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Cardiac disability

Xiaoling Yuan, Zifeng Dong
BACKGROUND Ischemic stroke (IS) is a leading cause of disability and death and NOTCH3 as a gene related with cardiac-cerebral vascular disease plays a vital role in IS development. However, the reports about the effect of genetic variants in NOTCH3 gene on IS are still few. MATERIAL AND METHODS In order to explore the association between NOTCH3 polymorphisms and IS, 134 patients with IS and 115 controls were enrolled in this case-control study. Polymerase chain reaction was used to do the genotyping of polymorphisms...
October 22, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Nadia A Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS: We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using homozygosity mapping, we mapped the phenotype in this family to a single locus on chromosome 17. In addition, whole-exome sequencing identified a homozygous splicing mutation (c...
October 21, 2016: Orphanet Journal of Rare Diseases
Xavier Freixa, Laura Llull, Sameer Gafoor, Ignacio Cruz-Gonzalez, Samera Shakir, Heyder Omran, Sergio Berti, Gennaro Santoro, Joelle Kefer, Ulf Landmesser, Jens Erik Nielsen-Kudsk, Prapa Kanagaratnam, Fabian Nietlispach, Steffen Gloekler, Adel Aminian, Paolo Danna, Marco Rezzaghi, Friederike Stock, Miroslava Stolcova, Luis Paiva, Marco Costa, Xavier Millán, Reda Ibrahim, Tobias Tichelbäcker, Wolfgang Schillinger, Jai-Wun Park, Horst Sievert, Bernhard Meier, Apostolos Tzikas
Cardioembolic strokes are generally more lethal and disabling than other source of strokes. Data from PROTECT AF (Watchman Left Atrial Appendage Closure Technology for Embolic Protection in Patients With Atrial Fibrillation) suggest that strokes after left atrial appendage occlusion (LAAO) with the Watchman device are less disabling than those in the warfarin group. No data assessing the severity of strokes after LAAO with the AMPLATZER Cardiac Plug (ACP) are available. The objective of the study was to evaluate the severity of cerebrovascular events after LAAO with the ACP in a population mostly characterized by an absolute or relative contraindication to oral anticoagulation...
September 15, 2016: American Journal of Cardiology
Joachim Behar, Ambhighainath Ganesan, Jin Zhang, Yael Yaniv
Sinoatrial nodal cells (SANCs) generate spontaneous action potentials (APs) that control the cardiac rate. The brain modulates SANC automaticity, via the autonomic nervous system, by stimulating membrane receptors that activate (adrenergic) or inactivate (cholinergic) adenylyl cyclase (AC). However, these opposing afferents are not simply additive. We showed that activation of adrenergic signaling increases AC-cAMP/PKA signaling, which mediates the increase in the SANC AP firing rate (i.e., positive chronotropic modulation)...
2016: Frontiers in Physiology
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures...
2016: Molecular Cytogenetics
Ying Xue, Min Gao, Yiqing Gao
The universal endocrine pathological state affecting young individuals and adults is type 2 diabetes mellitus, which has seen a significant increase in the last 30 years, particularly in children. Genetic and evnironmental factors are the causative agents for this pathological state in children. This rapid and wide spread of the disease can be controlled by enforcing amendments in environmental factors such as diet, physical activities and obesity. In young infants breastfeeding may be a key modulator of the disease...
October 2016: Experimental and Therapeutic Medicine
Paul S Chan, Robert A Berg, Yuanyuan Tang, Lesley H Curtis, John A Spertus
Importance: Therapeutic hypothermia is used for patients following both out-of-hospital and in-hospital cardiac arrest. However, randomized trials on its efficacy for the in-hospital setting do not exist, and comparative effectiveness data are limited. Objective: To evaluate the association between therapeutic hypothermia and survival after in-hospital cardiac arrest. Design, Setting, and Patients: In this cohort study, within the national Get With the Guidelines-Resuscitation registry, 26 183 patients successfully resuscitated from an in-hospital cardiac arrest between March 1, 2002, and December 31, 2014, and either treated or not treated with hypothermia at 355 US hospitals were identified...
October 4, 2016: JAMA: the Journal of the American Medical Association
Samy L Habib, Noor Y Al-Obaidi, Maciej Nowacki, Katarzyna Pietkun, Barbara Zegarska, Tomasz Kloskowski, Wojciech Zegarski, Tomasz Drewa, Edward A Medina, Zhenze Zhao, Sitai Liang
Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders. TSC is caused by defects or mutations in two genes, TSC1 and TSC2. Loss of TSC1/TSC2 leads to dysregulation of mTOR, resulting in aberrant cell differentiation and development, and abnormal enlargement of cells...
2016: Journal of Cancer
Nissar Shaikh, M A Rhaman, Ali Raza, Adel Shabana, Mahommad Faisal Malstrom, Ghanem Al-Sulaiti
BACKGROUND: High spinal cord injury (HSCI) is one of the devastating traumatic injuries. 80% of these patients are young male, and 93% will have major neurological disabilities. There is a paucity of literature about prolonged bradycardia in HSCI patients. The aim of this study was to know the prevalence, risk factors, precipitating factors for prolonged bradycardia in the HSCI patients. MATERIALS AND METHODS: All patients who were admitted to the Intensive Care Unit (ICU) of a tertiary hospital, with spinal cord injury above level of dorsal (D4) were enrolled in this study prospectively...
