stepwise-approach
#4
Sasan Partovi, Lorenna Vidal, Ziang Lu, Dean A Nakamoto, Ji Buethe, Mark Clampitt, Michael Coffey, Indravadan J Patel
Real-time MRI-guided percutaneous sclerotherapy is a novel and evolving treatment for congenital lymphatic malformations in the head and neck. We elaborate on the specific steps necessary to perform an MRI-guided percutaneous sclerotherapy of lymphatic malformations including pre-procedure patient work-up and preparation, stepwise intraprocedural interventional techniques and post-procedure management. Based on our institutional experience, MRI-guided sclerotherapy with a doxycycline-gadolinium-based mixture as a sclerosant for lymphatic malformations of the head and neck region in children is well tolerated and effective...
February 17, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28213462/discovery-diagnosis-and-etiology-of-craniofacial-ciliopathies
#5
Elizabeth N Schock, Samantha A Brugmann
Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that ∼30% of ciliopathies could be primarily defined by their craniofacial phenotype. The link between the cilium and the face has proven significant, as several new "craniofacial ciliopathies" have recently been diagnosed...
February 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28213195/blunt-traumatic-brain-injury-patients-a-role-for-ct-angiography-of-the-head-to-evaluate-non-traumatic-etiologies
#6
REVIEW
Ha Nguyen, Ninh Doan, Michael Gelsomino, Saman Shabani
BACKGROUND: In the setting of trauma, the etiology of intracranial hemorrhage (ICH) is frequently attributed to the physical, traumatic event. Caution should still be directed towards non-traumatic (or spontaneous) etiologies responsible for the trauma, such as hypertension, cerebral amyloid angiopathy, aneurysms, vascular malformation, and hemorrhagic infarcts. The role for immediate CT angiography (CTA) remains controversial to evaluate for non-traumatic etiologies. METHODS: A systematic review of the available literature in Medline PubMed database...
February 14, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28212902/intrauterine-valproate-exposure-is-associated-with-alterations-in-hippocampal-cell-numbers-and-folate-metabolism-in-a-rat-model-of-valproate-teratogenicity
#7
Alexander Semmler, Christian Frisch, Christiane Bleul, Desiree Smith, Laurent Bigler, Jean-Christophe Prost, Henk Blom, Michael Linnebank
PURPOSE: Valproate is one of the most commonly used anticonvulsive drugs. Despite its significant benefits, the teratogenicity of valproate is a relevant problem in the treatment of women of childbearing age. In addition to major congenital malformations, such as neural tube defects, reduced intelligence and attention after intrauterine valproate exposure are reported. Until now the mechanisms of teratogenicity of VPA are poorly understood and concepts how to reduce valproate teratogenicity are lacking...
January 27, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28212403/cerebrospinal-fluid-biomarkers-of-infantile-congenital-hydrocephalus
#8
David D Limbrick, Brandon Baksh, Clinton D Morgan, Gakwaya Habiyaremye, James P McAllister, Terrie E Inder, Deanna Mercer, David M Holtzman, Jennifer Strahle, Michael J Wallendorf, Diego M Morales
INTRODUCTION: Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value...
2017: PloS One
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#9
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana
PURPOSE OF REVIEW: Endothelial cells dysfunctions are crucial determinants of several human diseases. We review here the most recent reports on endothelial cell defects in cerebral cavernous malformations (CCMs), particularly focusing on adherens junctions. CCM is a vascular disease that affects specifically the venous microvessels of the central nervous system and which is caused by loss-of-function mutation in any one of the three CCM genes (CCM1, 2 or 3) in endothelial cells. The phenotypic result of these mutations are focal vascular malformations that are permeable and fragile causing neurological symptoms and occasionally haemorrhagic stroke...
February 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28211990/homozygous-mutation-in-prune1-in-an-oji-cree-male-with-a-complex-neurological-phenotype
#10
Gregory Costain, Andrea Shugar, Pradeep Krishnan, Saadet Mahmutoglu, Suzanne Laughlin, Peter Kannu
The PRUNE1 gene encodes a member of the phosphoesterases (DHH) protein superfamily that is highly expressed in the human fetal brain and involved in the regulation of cell migration. Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. We present a case of a 2-year-old male with a complex neurological phenotype and abnormalities on brain MRI. Re-annotation of clinical whole-exome sequencing data revealed a homozygous likely pathogenic variant in PRUNE1 (c...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#11
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#12
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211911/three-dimensional-printing-of-calcium-sulfate-and-mesoporous-bioactive-glass-scaffolds-for-improving-bone-regeneration-in-vitro-and-in-vivo
#13
Xin Qi, Peng Pei, Min Zhu, Xiaoyu Du, Chen Xin, Shichang Zhao, Xiaolin Li, Yufang Zhu
In the clinic, bone defects resulting from infections, trauma, surgical resection and genetic malformations remain a significant challenge. In the field of bone tissue engineering, three-dimensional (3D) scaffolds are promising for the treatment of bone defects. In this study, calcium sulfate hydrate (CSH)/mesoporous bioactive glass (MBG) scaffolds were successfully fabricated using a 3D printing technique, which had a regular and uniform square macroporous structure, high porosity and excellent apatite mineralization ability...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211887/germline-mutations-predisposing-to-diffuse-large-b-cell-lymphoma
#14
REVIEW
O C Leeksma, N F de Miranda, H Veelken
Genetic studies of diffuse large B-cell lymphomas (DLBCLs) in humans have revealed numerous targets of somatic mutations and an increasing number of potentially relevant germline alterations. The latter often affect genes involved in DNA repair and/or immune function. In general, defects in these genes also predispose to other conditions. Knowledge of these mutations can lead to disease-preventing measures in the patient and relatives thereof. Conceivably, these germline mutations will be taken into account in future therapy of the lymphoma...
