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https://www.readbyqxmd.com/read/28531808/prenatal-diagnosis-of-biliary-atresia-a-case-series
#1
O Shen, H Y Sela, H Nagar, R Rabinowitz, E Jacobovich, D Chen, E Granot
BACKGROUND: Biliary atresia is a progressive disease presenting with jaundice, and is the most common indication for liver transplantation in the pediatric population. Prenatal series have yielded conflicting results concerning a possible association between BA and prenatal nonvisualization of the gallbladder. AIMS: This retrospective case series was performed to assess the association between biliary atresia, prenatal nonvisualization of the gallbladder and other sonographic signs...
May 19, 2017: Early Human Development
https://www.readbyqxmd.com/read/28530660/endoglin-prevents-vascular-malformation-by-regulating-flow-induced-cell-migration-and-specification-through-vegfr2-signalling
#2
Yi Jin, Lars Muhl, Mikhail Burmakin, Yixin Wang, Anne-Claire Duchez, Christer Betsholtz, Helen M Arthur, Lars Jakobsson
Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1, characterized by vascular malformations promoted by vascular endothelial growth factor A (VEGFA). How ENG deficiency alters EC behaviour to trigger these anomalies is not understood. Mosaic ENG deletion in the postnatal mouse rendered Eng LOF ECs insensitive to flow-mediated venous to arterial migration. Eng LOF ECs retained within arterioles acquired venous characteristics and secondary ENG-independent proliferation resulting in arteriovenous malformation (AVM)...
May 22, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28530642/rasa1-regulates-the-function-of-lymphatic-vessel-valves-in-mice
#3
Philip E Lapinski, Beth A Lubeck, Di Chen, Abbas Doosti, Scott D Zawieja, Michael J Davis, Philip D King
Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. How RASA1 mutations lead to the LV leakage defects that occur in CM-AVM is not understood. Here, we report that disruption of the Rasa1 gene in adult mice resulted in loss of LV endothelial cells (LECs) specifically from the leaflets of intraluminal valves in collecting LVs...
May 22, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28530252/new-trends-in-rehabilitation-of-children-with-ent-disorders
#4
R Bovo, P Trevisi, E Zanoletti, D Cazzador, T Volo, E Emanuelli, A Martini
In the last 20 years, neonatal survival has progressively increased due to the constant amelioration of neonatal medical treatment and surgical techniques. Thus, the number of children with congenital malformations and severe chronic pathologies who need rehabilitative care has progressively increased. Rehabilitation programs for paediatric patients with disorders of voice, speech and language, communication and hearing, deglutition and breathing are not widely available in hospital settings or in long-term care facilities...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28530159/curative-and-adjunctive-avm-onyx-embolization-of-avms-through-the-choroidal-arteries
#5
Xianli Lv, Xiulan Hu, Wei Li, Hongwei He, Chuhan Jiang, Youxiang Li
Objective The anterior or posterior choroidal artery is often recruited to supply deep location arteriovenous malformations (AVMs). This study is to report curative and adjunctive AVM Onyx embolization through these arteries. Methods This study retrospectively reviewed six patients with cerebral AVMs who underwent endovascular embolization through the choroidal arteries between October 2015 and October 2016. Embolization was performed as a curative procedure in five patients and adjunctive procedure in one patient...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28529809/aberrant-pancreatic-tissue-in-a-mediastinal-enteric-duplication-cyst-a-rarity-with-review-of-literature
#6
Meha Mansi, Nidhi Mahajan, Sonam Mahana, C R Gupta, Anup Mohta
Mediastinal enteric duplication cysts are a rare congenital malformation encountered mainly in neonates and infants. It is a distinct entity within the family of foregut duplication cysts. It can present with respiratory distress due to mass effect and hence surgical excision is the preferred treatment. Histologically, it is characterised by a double layered smooth muscle wall with intestinal lining epithelium. We report a case of mediastinal enteric duplication cyst with aberrant pancreatic tissue in a neonate due to its rarity and early presentation...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28529681/imaging-spectrum-of-spinal-dysraphism-on-magnetic-resonance-a-pictorial-review
#7
REVIEW
Jyoti Kumar, Muhammed Afsal, Anju Garg
Congenital malformations of spine and spinal cord are collectively termed as spinal dysraphism. It includes a heterogeneous group of anomalies which result from faulty closure of midline structures during development. Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for diagnosing these conditions. The purpose of this article is to review the normal development of spinal cord and spine and reviewing the MRI features of spinal dysraphism. Although imaging of spinal dysraphism is complicated, a systematic approach and correlation between neuro-radiological, clinical and developmental data helps in making the correct diagnosis...
