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https://www.readbyqxmd.com/read/29352751/surgical-management-for-a-huge-presacral-teratoma-and-a-meningocele-in-an-adult-with-currarino-triad-a-case-report
#1
Shigenobu Emoto, Manabu Kaneko, Koji Murono, Kazuhito Sasaki, Kensuke Otani, Takeshi Nishikawa, Toshiaki Tanaka, Keisuke Hata, Kazushige Kawai, Hideaki Imai, Nobuhito Saito, Hiroshi Kobayashi, Sakae Tanaka, Masako Ikemura, Tetsuo Ushiku, Hiroaki Nozawa
BACKGROUND: The Currarino triad is a rare hereditary syndrome comprising anorectal malformation, sacral bony defect, and presacral mass. Most of the patients are diagnosed during infancy. CASE PRESENTATION: A 44-year-old man was diagnosed with Currarino triad, with a huge presacral teratoma and meningocele. One-stage surgery via posterior approach was successful. CONCLUSIONS: Treatment of the presacral mass in the Currarino triad, diagnosed in adulthood, is challenging...
January 19, 2018: Surgical Case Reports
https://www.readbyqxmd.com/read/29352651/catheter-injected-bone-marrow-mesenchymal-stem-cells-induce-efficacious-occlusion-of-arteriovenous-nidus-in-a-swine-model
#2
Joseph Touma, Jianping Dai, Andre Gaston, Marianne Gervais, Eric Allaire
OBJECTIVES: Arteriovenous malformations (AVMs) are complex vascular lesions. Surgical excision is the treatment of choice, but is often not achievable. Embolo-sclerotherapy alone is associated with high recurrence rates. This study tested the hypothesis that seeding hydrogel conditioned bone marrow derived mesenchymatous stem cells (BM-MSCs) in an AVM nidus model induces solid microvascular occlusion through endoluminal tissue growth. METHODS: AVMs were modelled as arteriovenous microvascular nidus, using swine rete mirabile, a plexiform intracranial structure composed of arterial microvessels that extensively anastomose...
January 15, 2018: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29352316/kansl1-variation-is-not-a-major-contributing-factor-in-self-limited-focal-epilepsy-syndromes-of-childhood
#3
Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We hypothesized that variants in KANSL1 contribute to pathogenesis of SFEC. MATERIALS AND METHODS: We screened KANSL1 for single nucleotide variants in 90 patients with SFEC...
2018: PloS One
https://www.readbyqxmd.com/read/29352135/blocking-zika-virus-vertical-transmission
#4
Pinar Mesci, Angela Macia, Spencer M Moore, Sergey A Shiryaev, Antonella Pinto, Chun-Teng Huang, Leon Tejwani, Isabella R Fernandes, Nicole A Suarez, Matthew J Kolar, Sandro Montefusco, Scott C Rosenberg, Roberto H Herai, Fernanda R Cugola, Fabiele B Russo, Nicholas Sheets, Alan Saghatelian, Sujan Shresta, Jeremiah D Momper, Jair L Siqueira-Neto, Kevin D Corbett, Patricia C B Beltrão-Braga, Alexey V Terskikh, Alysson R Muotri
The outbreak of the Zika virus (ZIKV) has been associated with increased incidence of congenital malformations. Although recent efforts have focused on vaccine development, treatments for infected individuals are needed urgently. Sofosbuvir (SOF), an FDA-approved nucleotide analog inhibitor of the Hepatitis C (HCV) RNA-dependent RNA polymerase (RdRp) was recently shown to be protective against ZIKV both in vitro and in vivo. Here, we show that SOF protected human neural progenitor cells (NPC) and 3D neurospheres from ZIKV infection-mediated cell death and importantly restored the antiviral immune response in NPCs...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29352118/pi3k-mtor-inhibition-promotes-the-regression-of-experimental-vascular-malformations-driven-by-pik3ca-activating-mutations
#5
Laura di Blasio, Alberto Puliafito, Paolo Armando Gagliardi, Valentina Comunanza, Desiana Somale, Giulia Chiaverina, Federico Bussolino, Luca Primo
Somatic activating mutations within the PIK3CA gene have been recently detected in sporadic lymphatic and venous malformations, and in vascular malformations (VM) associated to overgrowth syndromes, such as CLOVES and Klippel-Trenaunay syndrome. Although VM are often limited to specific tissue areas and can be well treated, in extended or recurrent lesions novel therapeutic approaches are needed. We generated a mouse model of VM by local expression of PIK3CA-activating mutation in endothelial cells. PIK3CA-driven lesions are characterized by large areas of hemorrhage, hyperplastic vessels, infiltrates of inflammatory cells, and elevated endothelial cell density...
