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Edward Syndrome

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https://www.readbyqxmd.com/read/29220674/actb-loss-of-function-mutations-result-in-a-pleiotropic-developmental-disorder
#1
Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C Digilio, Abhijit Dixit, Matthew Edwards, Jan M Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y T Ma, Ruth McGowan, Maryse Des Medt, James O'Sullivan, Sylvie Odent, Michael J Parker, Céline Pebrel-Richard, Florence Petit, Zornitza Stark, Sylvia Stockler-Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M White, Farah R Zahir, Adrian S Woolf, Siddharth Banka
ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29220207/mr-imaging-of-muscle-trauma-anatomy-biomechanics-pathophysiology-and-imaging-appearance
#2
Dyan V Flores, Catalina Mejía Gómez, Mauricio Estrada-Castrillón, Edward Smitaman, Mini N Pathria
Muscle is an important component of the muscle-tendon-bone unit, driving skeletal motion through contractions that alter the length of the muscle. The muscle and myotendinous junction (MTJ) are most commonly injured in the young adult, as a result of indirect mechanisms such as overuse or stretching, direct impact (penetrating or nonpenetrating), or dysfunction of the supporting connective tissues. Magnetic resonance (MR) imaging is widely used for assessment of muscle injuries. This review illustrates the MR imaging appearance of a broad spectrum of acute, subacute, and chronic traumatic lesions of muscle, highlighting the pathophysiology, biomechanics, and anatomic considerations underlying these lesions...
December 8, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29217088/induction-cisplatin-docetaxel-followed-by-surgery-and-erlotinib-in-non-small-cell-lung-cancer
#3
Tina Cascone, Kathryn A Gold, Stephen G Swisher, Diane D Liu, Frank V Fossella, Boris Sepesi, Apar Pataer, Annikka Weissferdt, Neda Kalhor, Ara A Vaporciyan, Wayne L Hofstetter, Ignacio I Wistuba, John V Heymach, Edward S Kim, William N William
BACKGROUND: Data from meta-analyses support the use of induction or adjuvant platinum-based chemotherapy for locally advanced non-small cell lung cancers (NSCLCs). This phase 2 study assessed the role of induction cisplatin and docetaxel followed by surgery in patients with resectable stage I to III NSCLCs, followed by 12 months of adjuvant erlotinib. METHODS: Patients with resectable stage I to III NSCLCs received cisplatin 80 mg/m2, docetaxel 75 mg/m2 every 21 days for 3 cycles, followed by surgery, followed by adjuvant erlotinib for 12 months...
December 4, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29212563/clinically-relevant-and-simple-immune-system-measure-is-related-to-symptom-burden-in-bipolar-disorder
#4
Ole Köhler-Forsberg, Louisa Sylvia, Thilo Deckersbach, Michael Joshua Ostacher, Melvin McInnis, Dan Iosifescu, Charles Bowden, Susan McElroy, Joseph Calabrese, Michael Thase, Richard Charles Shelton, Mauricio Tohen, James Kocsis, Edward Friedman, Terence Ketter, Andrew Alan Nierenberg
OBJECTIVE: Immunological theories, particularly the sickness syndrome theory, may explain psychopathology in mood disorders. However, no clinical trials have investigated the association between overall immune system markers with a wide range of specific symptoms including potential gender differences. METHODS: We included two similar clinical trials, the lithium treatment moderate-dose use study and clinical and health outcomes initiatives in comparative effectiveness for bipolar disorder study, enrolling 765 participants with bipolar disorder...
December 7, 2017: Acta Neuropsychiatrica
https://www.readbyqxmd.com/read/29209885/neuroimaging-findings-associated-with-congenital-zika-virus-syndrome-case-series-at-the-time-of-first-epidemic-outbreak-in-pernambuco-state-brazil
#5
Pedro Pires, Patricia Jungmann, Jully Moura Galvão, Adriano Hazin, Luiza Menezes, Ricardo Ximenes, Gabriele Tonni, Edward Araujo Júnior
PURPOSE: This study aimed to describe the prenatal and postnatal neuroimaging and clinical findings in a clinical series following congenital Zika virus syndrome during the first epidemic Zika virus (ZIKV) outbreak in the State of Pernambuco, Brazil. METHODS: We (the authors) conducted a retrospective study of a prospectively collected case series of fetuses and neonates with microcephaly born to mothers with presumed/confirmed congenital ZIKV syndrome. Prenatal ultrasound findings were reviewed to identify potential central nervous system (CNS) abnormalities...
