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https://www.readbyqxmd.com/read/28176385/financial-and-clinical-outcomes-of-extracorporeal-mechanical-support
#1
Ryan Chiu, Eric Pillado, Sohail Sareh, Kim De La Cruz, Richard J Shemin, Peyman Benharash
BACKGROUND: Over the past decade, extracorporeal mechanical support (ECMO) has been increasingly utilized in respiratory failure and cardiogenic shock. There is a need for assessing clinical and financial outcomes of ECMO use. This study presents our institution's experience with veno-arterial ECMO (VA-ECMO) over a 9-year period. METHODS: A retrospective review of our institution's ECMO database identified patients undergoing VA-ECMO between 2005 and 2013 (N = 150)...
February 8, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28165338/the-chromatin-remodeling-factor-chd7-controls-cerebellar-development-by-regulating-reelin-expression
#2
Danielle E Whittaker, Kimberley L H Riegman, Sahrunizam Kasah, Conor Mohan, Tian Yu, Blanca Pijuan Sala, Husam Hebaishi, Angela Caruso, Ana Claudia Marques, Caterina Michetti, María Eugenia Sanz Smachetti, Apar Shah, Mara Sabbioni, Omer Kulhanci, Wee-Wei Tee, Danny Reinberg, Maria Luisa Scattoni, Holger Volk, Imelda McGonnell, Fiona C Wardle, Cathy Fernandes, M Albert Basson
The mechanisms underlying the neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic features, have not been identified. CHARGE syndrome has been associated with mutations in the gene encoding the ATP-dependent chromatin remodeler CHD7. CHD7 is expressed in neural stem and progenitor cells, but its role in neurogenesis during brain development remains unknown. Here we have shown that deletion of Chd7 from cerebellar granule cell progenitors (GCps) results in reduced GCp proliferation, cerebellar hypoplasia, developmental delay, and motor deficits in mice...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28160409/developing-a-charge-syndrome-checklist-health-supervision-across-the-lifespan-from-head-to-toe
#3
Carrie-Lee Trider, Angela Arra-Robar, Conny van Ravenswaaij-Arts, Kim Blake
Health supervision and management considerations for individuals with CHARGE syndrome are often complex, and a comprehensive approach is essential. The Atlantic Canadian CHARGE syndrome team developed a checklist organized by body system and age to aid healthcare providers in their approach to the ongoing care of these individuals. The checklist was evaluated qualitatively using a modified Delphi method with widespread consultation from expert healthcare practitioners, parents, and individuals with CHARGE syndrome...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28155231/charge-syndrome-gastrointestinal-involvement-from-mouth-to-anus
#4
REVIEW
A Hudson, M Macdonald, J N Friedman, K Blake
CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28143957/insights-into-the-pathological-mechanisms-of-p85%C3%AE-mutations-using-a-yeast-based-phosphatydilinositol-3-kinase-model
#5
María D Oliver, Teresa Fernández-Acero, Sandra Luna, Isabel Rodríguez-Escudero, María Molina, Rafael Pulido, Victor J Cid
In higher eukaryotes, cell proliferation is regulated by class I phosphatidylinositol 3-kinase (PI3K), which transduces stimuli received from neighboring receptors by local generation of PtdIns(3,4,5)P3 in cellular membranes. PI3K is a heterodimeric protein consisting of a regulatory and a catalytic subunit (p85 and p110, respectively). Heterologous expression of p110a in S. cerevisiae leads to toxicity by conversion of essential PtdIns(4,5)P2 into futile PtdIns(3,4,5)P3, providing a humanized yeast model for functional studies on this pathway...
January 31, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28128060/proteoglycans-and-diabetes
#6
Linda Hiebert
BACKGROUND: Most proteoglycans are heterogeneous molecules composed of a protein core with glycosaminoglycans (GAGs) attached. GAGs are highly negatively charged molecules that readily bind to enzymes, growth factors, cytokines etc. and as such have many functions. The role played by proteoglycans in diabetes has only recently been investigated. METHODS: The importance of proteoglycans and the effects of diabetes on proteoglycans are discussed. Possible strategies for reducing diabetic complications associated with preventing proteoglycan destruction are examined...
