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https://www.readbyqxmd.com/read/28087483/cell-number-per-spheroid-and-electrical-conductivity-of-nanowires-influence-the-function-of-silicon-nanowired-human-cardiac-spheroids
#1
Yu Tan, Dylan Richards, Robert C Coyle, Jenny Yao, Ruoyu Xu, Wenyu Gou, Hongjun Wang, Donald R Menick, Bozhi Tian, Ying Mei
: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) provide an unlimited cell source to treat cardiovascular diseases, the leading cause of death worldwide. However, current hiPSC-CMs retain an immature phenotype that leads to difficulties for integration with adult myocardium after transplantation. To address this, we recently utilized electrically conductive silicon nanowires (e-SiNWs) to facilitate self-assembly of hiPSC-CMs to form nanowired hiPSC cardiac spheroids...
January 10, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#2
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28079553/end-of-life-decisions-in-heart-failure-to-turn-off-the-intracardiac-device-or-not
#3
Bilal Ayach, Amrit Malik, Colette Seifer, Shelley Zieroth
PURPOSE OF REVIEW: Heart failure is a significant public health concern around the world. Implantable cardioverter defibrillators with or without cardiac resynchronization therapy (CRT-D) have proven survival benefit. As patients progress to end-stage disease, management shifts to palliative care, and cardiologists are often confronted with how to best manage these devices. RECENT FINDINGS: Studies suggest that up to one-third of patients with an implantable cardioverter defibrillator receive painful shocks in the last 24 h of life...
January 11, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28077124/important-patient-characteristics-differ-prior-to-total-knee-arthroplasty-and-total-hip-arthroplasty-between-switzerland-and-the-united-states
#4
Patricia D Franklin, Hermes Miozzari, Panayiotis Christofilopoulos, Pierre Hoffmeyer, David C Ayers, Anne Lübbeke
BACKGROUND: Outcomes after total knee (TKA) and hip (THA) arthroplasty are often generalized internationally. Patient-dependent factors and preoperative symptom levels may differ across countries. We compared preoperative patient and clinical characteristics from two large cohorts, one in Switzerland, the other in the US. METHODS: Patient characteristics were collected prospectively on all elective primary TKAs and THAs performed at a large Swiss hospital and in a US national sample...
January 11, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28069046/occurrence-of-emery-dreifuss-muscular-dystrophy-in-a-rural-setting-of-cameroon-a-case-report-and-review-of-the-literature
#5
Cyril Jabea Ekabe, Jules Kehbila, Carlson-Babila Sama, Benjamin Momo Kadia, Martin Hongieh Abanda, Gottlieb Lobe Monekosso
BACKGROUND: Emery-Dreifuss muscular dystrophy is a rare genetic muscular disease, presenting mainly with contractures, weakness and cardiac conduction abnormalities. Its clinical and laboratory similarities to other muscular dystrophies, and rarity poses diagnostic challenges, requiring a high index of suspicion in resource limited settings. CASE PRESENTATION: An 8 year old sub-Saharan male presented with rigidity and deformity of both elbows and ankles, and weakness of the upper limbs and lower limbs for duration of 4 months...
January 9, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28058140/predictive-value-of-brain-arrest-neurological-outcome-scale-branos-on-mortality-and-morbidity-after-cardiac-arrest
#6
Cengiz Şahutoğlu, Mehmet Uyar, Kubilay Demirağ, Hasan İsayev, Ali Reşat Moral
OBJECTIVE: There are several prediction scales and parameters for prognosis after a cardiac arrest. One of these scales is the brain arrest neurological outcome scale (BrANOS), which consists of duration of cardiac arrest, Glasgow Coma Scale score and Hounsfield unit measured on cranial computed tomography (CT) scan. The objective of this study is to investigate the effectiveness of BrANOS on predicting the mortality and disability after a cardiac arrest. METHODS: We retrospectively investigated cardiac arrest patients who were hospitalized in our intensive care unit (ICU) within a 3-year period...
December 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#7
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28043739/canadian-cardiovascular-society-canadian-pediatric-cardiology-association-position-statement-on-pulse-oximetry-screening-in-newborns-to-enhance-detection-of-critical-congenital-heart-disease
#8
Kenny K Wong, Anne Fournier, Deborah S Fruitman, Lisa Graves, Derek G Human, Michael Narvey, Jennifer L Russell
Congenital heart disease is the most common congenital malformation and approximately 3 in 1000 newborns have critical congenital heart disease (CCHD). Timely diagnosis affects morbidity, mortality, and disability, and newborn pulse oximetry screening has been studied to enhance detection of CCHD. In this position statement we present an evaluation of the literature for pulse oximetry screening. Current detection strategies including prenatal ultrasound examination and newborn physical examination are limited by low diagnostic sensitivity...