January 19, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29352055/concomitant-conus-medullaris-arteriovenous-shunts-and-sacral-dural-arteriovenous-fistulas-pathophysiological-links-related-to-the-venous-drainage-of-the-lesions-in-a-series-of-five-cases
#6
Andrea Rosi, Arturo Consoli, Stéphanie Condette-Auliac, Oguzhan Coskun, Federico Di Maria, Georges Rodesch
BACKGROUND: Spinal cord arteriovenous shunts (scAVSs) are a group of lesions located in the spinal cord itself or in the surrounding structures. The most common scAVSs are spinal dural arteriovenous fistulas (sDAVFs), which are acquired lesions. The pathogenesis of sDAVFs involves thrombosis and venous hypertension as trigger factors. Intradural scAVSs such as spinal cord arteriovenous nidus type malformations (AVMs) and pial arteriovenous fistulas are less common than sDAVFs and are considered to have a so-called 'congenital' origin...
January 19, 2018: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29351932/megaduodenum-in-a-59-year-old-man-a-very-late-postoperative-complication-after-duodenal-atresia
#7
Jessica Rueff, Oliver Söllner, Markus Zuber, Benjamin Weixler
Intestinal malformations are common defects of the newborn, treated in experienced centres. Reports on long-term follow-up and associated complications are scarce, possibly leading to misinterpretation of clinical signs and symptoms in adulthood. To prevent treatment errors, it is important that physicians are aware of long-term complications of intestinal malformations.
January 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29351691/out-of-field-doses-in-children-treated-for-large-arteriovenous-malformations-using-hypofractionated-gamma-knife-radiosurgery-and-intensity-modulated-radiation-therapy
#8
Marijke De Saint-Hubert, Marija Majer, Hrvoje Hršak, Zdravko Heinrich, Željka Kneževic, Saveta Miljanic, Paulina Porwol, Liliana Stolarczyk, Filip Vanhavere, Roger M Harrison
The purpose of this study was to measure out-of-field organ doses in two anthropomorphic child phantoms for the treatment of large brain arteriovenous malformations (AVMs) using hypofractionated gamma knife (GK) radiosurgery and to compare these with an alternative treatment using intensity-modulated radiation therapy (IMRT). Target volume was identical in size and shape in all cases. Radiophotoluminescent (RPL), thermoluminescent (TL) and optically stimulated luminescent (OSL) dosimeters were used for out-of-field dosimetry during GK treatment and a good agreement within 1-2% between results was shown...
January 17, 2018: Radiation Protection Dosimetry
https://www.readbyqxmd.com/read/29351598/smooth-muscle-cells-of-intracranial-vessels-from-development-to-disease
#9
Juhana Frösen, Anne Joutel
Cerebrovascular diseases that cause ischemic or hemorrhagic stroke with subsequent loss of life or functional capacity due to damage of the brain tissue are among the leading causes of human suffering and economic burden inflicted by diseases in the developed world. Diseases affecting intracranial vessels are significant contributors to ischemic and hemorrhagic strokes. Brain arteriovenous malformations (bAVM), which are a collection of abnormal blood vessels connecting arteries to veins, are the most common cause of intracranial hemorrhage in children and young adults...