January 25, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28094189/medicaid-payer-status-is-linked-to-increased-rates-of-complications-after-treatment-of-proximal-humerus-fractures
#7
Vani J Sabesan, Graysen Petersen-Fitts, Daniel Lombardo, Daniel Briggs, James Whaley
BACKGROUND: Low socioeconomic status and Medicaid insurance as a primary payer have been associated with major disparities in resource utilization and risk-adjusted outcomes for patients undergoing total joint arthroplasty. With the expansion of Medicaid through the Affordable Care Act in 2014, examination of these disparities has become increasingly relevant for the treatment of proximal humerus fracture (PHF). METHODS: The Healthcare Cost and Utilization Project Nationwide Inpatient Sample database was used to identify patients who were treated for PHF from 2002 to 2012...
January 13, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28089346/detection-of-unusual-very-long-chain-fatty-acid-and-ether-lipid-derivatives-in-the-fibroblasts-and-plasma-of-patients-with-peroxisomal-diseases-using-liquid-chromatography-mass-spectrometry
#8
Shigeo Takashima, Kayoko Toyoshi, Takahiro Itoh, Naomi Kajiwara, Ayako Honda, Akiko Ohba, Shoko Takemoto, Satoshi Yoshida, Nobuyuki Shimozawa
Metabolic changes occur in patients with peroxisomal diseases owing to impairments in the genes involved in peroxisome function. For diagnostic purposes, saturated very-long-chain fatty acids (VLCFAs) such as C24:0 and C26:0, phytanic acid, pristanic acid, and plasmalogens are often measured as metabolic hallmarks. As the direct pathology of peroxisomal disease is yet to be fully elucidated, we sought to explore the fatty acid species that accumulate in patients with peroxisomal diseases. We developed a method for detecting a range of fatty acids implicated in peroxisomal diseases such as Zellweger syndrome (ZS) and X-linked adrenoleukodystrophy (X-ALD)...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28063531/traitements-visant-la-vessie-hyperactive-accent-sur-la-pharmacoth%C3%A3-rapie
#9
Roxana Geoffrion
OBJECTIF: Offrir des lignes directrices en matière de pharmacothérapie pour la prise en charge du syndrome de la vessie hyperactive (VHA). OPTIONS: Parmi les agents pharmacothérapeutiques permettant la prise en charge du VHA, on trouve les anticholinergiques (antimuscariniques) et les œstrogènes administrés par voie vaginale. Des préparations anticholinergiques orales et transdermiques sont disponibles. ISSUES: Fournir une compréhension des données actuellement disponibles au sujet de l'innocuité et de l'efficacité clinique de la pharmacothérapie dans la prise en charge du VHA; orienter la sélection du traitement anticholinergique en fonction des caractéristiques personnelles des patientes...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#10
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28050780/clinical-characteristics-comorbidities-and-hospital-outcomes-in-hospitalizations-with-cyclic-vomiting-syndrome-a-nationwide-analysis
#11
Sanjay Bhandari, Thangam Venkatesan
BACKGROUND: Data on cyclic vomiting syndrome (CVS) are limited to studies from tertiary care centers. There is a paucity of information about CVS on a national scale. AIM: To study the clinical characteristics, comorbidities, and hospital outcomes in patients hospitalized with CVS using a nationwide database. METHODS: We identified all hospitalizations associated with a primary diagnosis of CVS in 2010 and 2011 using the Nationwide Inpatient Sample with an age category of 18-55 years...
January 3, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28044040/charge-syndrome
#12
EDITORIAL
Alexandra Hudson, Carrie-Lee Trider, Kim Blake
No abstract text is available yet for this article.
January 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28005025/-acquired-immunodeficiency-syndrome-in-russia
#13
V V Pokrovsky
In 2015, the infection caused by human immunodeficiency virus (HIV) (HIV infection) dominated among life-threatening infections in Russians: it was first diagnosed in 98,177 Russians and 15,530 citizens of the Russian Federation died from HIV/AIDS, amounting to 45% of all deaths from infectious diseases in Russia. By the mid-2016, there were a total of 1,062,476 identified HIV-positive Russians, of whom 225,992 people died. The estimated number of HIV-infected patients in Russia approximated to 1% of the population, the highest prevalence of HIV being found in the age group of 30-40 years...