December 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29196995/epigenetics-and-preeclampsia-programming-of-future-outcomes
#6
Alberto Borges Peixoto, Liliam Cristine Rolo, Luciano Marcondes Machado Nardozza, Edward Araujo Júnior
Pregnancy is known to induce rapid, progressive, and substantial changes to the cardiovascular system, ultimately facilitating successful pregnancy outcomes. Women who develop hypertensive disorders during pregnancy are considered to have "failed" the cardiovascular stress test of pregnancy and likely represent a subpopulation with inadequate cardiovascular accommodation. Preeclampsia is a serious complication with a myriad of manifestations in both mother and offspring. This pregnancy syndrome is a polygenic disease and has now been linked to a greater incidence of cardiovascular disease...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29196931/metabolic-syndrome-and-bone-pharmacologically-induced-diabetes-has-deleterious-effect-on-bone-in-growing-obese-rats
#7
Cedo M Bagi, Kristin Edwards, Edwin Berryman
Metabolic syndrome and osteoporosis share similar risk factors. Also, patients with diabetes have a higher risk of osteoporosis and fracture. Liver manifestations, such as non-alcoholic steatohepatitis (NASH), of metabolic syndrome are further aggravated in diabetics and often lead to liver failure. Our objective was to create a rat model of human metabolic syndrome and determine the long-term impact of early-onset T1D on bone structure and strength in obese growing rats. Male rats were given either standard chow and RO water (Controls) or a high-fat, high-cholesterol diet and sugar water containing 55% fructose and 45% glucose (HFD)...
December 1, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29195081/corrigendum-to-klinefelter-s-syndrome-47-xxy-is-in-excess-among-men-with-sj%C3%A3-gren-s-syndrome-clin-immunol-168-2016-25-29
#8
Valerie M Harris, Rohan Sharma, Joshua Cavett, Biji T Kurien, Ke Liu, Kristi A Koelsch, Astrid Rasmussen, Lida Radfar, David Lewis, Donald U Stone, C Erick Kaufman, Shibo Li, Barbara Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Jennifer A Kelly, Marta E Alarcon-Riquelme, Bernardo Pons-Estel, Roland Jonsson, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S Cunninghame-Graham, Andrew J W Huang, Michael T Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C Keystone, Vivian P Bykerk, Gideon Hirschfield, Gang Xie, Katherine A Siminovitch, Wan-Fai Ng, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, TorstenWitte, Xavier Mariette, Christopher J Lessard, John B Harley, Kathy L Sivils, R Hal Scofield
No abstract text is available yet for this article.
November 28, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29194060/cervical-deformity-and-potential-difficult-airway-management-in-klippel-feil-syndrome
#9
Mamta Chura, Nadine Odo, Edward Foley, Vaibhav Bora
No abstract text is available yet for this article.
December 1, 2017: Anesthesiology
https://www.readbyqxmd.com/read/29189428/wake-up-call-to-clinicians-the-impact-of-sleep-dysfunction-on-gastrointestinal-health-and-disease
#10
Parth J Parekh, Edward C Oldfield, David A Johnson
Sleep dysfunction is an epidemic affecting a large portion of the adult population. Recent studies have linked sleep dysfunction with an upregulation of proinflammatory cytokines (eg, tumor necrosis factor-α, interleukin-1 and interleukin-6), the implications of which can have a profound impact on a variety of gastrointestinal disease. In particular, sleep dysfunction seems to accelerate disease states characterized by inflammation (eg, gastroesophageal reflux disease, irritable bowel syndrome and functional dyspepsia, chronic liver disease, inflammatory bowel disease, and colorectal cancer)...
November 17, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/29188632/-advance-in-clinical-application-of-non-invasive-prenatal-screening-using-cell-free-fetal-dna
#11
Jilin Hu, Baosheng Zhu
Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29176503/diagnostic-injections-about-the-shoulder
#12
Edward McFarland, Johnathan Bernard, Eric Dein, Alex Johnson
Injections about the shoulder serve diagnostic as well as therapeutic purposes. Diagnosis of shoulder conditions, such as rotator cuff tears, acromioclavicular joint pathology, subacromial impingement or anterolateral pain syndrome, glenohumeral joint pathology, suprascapular nerve entrapment, and biceps tendon pathologies, is often complicated by concomitant conditions with overlapping symptoms and by inconclusive physical examination and imaging results. Injections of anesthetic agents can often help clinicians locate the source of pain...
December 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/29172978/application-of-the-fda-biosimilar-extrapolation-framework-to-make-off-label-determinations
#13
Edward Li, Ernesto Lobaina
BACKGROUND: The FDA's extrapolation framework allows for a biosimilar to obtain licensure for indications that were not explicitly studied in the context of a clinical trial by extending conclusions from studies in 1 population to make inferences in other populations. Within routine clinical care, drugs and biologics are routinely used for medically accepted off-label indications. The appropriateness of these products for off-label indications are typically curated by compendia and guidelines, which have established processes and criteria for reviewing and evaluating the evidence to make such determinations...