April 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28528802/symptomatic-dengue-infection-during-pregnancy-and-livebirth-outcomes-in-brazil-2007-13-a-retrospective-observational-cohort-study
#8
Laura B Nascimento, Cláudio M Siqueira, Giovanini E Coelho, João B Siqueira
BACKGROUND: Dengue is a major public health challenge in Brazil. We assessed the relationship between symptomatic dengue infection during pregnancy and adverse birth outcomes in the country between 2007 and 2013. METHODS: We did a retrospective observational cohort study using information reported in the Brazilian national reportable disease information system (SINAN) and the livebirth information system (SINASC) databases. We probabilistically linked confirmed dengue-positive and dengue-negative pregnancies with live childbirths using Fine-Grained Record Integration and Linkage (FRIL) software...
May 18, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28528713/sociodemographics-and-the-impact-of-a-colostomy-to-indigent-families-and-children-with-colorectal-disorders-in-honduras
#9
W Krois, A J M Dingemans, P X Hernández, M L Metzelder, J Craniotis Rios, C A Reck-Burneo
INTRODUCTION: To describe the social impact of a colostomy on indigent families and affected children with anorectal malformations (ARM) or Hirschsprung's disease (HD) in San Pedro Sula, Honduras, we specifically targeted very low-income households that attended an international medical brigade for ARM and HD in 2016. METHODS: The impact of a colostomy on the families and children's daily life was analyzed by personal interviews with a questionnaire. RESULTS: Twenty families with children were included in the study...
May 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28528424/trps1-gene-alterations-in-human-subependymoma
#10
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, Donald A Ross, Karl Heinimann
Subependymoma is a rare primary brain tumor, constituting 0.07-0.51% of brain tumors. Genetic alterations in subependymoma are largely unknown, but familial occurrences have been reported. Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12. We report two patients with TRPS I and surgically treated subependymomas, one of whom has a first degree relative, now deceased, who was affected and also had a subependymoma...
May 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28528056/esophageal-bronchus
#11
Raghav Murthy, John Lamberti, Nicholas Saenz
Communicating bronchopulmonary foregut malformations are uncommon anomalies. This report describes a case of "esophageal bronchus" managed successfully in a newborn with a nearly total pneumonectomy.
June 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28527266/-risk-factors-associated-with-the-development-of-perinatal-asphyxia-in-neonates-at-the-hospital-universitario-del-valle-cali-colombia-2010-2011
#12
Javier Torres-Muñoz, Christian Rojas, Diana Mendoza-Urbano, Darly Marín-Cuero, Sandra Orobio, Carlos Echandía
INTRODUCTION: Perinatal asphyxia is one of the main causes of perinatal mortality and morbidity worldwide and it generates high costs for health systems; however, it has modifiable risk factors. OBJECTIVE: To identify the risk factors associated with the development of perinatal asphyxia in newborns at Hospital Universitario del Valle, Cali, Colombia. MATERIALS AND METHODS: Incident cases and concurrent controls were examined. Cases were defined as newborns with moderate to severe perinatal asphyxia who were older than or equal to 36 weeks of gestational age, needed advanced resuscitation and presented one of the following: early neurological disorders, multi-organ commitment or a sentinel event...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527203/value-of-different-ultrasound-elastography-techniques-in-patients-with-venous-malformations-prior-to-and-after-sclerotherapy
#13
V I Teusch, A P Piehler, W Uller, R Müller-Wille, L Prantl, C Stroszczynski, W A Wohlgemuth, E M Jung
AIM: Comparison of different ultrasound elastography techniques for detection of changes after sclerotherapy within venous malformations. MATERIAL AND METHODS: In patients with venous malformations sonography was executed at exactly the same position prior to and after ethanol-gel sclerotherapy. Both examinations included B-Mode, vascular sonography with Color-Coded Duplex Sonography, and additional sonography with different elastography techniques (strain, qualitative and quantitative Acoustic Radiation Force Impulse (ARFI) elastography) with a linear transducer (6-9 MHz)...