2016: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28001909/neudose-a-cubesat-mission-for-dosimetry-of-charged-particles-and-neutrons-in-low-earth-orbit
#14
A R Hanu, J Barberiz, D Bonneville, S H Byun, L Chen, C Ciambella, E Dao, V Deshpande, R Garnett, S D Hunter, A Jhirad, E M Johnston, M Kordic, M Kurnell, L Lopera, M McFadden, A Melnichuk, J Nguyen, A Otto, R Scott, D L Wagner, M Wiendels
During space missions, astronauts are exposed to a stream of energetic and highly ionizing radiation particles that can suppress immune system function, increase cancer risks and even induce acute radiation syndrome if the exposure is large enough. As human exploration goals shift from missions in low-Earth orbit (LEO) to long-duration interplanetary missions, radiation protection remains one of the key technological issues that must be resolved. In this work, we introduce the NEUtron DOSimetry & Exploration (NEUDOSE) CubeSat mission, which will provide new measurements of dose and space radiation quality factors to improve the accuracy of cancer risk projections for current and future space missions...
January 2017: Radiation Research
https://www.readbyqxmd.com/read/27991736/kmt2d-p-gln3575his-segregating-in-a-family-with-autosomal-dominant-choanal-atresia-strengthens-the-kabuki-charge-connection
#15
Lauren Badalato, Sali M K Farhan, Allison A Dilliott, Dennis E Bulman, Robert A Hegele, Sharan L Goobie
Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27974985/anomalous-origin-of-the-left-common-carotid-artery-from-the-main-pulmonary-artery-a-rare-association-in-an-infant-with-charge-syndrome
#16
Onyekachukwu Osakwe, Blaise Jones, Russel Hirsch
Case Report. Isolated carotid artery originating from the pulmonary trunk is an exceedingly rare anomalous origin of head and neck vessels. We present this finding, along with a persistent embryonic trigeminal artery, in a male infant with multiple cardiac defects and other congenital anomalies associated with CHARGE syndrome. After extensive investigations, cardiac catheterization revealed the anomalous left common carotid artery arising from the cranial aspect of the main pulmonary artery. There was retrograde flow in this vessel, resulting from the lower pulmonary pressure, essentially stealing arterial supply from the left anterior cerebral circulation...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27974108/-screening-and-identification-of-apolipoprotein-a-i-as-a-potential-marker-for-hepatoblastoma-in-children
#17
Li-Hua Guo, Wei Zhao, Jun-Jie Zhang, Qian Zhang, Ying-Zhong Fan, Jia-Xiang Wang
OBJECTIVE: To screen and identify serum biomarkers for childhood hepatoblastoma (HB). METHODS: The serum samples from 30 children with hepatoblastoma (HB), 20 children with systemic inflammatory response syndrome, and 20 normal children were treated with magnetic bead-based weak cation exchange chromatography. The platform of surface-enhanced laser desorption/ionization-time of flight-mass spectrometry (SELDI-TOF-MS) was used to eliminate the interference of inflammatory factors and to screen out the differentially expressed proteins in serum between tumor group and normal group...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27957375/cardiovascular-malformations-in-charge-syndrome-with-digeorge-phenotype-two-case-reports
#18
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27909936/disability-depression-diagnosis-and-harm-reflections-on-two-personal-scenarios
#19
G Thomas Couser
In this article I draw on two scenarios from my personal life-the diagnosis of my newborn grandnephew with CHARGE syndrome and the diagnosis of my father with depression-to reflect on whether and when diagnosis may be harmful to patients (and their families). Despite the great differences between the two scenarios, I argue that in both cases the tendency of diagnosis to generalize, categorize, and stigmatize can lead to insidious and counterproductive effects. The perspective of disability studies can help physicians to anticipate, minimize or avoid these negative ramifications...
December 1, 2016: Journal of Medical Humanities
https://www.readbyqxmd.com/read/27907936/early-treatment-for-neonatal-abstinence-syndrome-a-palliative-approach
#20
Jennifer Hudson, Rachel Mayo, Lori Dickes, Liwei Chen, Windsor Westbrook Sherrill, Julie Summey, Bradley Dalton, Kindal Dankovich
Objective To describe medical, safety, and health care utilization outcomes associated with an early treatment model for neonatal opioid withdrawal. Study Design This is a retrospective review of 117 opioid-exposed infants born in a large regional hospital and treated in the level I nursery with methadone initiated within 48 hours of birth. Results For this cohort, mean length of stay was 8.3 days. Hospital safety events were infrequent; there were no medication errors or deaths. Within 30 days of discharge, 14% of infants visited the emergency department; 7% were readmitted...
December 1, 2016: American Journal of Perinatology
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