February 17, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28211814/are-major-dementias-triggered-by-poor-blood-flow-to-the-brain-theoretical-considerations
#15
Jack C de la Torre
There is growing evidence that chronic brain hypoperfusion plays a central role in the development of Alzheimer's disease (AD) long before dyscognitive symptoms or amyloid-β accumulation in the brain appear. This commentary proposes that dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and Creutzfeldt-Jakob disease (CJD) may also develop from chronic brain hypoperfusion following a similar but not identical neurometabolic breakdown as AD. The argument to support this conclusion is that chronic brain hypoperfusion, which is found at the early stages of the three dementias reviewed here, will reduce oxygen delivery and lower oxidative phosphorylation promoting a steady decline in the synthesis of the cell energy fuel adenosine triphosphate (ATP)...
February 15, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28211287/efficacy-analysis-of-a-novel-sternoclavicular-hook-plate-for-treatment-of-unstable-sternoclavicular-joint-dislocation-or-fracture
#16
Chuanyi Zhang, Lie Lin, Junbo Liang, Bin Wang, Guofu Chen, Haixiao Chen
PURPOSE: Sternoclavicular joint is an amphiarthrodial joint formed by the clavicle and sternal manubrium. This joint becomes chronically unstable in case of a medial clavicle dislocation or fracture, and improper treatment could cause malformation and pain. We aimed to determine the efficacy of a novel sternoclavicular hook plate for treatment of unstable sternoclavicular joint dislocation or fracture. METHODS: Between June 2011 and December 2013, the sternoclavicular hook plate was used to surgically treat 32 adult patients with unstable sternoclavicular joint dislocation or fracture...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28210801/patient-radiation-doses-and-reference-levels-in-pediatric-interventional-radiology
#17
Bouchra Habib Geryes, Adeline Bak, Julie Lachaux, Augustin Ozanne, Nathalie Boddaert, Francis Brunelle, Olivier Naggara, Guillaume Saliou
OBJECTIVES: To describe, in a multicentric paediatric population, reference levels (RLs) for three interventional radiological procedures. METHODS: From January 2012 to March 2015, children scheduled for an interventional radiological procedure in two French tertiary centres were retrospectively included and divided into four groups according to age: children younger than 2 years (A1), aged 2-7 years (A5), 8-12 years (A10) and 13-18 years (A15). Three procedures were identified: cerebral digital subtraction angiography (DSA), brain arteriovenous malformation (bAVM) embolization, and head and neck superficial vascular malformation (SVM) percutaneous sclerotherapy...
February 16, 2017: European Radiology
https://www.readbyqxmd.com/read/28210642/high-output-heart-failure-contributing-to-recurrent-epistaxis-kiesselbach-area-syndrome-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#18
Venugopal Brijmohan Bhattad, Jennifer N Bowman, Hemang B Panchal, Timir K Paul
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210562/a-rare-cause-of-intermittent-respiratory-distress-and-epiphora-in-the-newborn-congenital-dacryocystocele
#19
Onur Ismi, Fatma Merve Bozkurt, Gokhan Icme, Can Eti, Ayca Sari
Congenital dacryocystocele is a malformation of the nasolacrimal system. Most of the cases can be successfully treated with conservative treatment options such as sac massage. Congenital dacryocystoceles with concomitant intranasal cysts causing respiratory distress in the newborns are rarely published. In this case report we presented a 2-week-old newborn with bilateral congenital dacryocystoceles causing intermittent respiratory distress. We discuss the importance of nasal endoscopic treatment and multidisciplinary approach for these rare malformations in the light of the current literature...
February 2017: Gland Surgery
https://www.readbyqxmd.com/read/28210412/reconstruction-of-a-combined-maxillectomy-and-segmental-mandibulectomy-defect-in-a-seven-year-old-with-a-single-free-fibula-osteocutaneous-flap
#20
Shawn T Joseph, Krishnakumar Thankappan, Subramania Iyer
Combined upper alveolectomy and segmental mandibulectomy are complex defects. Reconstruction of these defects is usually suboptimal. We describe the case of a pediatric patient with vessel-depleted neck with recurrent vascular malformation involving the ramus and coronoid process of mandible and a previous history of maxillectomy and a reconstruction with anterolateral thigh flap. The patient underwent wide resection. The defects involving the upper alveolus and mandible were simultaneously reconstructed with a single free fibula flap...
March 2017: Craniomaxillofacial Trauma & Reconstruction
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