October 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28027064/novel-pathogenic-variant-in-the-hras-gene-with-lethal-outcome-and-a-broad-phenotypic-spectrum-among-polish-patients-with-costello-syndrome
#9
Magdalena Pelc, Elżbieta Ciara, Aleksandra Jezela-Stanek, Monika Kugaudo, Agata Cieślikowska, Dorota Jurkiewicz, Magdalena Janeczko, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Agata Skórka
Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype. A molecular test showed two known heterozygous mutations in the first coding exon of the gene in seven patients: p...
December 23, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28025126/digital-technology-to-enable-aging-in-place
#10
REVIEW
Kwang-Il Kim, Shreya S Gollamudi, Steven Steinhubl
Aging, both of individuals and populations, presents challenges and opportunities. The multitude of morbidities and disabilities that are a too common component of aging represent significant challenges to individuals, their families and to healthcare systems. Aging in place is the ability to safely and comfortably maintain an independent and high quality of life in one's own home and community and is a highly desirable goal of most individuals with the additional benefit of significantly impacting the impending enormous healthcare burden...
December 24, 2016: Experimental Gerontology
https://www.readbyqxmd.com/read/28025065/trends-in-u-s-cardiovascular-care-2016-report-from-4-acc-national-cardiovascular-data-registries
#11
REVIEW
Frederick A Masoudi, Angelo Ponirakis, James A de Lemos, James G Jollis, Mark Kremers, John C Messenger, John W M Moore, Issam Moussa, William J Oetgen, Paul D Varosy, Robert N Vincent, Jessica Wei, Jeptha P Curtis, Matthew T Roe, John A Spertus
Cardiovascular disease (CVD) is a leading cause of death and disability in the United States. National quality programs such as the National Cardiovascular Data Registry (NCDR®) permit assessments of the quality of care and outcomes for broad populations of patients with CVD. This report provides data from 2014 from four NCDR® hospital quality programs: 1) CathPCI® for coronary angiography and percutaneous coronary intervention (667,424 procedures performed in 1,612 hospitals) ICD™ for implantable cardioverter defibrillators (158,649 procedures performed in 1,715 hospitals); 3) ACTION®-GWTG™ for acute coronary syndromes (182,903 patients admitted to 907 hospitals); and 4) IMPACT® for cardiac catheterization and intervention for pediatric and adult congenital heart disease (20,169 procedures in 76 hospitals)...
December 20, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28018896/factors-influencing-neurodevelopment-after-cardiac-surgery-during-infancy
#12
REVIEW
Hedwig Hubertine Hövels-Gürich
Short- and long-term neurodevelopmental (ND) disabilities with negative impact on psychosocial and academic performance, quality of life, and independence in adulthood are known to be the most common sequelae for surviving children after surgery for congenital heart disease (CHD). This article reviews influences and risk factors for ND impairment. For a long time, the search for independent risk factors was focused on the perioperative period and modalities of cardiopulmonary bypass (CPB). CPB operations to ensure intraoperative vital organ perfusion and oxygen supply with or without circulatory arrest or regional cerebral perfusion bear specific risks...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28008647/palmoplantar-keratoderma-in-costello-syndrome-responsive-to-acitretin
#13
Nareh V Marukian, Jonathan L Levinsohn, Brittany G Craiglow, Leonard M Milstone, Keith A Choate
Costello syndrome (CS) is a multisystem congenital disorder characterized by coarse facial features, cardiac defects, intellectual disability, and predisposition to malignancies. Dermatologic findings can include cutaneous papillomas, skin redundancy, acanthosis nigricans, and keratosis pilaris. Palmoplantar keratoderma (PPK) is present in approximately 76% of patients with CS, with disabling functional consequences in severe cases. We report a case of CS with severe PPK that improved dramatically with systemic administration of acitretin 0...
December 23, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/28002430/a-novel-hras-mutation-independently-contributes-to-left-ventricular-hypertrophy-in-a-family-with-a-known-myh7-mutation
#14
Maria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, Laura Pezzoli, Daniela Marchetti, Chiara Lodrini, Elisabetta Candiago, Anna Rita Lincesso, Paolo Ferrazzi, Maria Iascone
Several genetic conditions can lead to left ventricular hypertrophy (LVH). Among them, hypertrophic cardiomyopathy (HCM), caused by mutations in sarcomere genes, is the most common inherited cardiac disease. Instead, RASopathies, a rare class of disorders characterized by neuro-cardio-facial-cutaneous abnormalities and sometimes presenting with LVH, are caused by mutations in the RAS-MAPK pathway. We report on a 62-years-old male who presented isolated severe obstructive LVH but did not carry the sarcomere mutation previously identified in his affected relatives...
