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https://www.readbyqxmd.com/read/29761372/outcomes-of-takotsubo-cardiomyopathy-in-hospitalized-cancer-patients
#1
Parijat Saurav Joy, Achuta Kumar Guddati, Iuliana Shapira
BACKGROUND: Chemotherapy-induced cardiomyopathy is a critical complication of treatment for cancer. The emotional stress of a cancer diagnosis, ongoing chemotherapy, abnormal cancer-related wasting syndrome may contribute to cardiac morbidity in these patients. The burden of Takotsubo Cardiomyopathy (TCM) in cancer patients is unknown. The incidence of TCM and related outcomes in cancer patients was investigated in this study. METHODS: The 2007-2013 National Inpatient Sample (NIS) was analyzed for patients with a prior and new diagnosis of TCM with and without malignancy...
May 14, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29754202/regional-differences-in-cost-and-length-of-stay-in-neonates-with-hypoplastic-left-heart-syndrome
#2
Luma Essaid, Paula D Strassle, Eric G Jernigan, Jennifer S Nelson
Hypoplastic left heart syndrome (HLHS) is a highly resource-intensive diagnosis. Geographic variation in cost and length of stay (LOS) in HLHS is not well described. Neonates diagnosed with HLHS between 2000 and 2012 were identified using the Kids' Inpatient Database. Hospitalizations were stratified into two groups: (1) birth and (2) secondary. United States regional differences in hospital charges and LOS were compared using adjusted linear regression. Of 2431 birth hospitalizations, 449 neonates (18.5%) died while inpatient and mortality rates differed by region (p = 0...
May 12, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29754115/delusional-misidentifications-in-a-procrustean-bed
#3
EDITORIAL
G N Christodoulou, M Margariti, N Christodoulou
The Delusional Misidentification Syndromes (DMSs) are characterized by defective integration of the normally The Delusional Misidentification Syndromes (DMSs) are characterized by defective integration of the normally fused functions of perception and recognition. The classical sub-types are: the syndromes of Capgras, Fregoli,Intermetamorphosis (mentioned in 3) and Subjective doubles. These syndromes occur in a clear sensorium and shouldbe differentiated from the banal transient misidentifications occurring in confusional states and in mania and from thenon-delusional misidentifications (e...
January 2018: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/29753960/effect-of-obesity-on-biodistribution-of-nanoparticles
#4
Claudiana de Jesus Felismino, Edward Helal-Neto, Filipe Leal Portilho, Suyene Rocha Pinto, Félix Sancenón, Ramón Martínez-Máñez, Agatha de Assis Ferreira, Simone Vargas da Silva, Thereza Christina Barja-Fidalgo, Ralph Santos-Oliveira
Nanoparticles have specific features (lipophilicity, surface charge, composition and size). Studies regarding the biological behavior of nanoparticles in diseases such diabetics and obesity are scarce. Here, we evaluated two nanoparticles: magnetic core mesoporous silica (MSN) (58 nm) and polycaprolactone (PCL) nanoparticle (280 nm) in obese mice. Changes in the biodistribution were observed, especially considering the mononuclear phagocyte system (MPS), and the visceral fat tissue. Nonetheless, our data corroborates the influence of size in the biodistribution in obese animals, supporting that smaller nanoparticles, may show a higher tissue deposition at spleen, due the associated splenomegaly and the complications arising from this state...
May 10, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29740196/quality-improvement-initiative-to-improve-inpatient-outcomes-for-neonatal-abstinence-syndrome
#5
Elisha M Wachman, Matthew Grossman, Davida M Schiff, Barbara L Philipp, Susan Minear, Elizabeth Hutton, Kelley Saia, Fnu Nikita, Ahmad Khattab, Angela Nolin, Crystal Alvarez, Karan Barry, Ginny Combs, Donna Stickney, Jennifer Driscoll, Robin Humphreys, Judith Burke, Camilla Farrell, Hira Shrestha, Bonny L Whalen
OBJECTIVES: To improve Neonatal Abstinence Syndrome (NAS) inpatient outcomes through a comprehensive quality improvement (QI) program. DESIGN: Inclusion criteria were opioid-exposed infants ≥36 weeks. QI methodology including stakeholder interviews and plan-do-study-act (PDSA) cycles were utilized. We compared pre- and post-intervention NAS outcomes after a QI initiative that included: A non-pharmacologic care bundle, function-based assessments consisting of symptom prioritization and then the "Eat, Sleep, Console" (ESC) Tool; and a switch to methadone for pharmacologic treatment...
May 8, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29691127/digenic-heterozigosity-in-scn5a-and-cacna1c-explains-the-variable-expressivity-of-the-long-qt-phenotype-in-a-spanish-family
#6
Paloma Nieto-Marín, Juan Jiménez-Jáimez, David Tinaquero, Silvia Alfayate, Raquel G Utrilla, María Del Mar Rodríguez Vázquez Del Rey, Francesca Perin, Geòrgia Sarquella-Brugada, Lorenzo Monserrat, Josep Brugada, Luis Tercedor, Juan Tamargo, Eva Delpón, Ricardo Caballero
INTRODUCTION AND OBJECTIVES: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. METHODS: L-type calcium current (ICaL ) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p...