January 16, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29351114/sexual-and-reproductive-issues-and-inflammatory-bowel-disease-a-neglected-topic-in-men
#10
Mariangela Allocca, Daniela Gilardi, Gionata Fiorino, Federica Furfaro, Laurent Peyrin-Biroulet, Silvio Danese
There has been considerable literature on sexual issues in women with inflammatory bowel disease (IBD), but relatively little attention has been paid to these aspects in men. To review the available literature and to provide the best management of sexual and reproductive issues in male patients with IBD. The scientific literature on sexual and reproductive issues in men with IBD was reviewed. Several factors, including surgical and medication treatments, disease activity, lifestyle, and psychological factors, may play a role in the development of infertility and sexual dysfunction and may negatively impact pregnancy outcomes...
January 18, 2018: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29351043/congenital-midline-upper-lip-sinuses-3-rare-cases
#11
Jean-Daniel Kün-Darbois, Anne Chatellier, Arnaud Paré, Aude Caillot, Béatrice Ambroise, Hervé Bénateau, Alexis Veyssière
Congenital sinuses of the upper lip are rare congenital malformations. There have been only 40 cases described in the literature. We report 3 cases of congenital midline upper lip sinus in Caucasian children. Two of those lesions were associated with other anomalies (complete cleft palate and hemifacial macrosomia or submucous cleft palate with bifid uvula). The pathophysiology remains unexplained yet. Congenital upper lip sinuses can be considered as possible microforms of cleft-lips. Associated anomalies are frequent and must be sought...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29350689/safety-of-intravitreal-injection-of-ranibizumab-in-early-pregnancy-a-series-of-three-cases
#12
P Fossum, C Couret, B Briend, M Weber, L Lagarce
PurposeRanibizumab is used in the treatment of choroidal neovascularization (CNV). Although systemic exposure to ranibizumab is low after ocular administration, its mechanism of action must be regarded as potentially teratogenic and embryo-fetotoxic. Women are advised to wait 3 months after the last dose of treatment with ranibizumab before conceiving. Little is known about the fetal side-effects of this drug.MethodsThree pregnant women were treated with ranibizumab. One patient had idiopathic CNV.ResultsAfter receiving injections at 10 and 21 weeks after her last menstrual period (LMP), she gave birth to a healthy child...
January 19, 2018: Eye
https://www.readbyqxmd.com/read/29350590/human-genetics-and-molecular-mechanisms-of-vein-of-galen-malformation
#13
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29349967/-treatment-of-children-with-femoral-subtrochanteric-fractures-by-the-external-fixation-combined-with-single-hip-plaster
#14
Hu-Cheng Tan, Wei-Min Su, Cai-Sheng Zhou
OBJECTIVE: To explore curative effects of external fixation combined with single hip plaster in treating children with femoral subtrochanteric fracture. METHODS: Form March 2009 to July 2016, 15 children with femoral subtrochanteric fracture were treated with external fixation combined with single hip plaster, including 9 males and 6 females with a mean age of 8.5 years old ranging from 5 to 14 years old. According to fracture classification of Seinsheimer, 3 cases were type IIA, 4 cases were type IIB, 3 cases were type IIC, 2 cases were type IIIA, 1 case was type IIIB, 1 case was type IV, 1 case was type V...
March 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29349422/hybrid-management-of-a-ruptured-right-subclavian-artery-aneurysm-dissection
#15
David Drullinsky, Heather Gill, Jason P Bayne, Jean-Francois Morin, Daniel Obrand
Aberrant right subclavian artery is the most common congenital malformation of the aortic arch (0.4%-2.0%). Aneurysms of aberrant subclavian arteries are extremely rare. This results in little experience with their treatment. We describe a case of a patient who presented to the emergency department with a dissection of an aberrant right subclavian artery that later progressed to rupture. Besides hemodynamic instability, this caused an acute superior vena cava syndrome, making airway control difficult. In the operating room, we obtained proximal control through thoracic endovascular aortic repair; median sternotomy was performed for distal control and evacuation of massive hemomediastinum...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29349057/ectopic-preauricular-sinus-in-a-facial-cleft-and-microtia-patient
#16
Jae Yeon Park, Seil Lee, Hyo Joong Kim, Sung Gyun Jung
Preauricular sinus is a congenital malformation that is very commonly encountered among the general population and it has especially high prevalence among Asians when compared to other ethnic groups. It can often go unnoticed or easily overlooked by the patient or even by doctors because most of them are asymptomatic and is most of the time only a tiny pit that can be trivial in terms of aesthetics. We report a very rare and unique case that has no precedence what so ever; hence no reported case in the literature: an ectopic preauricular sinus in a facial cleft and microsomia patient...