2016: PloS One
https://www.readbyqxmd.com/read/27998040/sleep-apnoea-in-heart-failure-to-treat-or-not-to-treat
#15
REVIEW
Matthew T Naughton, Kirk Kee
Heart failure (HF) and sleep apnoea are common disorders which frequently coexist. Two main types of apnoea occur: one is obstructive which, through recurring episodes of snoring, hypoxaemia, large negative intra-thoracic pressures and arousals from sleep leading to downstream inflammatory and autonomic nervous system changes, is thought to be a causative factor to the development of systemic hypertension and HF. The other type of apnoea, Cheyne-Stokes respiration with central sleep apnoea (CSR-CSA), is characterized by an oscillatory pattern of ventilation with a prevailing hyperventilation-induced hypocapnia, often in the absence of significant hypoxaemia and snoring, and is thought to be a consequence of advanced HF-related low cardiac output, high sympathetic nervous system activation and pulmonary congestion...
February 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/27994354/role-of-brain-natriuretic-peptide-as-a-novel-prognostic-biomarker-in-acute-ischemic-stroke
#16
Bindu Menon, Krishnana Ramalingam, Jyoti Conjeevaram, K Munisusmitha
AIM: We investigated to study the prognostic importance of brain natriuretic peptide (BNP) in ischemic stroke. MATERIALS AND METHODS: We prospectively enrolled 100 patients with acute ischemic stroke and measured plasma BNP levels and compared with age- and sex-matched healthy controls. Risk factors, biochemical parameters, lipid profile, carotid and vertebral Doppler, imaging, and cardiac evaluation were done. Stroke severity was assessed by the National Institutes of Health Stroke Scale (NIHSS) score on admission and functional disability by Barthel Index (BI) at 3 months...
October 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27989374/functional-quality-of-life-and-neurodevelopmental-outcomes-after-congenital-cardiac-surgery
#17
REVIEW
Megan L Ringle, Gil Wernovsky
Throughout the past few decades, advances in cardiology, neonatal intensive care, and surgical techniques have resulted in a growing cohort of thriving school-aged children with previously lethal complex congenital heart diseases. While survival has increased, there remains significant morbidity following repair including neurodevelopmental sequelae. Compared to children with a structurally normal heart, these infants and children have a higher frequency of abnormalities in tone, feeding, and delayed developmental milestones, as well as challenges with speech and learning disabilities, while a higher proportion of adolescents suffer from problems with processing speed, executive function, and a unique set of medical hardships related to exercise intolerance and obesity, medication burden, and mental health comorbidities...
December 2016: Seminars in Perinatology
https://www.readbyqxmd.com/read/27966202/provisional-report-on-diving-related-fatalities-in-australian-waters-in-2011
#18
John Lippmann, Christopher Lawrence, Andrew Fock, Scott Jamieson, Richard Harris
INTRODUCTION: An individual case review of diving-related deaths reported as occurring in Australia in 2011 was conducted as part of the DAN Asia-Pacific dive fatality reporting project. METHOD: The case studies were compiled using reports from witnesses, the police and coroners. In each case, the particular circumstances of the accident and, where available, details from the post-mortem examination are provided. A chain of events analysis was conducted for each case...
December 2016: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
https://www.readbyqxmd.com/read/27964749/truncating-de-novo-mutations-in-the-kr%C3%A3-ppel-type-zinc-finger-gene-znf148-in-patients-with-corpus-callosum-defects-developmental-delay-short-stature-and-dysmorphisms
#19
Servi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, Abdallah F Elias, Jaclyn A Haven, Stefan H Lelieveld, Rolph Pfundt, Willy M Nillesen, Helger G Yntema, Kees van Roozendaal, Alexander P Stegmann, Christian Gilissen, Han G Brunner
BACKGROUND: Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors. Only few ZNF genes are currently linked to human disorders and identification of ZNF gene-associated human diseases may help understand their function...
December 13, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27957813/neurocognitive-functioning-in-adults-with-congenital-heart-disease
#20
Dawn Ilardi, Kim E Ono, Rebecca McCartney, Wendy Book, Anthony Y Stringer
OBJECTIVE: Adults with congenital heart disease (CHD) are at increased risk of psychological disorders and cognitive deficiencies due to structural/acquired neurological abnormalities and neurodevelopmental disorders as children. However, limited information is known about the neuropsychological functioning of adults with CHD. This study screened neuropsychological abilities and explored group differences related to cardiac disease severity and neurological risk factors in adults with CHD...
December 13, 2016: Congenital Heart Disease
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