April 21, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29681100/bohring-opitz-syndrome-caused-by-an-asxl1-mutation-inherited-from-a-germline-mosaic-mother
#7
Emma Bedoukian, Deborah Copenheaver, Sherri Bale, Matthew Deardorff
Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, microcephaly, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others). Most patients meeting the clinical criteria for BOS (MIM: 605039) have a de novo nonsense or frameshift variant in ASXL1. We report a case of BOS caused by a pathogenic ASXL1 variant inherited from a germline mosaic mother. The ASXL1 mutation was detected via trio exome sequencing. The sequencing data demonstrated that the variant was inherited maternally but that the maternal variant was underrepresented in comparison to the normal allele...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29660852/etiology-and-functional-validation-of-gastrointestinal-motility-dysfunction-in-a-zebrafish-model-of-charge-syndrome
#8
Kellie Cloney, Shelby L Steele, Matthew R Stoyek, Roger P Croll, Frank M Smith, Sergey V Prykhozhij, Mary M Brown, Craig Midgen, Kim Blake, Jason N Berman
CHARGE syndrome is linked to autosomal dominant mutations in the CHD7 gene and results in a number of physiological and structural abnormalities, including heart defects, hearing and vision loss and gastrointestinal (GI) problems. Of these challenges, GI problems have a profound impact throughout an individual's life, resulting in increased morbidity and mortality. A homologue of CHD7 has been identified in the zebrafish, the loss of which recapitulates many of the features of the human disease. Using a morpholino chd7 knockdown model complemented by a chd7 null mutant zebrafish line, we examined GI structure, innervation, and motility in larval zebrafish...
April 16, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29655802/mars-variant-associated-with-both-recessive-interstitial-lung-and-liver-disease-and-dominant-charcot-marie-tooth-disease
#9
Jonathan Rips, Rebecca Meyer-Schuman, Oded Breuer, Reuven Tsabari, Avraham Shaag, Shoshana Revel-Vilk, Shimon Reif, Orly Elpeleg, Anthony Antonellis, Tamar Harel
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNA with cognate amino acids during protein translation. Non-canonical functions are increasingly recognized, and include transcription and translation control and extracellular signaling. Monoallelic mutations in genes encoding several ARSs have been identified in axonal Charcot-Marie-Tooth (CMT2) disease, whereas biallelic mutations in ARS loci have been associated with multi-tissue syndromes, variably involving the central nervous system, lung, and liver...
April 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29653002/-genetic-analysis-of-two-children-patients-affected-with-charge-syndrome
#10
Guoqiang Li, Niu Li, Yufei Xu, Juan Li, Yu Ding, Yiping Shen, Xiumin Wang, Jian Wang
OBJECTIVE: To analyze two Chinese pediatric patients with multiple malformations and growth and development delay. METHODS: Both patients were subjected to targeted gene sequencing, and the results were analyzed with Ingenuity Variant Analysis software. Suspected pathogenic variations were verified by Sanger sequencing. RESULTS: High-throughput sequencing showed that both patients have carried heterozygous variants of the CHD7 gene. Patient 1 carried a nonsense mutation in exon 36 (c...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29626102/identification-of-unusual-oxysterols-and-bile-acids-with-7-oxo-or-3%C3%AE-5%C3%AE-6%C3%AE-trihydroxy-functions-in-human-plasma-by-charge-tagging-mass-spectrometry-with-multistage-fragmentation
#11
William J Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J Crick, Thomas Hearn, Alison Dickson, Brian W Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A Jones, Yuqin Wang
7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC) and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples, however, in disease their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders e.g. Niemann Pick disease type C, or the inborn errors of sterol metabolism e.g. Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis. A complication in the analysis of 7-OC and 5,6-EC is that they can also be formed ex vivo from cholesterol during sample handling in air causing confusion with molecules formed in vivo...
April 6, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29625968/2018-update-of-the-eular-recommendations-for-the-management-of-beh%C3%A3-et-s-syndrome
#12
Gulen Hatemi, Robin Christensen, Dongsik Bang, Bahram Bodaghi, Aykut Ferhat Celik, Farida Fortune, Julien Gaudric, Ahmet Gul, Ina Kötter, Pietro Leccese, Alfred Mahr, Robert Moots, Yesim Ozguler, Jutta Richter, David Saadoun, Carlo Salvarani, Francesco Scuderi, Petros P Sfikakis, Aksel Siva, Miles Stanford, Ilknur Tugal-Tutkun, Richard West, Sebahattin Yurdakul, Ignazio Olivieri, Hasan Yazici
Several new treatment modalities with different mechanisms of action have been studied in patients with Behçet's syndrome (BS). The aim of the current effort was to update the recommendations in the light of these new data under the auspices of the European League Against Rheumatism (EULAR) Standing Committee for Clinical Affairs. A task force was formed that included BS experts from different specialties including internal medicine, rheumatology, ophthalmology, dermatology, neurology, gastroenterology, oral health medicine and vascular surgery, along with a methodologist, a health professional, two patients and two fellows in charge of the systematic literature search...