May 19, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28527177/rare-cause-of-type-2-respiratory-failure-arnold-chiari-malformation
#14
Divendu Bhushan
No abstract text is available yet for this article.
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28527081/chiari-malformation-type-1-related-headache-the-importance-of-a-multidisciplinary-study
#15
Marcella Curone, L G Valentini, I Vetrano, E Beretta, M- Furlanetto, L Chiapparini, A Erbetta, G Bussone
Chiari type 1 Malformation (CM 1) is a structural defect consisting of a displacement of the cerebellar tonsils through the foramen magnum causing obstruction of cerebrospinal fluid (CSF) outflow. CM 1 has a variety of presentation with headache being the most common symptom. The evaluation and treatment of headache related to CM 1 are often difficult, because the pain in the occipital-suboccipital region or headache that is of cough-type suggests symptomatic CM 1, but patients suffering from CM 1 can also report migraine or tension-type headache...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28527074/chiari-malformation-related-headache-outcome-after-surgical-treatment
#16
Elena Beretta, Ignazio G Vetrano, Marcella Curone, Luisa Chiapparini, Marika Furlanetto, Gennaro Bussone, Laura G Valentini
The outcome of headache in a series of 135 operated CM1 is presented. Favorable results were obtained in 85% of atypical and 93% typical headache with the support of a multidisciplinary approach that restricted the indications for surgery.
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28527042/parenting-stress-among-parents-of-children-with-congenital-diaphragmatic-hernia
#17
Elin Öst, Margret Nisell, Björn Frenckner, Carmen Mesas Burgos, Maria Öjmyr-Joelsson
PURPOSE: The aim of this study was to examine parental stress among parents of children with congenital diaphragmatic hernia (CDH). METHODS: Between 2005 and 2009, a total of 51 children with CDH were treated at Astrid Lindgren Children's Hospital. The survival rate at discharge was 86% and long-term survival rate 80%. One parent each of the long-term survivors (41 children) was included in the present study, and 34 parents (83%) agreed to participate. Participants received the Swedish Parenthood Stress Questionnaire (SPSQ)...
May 19, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28525927/differences-in-functional-outcome-across-subtypes-with-spetzler-martin-grade-ii-arteriovenous-malformations
#18
Alice L Hung, Wuyang Yang, Erick M Westbroek, Tomas Garzon-Muvdi, Justin M Caplan, Maria Braileanu, Joanna Y Wang, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Judy Huang
No abstract text is available yet for this article.
June 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28525911/putative-intravascular-myofibroma-mimicking-a-vascular-malformation-with-phleboliths
#19
Daniel M Klufas, Syril Keena T Que, Marti Rothe, Hanspaul S Makkar, Michael J Murphy
Myofibroma is a rare, benign myofibroblastic tumor that commonly presents at birth or in early infancy, usually as a painless, slow-growing, solitary, nodular mass. We present a case of a 40-year-old woman with a painful, solitary, myofibroma on the right elbow. The unique features of this case include age and gender of the patient, site, pain on presentation, tumor morphology, and putative intravascular nature of the tumor.
June 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28525635/multimodality-treatment-of-a-temporal-grade-ii-arteriovenous-malformation-operative-video
#20
Gary Rajah, Arianne Boylan, Mathew Schreckinger, Leonardo Rangel-Castilla
No abstract text is available yet for this article.
May 19, 2017: Operative Neurosurgery (Hagerstown, Md.)
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