October 2016: Asian Journal of Neurosurgery
Jorrit S Lemkes, Gladys N Janssens, Heleen M Oudemans-van Straaten, Paul W Elbers, Nina W van der Hoeven, Jan G P Tijssen, Luuk C Otterspoor, Michiel Voskuil, Joris J van der Heijden, Martijn Meuwissen, Tom A Rijpstra, Georgios J Vlachojannis, Raoul M van der Vleugel, Koen Nieman, Lucia S D Jewbali, Gabe B Bleeker, Rémon Baak, Bert Beishuizen, Martin G Stoel, Pim van der Harst, Cyril Camaro, José P S Henriques, Maarten A Vink, Marcel T M Gosselink, Hans A Bosker, Harry J G M Crijns, Niels van Royen
BACKGROUND: Ischemic heart disease is a major cause of out-of-hospital cardiac arrest. The role of immediate coronary angiography (CAG) and percutaneous coronary intervention (PCI) after restoration of spontaneous circulation following cardiac arrest in the absence of ST-segment elevation myocardial infarction (STEMI) remains debated. HYPOTHESIS: We hypothesize that immediate CAG and PCI, if indicated, will improve 90-day survival in post-cardiac arrest patients without signs of STEMI...
October 2016: American Heart Journal
T M Yates, C L S Turner, H V Firth, J Berg, D T Pilz
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations...
September 13, 2016: Clinical Genetics
Paldeep S Atwal, C Macmurdo
Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features...
December 2015: Journal of Pediatric Genetics
Beth A Earhart, Marian E Williams, Irina Zamora, Linda Marie Randolph, Jodie K Votava-Smith, Stephanie N Marcy
Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11...
September 12, 2016: American Journal of Medical Genetics. Part A
Hussein Gazalah, Sarah Mantash, Naify Ramadan, Sawsan Al Lafi, Sally El Sitt, Hala Darwish, Hassan Azari, Lama Fawaz, Noël Ghanem, Kazem Zibara, Rose-Mary Boustany, Firas Kobeissy, Jihane Soueid
Traumatic brain injury (TBI) is one of the leading causes of death and disabilities worldwide. It affects approximately 1.5 million people each year and is associated with severe post-TBI symptoms such as sensory and motor deficits. Several neuro-therapeutic approaches ranging from cell therapy interventions such as the use of neural stem cells (NSCs) to drug-based therapies have been proposed for TBI management. Successful cell-based therapies are tightly dependent on reproducible preclinical animal models to ensure safety and optimal therapeutic benefits...
2016: Methods in Molecular Biology
Guodong Han, Shu Zhang, Yunwei Dong
Organisms on the rocky shore frequently suffer from high temperature, which consequently causes disability of cardiac function and retards the cellular oxygen delivery. However, some gastropods can survive in several Celsius degrees higher than their Arrhenius break temperature of cardiac function (ABT), indicating the importance of anaerobic metabolism for their thermal tolerance. We measured the global molecular responses to heat stress in limpet Cellana toreuma using 454 GS-FLX to investigate the variations of genes involving in anaerobic metabolism at high temperature...
September 5, 2016: Integrative Zoology
Rajesh K Jain, Betsy Bennet, Tamara Vokes
Cardiac transplantation is associated with a high risk of fracture. African Americans (AAs) are believed to have a lower risk of osteoporosis than Caucasians, but it is not clear whether they are also protected from osteoporosis resulting from the use of glucocorticoids and/or organ transplantation. We examined possible ethnic differences in 33 cardiac transplant recipients (16 AAs) in a cross-sectional analysis. In addition to bone mineral density and vertebral fracture assessment, we also compared biochemical variables, trabecular bone score, total body dual-energy X-ray absorptiometry, and disability...
August 29, 2016: Journal of Clinical Densitometry
Jacek Piątek, Anna Kędziora, Janusz Konstanty-Kalandyk, Grzegorz Kiełbasa, Marta Olszewska, Karol Wierzbicki, Irena Milaniak, Bryan HyoChan Song, Bogusław Kapelak, Tomasz Darocha
BACKGROUND: Coronary artery disease (CAD) is a major cause of death and disability in developed countries. Despite the fact that prevalence accrues with age, an increasing number of young patients suffering from CAD is being observed worldwide. The aim of this study is to describe the population of young adults suffering from CAD and requiring coronary artery bypass grafting (CABG), and to assess early outcomes after the procedure. METHODS: A retrospective cohort study analyzed 190 consecutive patients aged ≤50 years old that underwent CABG between 2010 and 2014...
August 22, 2016: Heart Surgery Forum
Antonios Bayas, Katrin Schuh, Monika Baier, Stefan Viktor Vormfelde
OBJECTIVES: Approximately one in two patients with multiple sclerosis (MS) suffer from comorbid depression. The primary objective of this study was to evaluate the safety and tolerability of fingolimod and antidepressant combination in relapsing-remitting MS patients with mild-to-moderate depression. Efficacy outcome variables were quality of life (QoL), fatigue, disability and depression. METHODS: Patients received open-label fingolimod 0.5 mg over 2 weeks, followed by fingolimod plus citalopram (40 mg), fluoxetine (40 mg) or venlafaxine (150 mg) over 16 weeks...
September 2016: Therapeutic Advances in Neurological Disorders
Bruno-Pierre Dubé, Piergiuseppe Agostoni, Pierantonio Laveneziana
Exertional dyspnoea is among the dominant symptoms in patients with chronic heart failure and progresses relentlessly as the disease advances, leading to reduced ability to function and engage in activities of daily living. Effective management of this disabling symptom awaits a better understanding of its underlying physiology.Cardiovascular factors are believed to play a major role in dyspnoea in heart failure patients. However, despite pharmacological interventions, such as vasodilators or inotropes that improve central haemodynamics, patients with heart failure still complain of exertional dyspnoea...
September 2016: European Respiratory Review: An Official Journal of the European Respiratory Society
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