December 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29172153/ajmaline-blocks-ina-and-ikr-without-eliciting-differences-between-brugada-syndrome-patient-and-control-human-pluripotent-stem-cell-derived-cardiac-clusters
#14
Duncan C Miller, Stephen C Harmer, Ariel Poliandri, Muriel Nobles, Elizabeth C Edwards, James S Ware, Tyson V Sharp, Tristan R McKay, Leo Dunkel, Pier D Lambiase, Andrew Tinker
The class Ia anti-arrhythmic drug ajmaline is used clinically to unmask latent type I ECG in Brugada syndrome (BrS) patients, although its mode of action is poorly characterised. Our aims were to identify ajmaline's mode of action in human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (CMs), and establish a simple BrS hiPSC platform to test whether differences in ajmaline response could be determined between BrS patients and controls. Control hiPSCs were differentiated into spontaneously contracting cardiac clusters...
November 7, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29169543/repeat-presentation-for-middle-aortic-syndrome-18%C3%A2-years-after-original-repair
#15
Hazel Marecki, Jessica P Simons, Andres Schanzer, Edward J Arous, Devon Robichaud, Louis M Messina
No abstract text is available yet for this article.
December 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29168552/predictors-of-post-operative-atrial-fibrillation-in-patients-undergoing-isolated-coronary-artery-bypass-grafting
#16
Iwona Gorczyca-Michta, Kamil Michta, Edward Pietrzyk, Beata Wożakowska-Kapłon
BACKGROUND: Post-operative atrial fibrillation (POAF) is the most common cardiac arrhythmia occurring after coronary artery bypass grafting (CABG). Arrhythmia leads to prolonged hospitalization and may have impact on both short-term and long-term prognoses. AIM: The aim of this paper was the evaluation of the incidence of POAF in patients after CABG as well as the identification of its predictors. METHODS: The study was performed on 791 patients (selected from a group of 1031 patients who underwent CABG in the Clinical Department of Cardiology in years 2009-2011) who did not suffer from atrial fibrillation (AF) prior to isolated CABG...
November 23, 2017: Kardiologia Polska
https://www.readbyqxmd.com/read/29168052/change-in-health-related-quality-of-life-and-social-cognitive-outcomes-in-obese-older-adults-in-a-randomized-controlled-weight-loss-trial-does-physical-activity-behavior-matter
#17
Jason Fanning, Michael P Walkup, Walter T Ambrosius, Lawrence R Brawley, Edward H Ip, Anthony P Marsh, W Jack Rejeski
This article compared the effect of dietary weight loss administered alone (WL) or in combination with aerobic training (WL + AT) or resistance training (WL + RT) on health related quality of life, walking self-efficacy, stair climb self-efficacy, and satisfaction with physical function in older adults with cardiovascular disease or the metabolic syndrome. Participants (N = 249; M age = 66.9) engaged in baseline assessments and were randomly assigned to one of three interventions, each including a 6-month intensive phase and a 12-month follow-up...
November 22, 2017: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/29165691/estradiol-protects-proopiomelanocortin-neurons-against-insulin-resistance
#18
Jian Qiu, Martha A Bosch, Cecilia Meza, Uyen-Vy Navarro, Casey C Nestor, Edward J Wagner, Oline K Rønnekleiv, Martin J Kelly
Insulin resistance is at the core of the metabolic syndrome, and men exhibit a higher incidence of metabolic syndrome than women in early adult life, but this sex advantage diminishes sharply when women reach the postmenopausal state. Since 17β-estradiol (E2) augments the excitability of the anorexigenic POMC neurons, we investigated the neuroprotective effects of E2 against insulin resistance in POMC neurons from diet-induced obese (DIO) female and male mice. The efficacy of insulin to activate canonical transient receptor potential 5 (TRPC5) channels and depolarize POMC neurons was significantly reduced in DIO male but not in DIO female mice...
November 20, 2017: Endocrinology
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#19
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29156899/modulating-the-endocannabinoid-pathway-as-treatment-for-peripheral-neuropathic-pain-a-selected-review-of-preclinical-studies
#20
Shannon O'Hearn, Patrick Diaz, Bo Angela Wan, Carlo DeAngelis, Nicholas Lao, Leila Malek, Edward Chow, Alexia Blake
Chemotherapy-induced neuropathic pain is a distressing and commonly occurring side effect of many commonly used chemotherapeutic agents, which in some cases may prevent cancer patients from being able to complete their treatment. Cannabinoid based therapies have the potential to manage or even prevent pain associated with this syndrome. Pre-clinical animal studies that investigate the modulation of the endocannabinoid system (endogenous cannabinoid pathway) are being conducted to better understand the mechanisms behind this phenomenon...
August 31, 2017: Annals of Palliative Medicine
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