December 2017: Archives of Craniofacial Surgery
https://www.readbyqxmd.com/read/29348301/predicting-the-presence-of-macrovascular-causes-in-non-traumatic-intracerebral-haemorrhage-the-diagram-prediction-score
#17
Nina A Hilkens, Charlotte J J van Asch, David J Werring, Duncan Wilson, Gabriël J E Rinkel, Ale Algra, Birgitta K Velthuis, Gérard A P de Kort, Theo D Witkamp, Koen M van Nieuwenhuizen, Frank-Erik de Leeuw, Wouter J Schonewille, Paul L M de Kort, Diederik W J Dippel, Theodora W M Raaymakers, Jeannette Hofmeijer, Marieke J H Wermer, Henk Kerkhoff, Korné Jellema, Irene M Bronner, Michel J M Remmers, Henri Paul Bienfait, Ron J G M Witjes, H Rolf Jäger, Jacoba P Greving, Catharina J M Klijn
OBJECTIVE: A substantial part of non-traumatic intracerebral haemorrhages (ICH) arises from a macrovascular cause, but there is little guidance on selection of patients for additional diagnostic work-up. We aimed to develop and externally validate a model for predicting the probability of a macrovascular cause in patients with non-traumatic ICH. METHODS: The DIagnostic AngioGRAphy to find vascular Malformations (DIAGRAM) study (n=298; 69 macrovascular cause; 23%) is a prospective, multicentre study assessing yield and accuracy of CT angiography (CTA), MRI/ magnetic resonance angiography (MRA) and intra-arterial catheter angiography in diagnosing macrovascular causes in patients with non-traumatic ICH...
January 18, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29348284/laryngeal-tuberculosis-a-rare-cause-of-critical-airway-obstruction
#18
Abigail Elizabeth Cole, Daniel Heaton, Ahmed Chekairi
Laryngeal tuberculosis (TB) is a rare condition, occurring in less than 1% of patients infected with pulmonary TB. We present a case of a 57-year-old male patient, who presented in extremis with audible stridor, increased work of breathing and cyanosis. In addition, the patient had a complex medical history, including a recent diagnosis of congenital malformation of the epiglottis. Emergency intervention was required to secure the airway, and after initial attempts at intubation were unsuccessful, an emergency tracheostomy was performed...
January 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29348075/benzalkonium-chloride-benzethonium-chloride-and-chloroxylenol-three-replacement-antimicrobials-are-more-toxic-than-triclosan-and-triclocarban-in-two-model-organisms
#19
Virinchipuram S Sreevidya, Kade A Lenz, Kurt R Svoboda, Hongbo Ma
With the recent ban of triclosan (TCS) and triclocarban (TCC) from some personal care products, many replacement antimicrobial compounds have been used. Yet the potential health risk and environmental impact of these replacement compounds are largely unknown. Here we investigated the toxicological effects of three commonly used replacement antimicrobials, benzalkonium chloride (BAC), benzethonium chloride (BEC), and chloroxylenol (CX) to two model organisms, the nematode C. elegans and zebrafish (Danio rerio), and compared them to the banned TCS and TCC...
January 15, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29346650/persistence-of-zika-virus-after-birth-clinical-virological-neuroimaging-and-neuropathological-documentation-in-a-5-month-infant-with-congenital-zika-syndrome
#20
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
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