June 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29622552/clival-malformations-in-charge-syndrome
#13
E S Mahdi, M T Whitehead
BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome...
April 5, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29615807/an-intronic-mutation-in-chd7-creates-a-cryptic-splice-site-causing-aberrant-splicing-in-a-mouse-model-of-charge-syndrome
#14
Jacqueline M Ogier, Benedicta D Arhatari, Marina R Carpinelli, Bradley K McColl, Michael A Wilson, Rachel A Burt
Alternate splicing is a critical regulator of gene expression in eukaryotes, however genetic mutations can cause erroneous splicing and disease. Most recorded splicing disorders are caused by mutations of splice donor/acceptor sites, however intronic mutations can affect splicing. Clinical exome analyses largely ignore intronic sequence, limiting the detection of mutations to within coding regions. We describe 'Trooper', a novel mouse model of CHARGE syndrome harbouring a pathogenic point mutation in Chd7. The mutation is 18 nucleotides upstream of exon 10 and creates a cryptic acceptor site, causing exon skipping and partial intron retention...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29613957/health-care-utilization-and-the-cost-of-post-traumatic-ards-care
#15
Anamaria J Robles, Lucy Z Kornblith, Carolyn M Hendrickson, Benjamin M Howard, Amanda S Conroy, Farzad Moazed, Carolyn S Calfee, Mitchell J Cohen, Rachael A Callcut
BACKGROUND: Post-traumatic acute respiratory distress syndrome (ARDS) is associated with prolonged mechanical ventilation and longer hospitalizations. The relationship between post-traumatic ARDS severity and financial burden has not been previously studied. We hypothesized that increasing severity is associated with incrementally higher health care costs. METHODS: Adults arriving as the highest level of trauma activation were enrolled in an ongoing prospective cohort study...
April 2, 2018: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29596413/lack-of-2-o-methylation-in-the-trna-anticodon-loop-of-two-phylogenetically-distant-yeast-species-activates-the-general-amino-acid-control-pathway
#16
Lu Han, Michael P Guy, Yoshiko Kon, Eric M Phizicky
Modification defects in the tRNA anticodon loop often impair yeast growth and cause human disease. In the budding yeast Saccharomyces cerevisiae and the phylogenetically distant fission yeast Schizosaccharomyces pombe, trm7Δ mutants grow poorly due to lack of 2'-O-methylation of C32 and G34 in the tRNAPhe anticodon loop, and lesions in the human TRM7 homolog FTSJ1 cause non-syndromic X-linked intellectual disability (NSXLID). However, it is unclear why trm7Δ mutants grow poorly. We show here that despite the fact that S...
March 29, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29538527/genetic-syndromes-associated-with-congenital-cardiac-defects-and-ophthalmologic-changes-systematization-for-diagnosis-in-the-clinical-practice
#17
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29536580/clinical-application-of-targeted-next-generation-sequencing-on-fetuses-with-congenital-heart-defects
#18
Ping Hu, Fengchang Qiao, Yan Wang, Lulu Meng, Xiuqing Ji, Chunyu Luo, Tianhui Xu, Ran Zhou, Jingjing Zhang, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Dong Liang, Zhengfeng Xu
OBJECTIVES: This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) in prenatal diagnosis of congenital heart defects (CHDs) and for investigating the possible genetic etiology of prenatal CHD cases. METHODS: Forty-four fetuses with CHDs and normal molecular karyotypes underwent targeted NGS in this study. Fetal genomic DNA was directly extracted from amniotic fluid cells in each prenatal case. A customized targeted NGS panel containing 77 CHD-associated genes was designed to detect variants in the coding regions and the splicing sites of these genes...
March 13, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29531775/an-unclassified-variant-of-chd7-activates-a-cryptic-splice-site-in-a-patient-with-charge-syndrome
#19
Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara, Maki Fukami
CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous CHD7 mutations. A de novo variant in a CHD7 splicing acceptor site (NM_017780.3:c.7165-4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an "unclassified variant" due to its position outside the consensus splicing sites. In this study, abnormal splicing derived from this known variant was confirmed by cDNA sequencing.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29505155/laboratory-monitoring-of-children-on-home-parenteral-nutrition-a-prospective-study
#20
Amber Smith, Mary Beth Feuling, Catherine Larson-Nath, Catherine Karls, Megan Van Hoorn, Cassandra L S Walia, Carly Leon, Elaine Danner, Pam Opichka, Lori Duesing, Alfonso Martinez, Praveen S Goday
BACKGROUND: The primary hypothesis of this article is that a team approach in creating a protocolized laboratory monitoring schedule for home parenteral nutrition (PN) patients improves patient safety by decreasing the occurrence of nutrition deficiencies and is cost-effective. METHODS: In this prospective cohort study of home PN patients, each patient followed an established protocol of laboratory monitoring and weekly review by an interdisciplinary team of dietitians, nurses, and physicians...
January 2018: JPEN. Journal of Parenteral and Enteral Nutrition
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