keyword
MENU ▼
Read by QxMD icon Read
search

clinical pathophysiology

keyword
https://www.readbyqxmd.com/read/29457878/genetic-determinants-of-heart-failure-facts-and-numbers
#1
EDITORIAL
Frauke S Czepluch, Bernd Wollnik, Gerd Hasenfuß
The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing...
February 19, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29457676/subthalamic-nucleus-pathology-contributes-to-repetitive-behavior-expression-and-is-reversed-by-environmental-enrichment
#2
Mark H Lewis, Zsuzsa Buchwald, Kathryn Boswell, Gabriella Edington, Michael A King, Amber M Muehlmann
Repetitive motor behaviors are common in neurodevelopmental, psychiatric, and neurological disorders. Despite their prevalence in certain clinical populations, our understanding of the neurobiological cause of repetitive behavior is lacking. Likewise, not knowing the pathophysiology has precluded efforts to find effective drug treatments. Our comparisons between mouse strains that differ in their expression of repetitive behavior revealed an important role of the subthalamic nucleus. In mice with high rates of repetitive behavior, we found significant differences in dendritic spine density, gene expression, and neuronal activation in the subthalamic nucleus...
February 19, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29457272/atopic-dermatitis-in-diverse-racial-and-ethnic-groups-variations-in-epidemiology-genetics-clinical-presentation-and-treatment
#3
REVIEW
Bridget P Kaufman, Emma Guttman-Yassky, Andrew F Alexis
Atopic dermatitis (AD) is a chronic inflammatory skin condition that affects diverse ethnic groups with varying prevalence. Despite a predominance of studies in individuals of European ancestry, AD has been found to occur more frequently in Asian and black individuals than whites. Therefore, an understanding of the unique clinical features of AD in diverse ethnic groups, as well as the differences in genetic polymorphisms that influence susceptibility to AD and response to current therapies, is paramount for management of an increasingly diverse patient population...
February 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29457141/extrahepatic-toxicity-of-acetaminophen-critical-evaluation-of-the-evidence-and-proposed-mechanisms
#4
Stefanie Kennon-McGill, Mitchell R McGill
Research on acetaminophen (APAP) toxicity over the last several decades has focused on the pathophysiology of liver injury, but increasing attention is being paid to other known and possible adverse effects. It has been known for decades that APAP causes acute kidney injury, but confusion exists regarding prevalence, and the mechanisms have not been well investigated. More recently, a number of experimental, clinical and epidemiological studies have reported evidence for pulmonary, endocrine, neurological and neurodevelopmental toxicity, but the quality of evidence from those studies varies...
January 15, 2018: Journal of Clinical and Translational Research
https://www.readbyqxmd.com/read/29456869/cognitive-fluctuations-in-parkinson-s-disease-dementia-blood-pressure-lability-as-an-underlying-mechanism
#5
David E Riley, Alberto J Espay
Background: Cognitive fluctuations refer to alterations in cognition, attention, or arousal occurring over minutes to hours, most commonly in patients with dementias associated with advanced Lewy body pathology. Their pathophysiologic underpinning remains undetermined. Case presentation: We documented serial blood pressure (BP) measurements in an 86-year-old man with Parkinson's disease dementia experiencing cognitive fluctuations during an office visit. This patient's associated dysautonomia included labile BP with orthostatic hypotension and nocturnal hypertension...
2018: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/29456774/gastric-aspiration-and-its-role-in-airway-inflammation
#6
REVIEW
E B Hunt, A Sullivan, J Galvin, J MacSharry, D M Murphy
Gastro-Oesophageal Reflux (GOR) has been associated with chronic airway diseases while the passage of foreign matter into airways and lungs through aspiration has the potential to initiate a wide spectrum of pulmonary disorders. The clinical syndrome resulting from such aspiration will depend both on the quantity and nature of the aspirate as well as the individual host response. Aspiration of gastric fluids may cause damage to airway epithelium, not only because acidity is toxic to bronchial epithelial cells but also due to the effect of digestive enzymes such as pepsin and bile salts...
2018: Open Respiratory Medicine Journal
https://www.readbyqxmd.com/read/29456046/the-spectrum-of-off-in-parkinson-s-disease-what-have-we-learned-over-40-years
#7
REVIEW
Kelvin L Chou, Mark Stacy, Tanya Simuni, Janis Miyasaki, Wolfgang H Oertel, Kapil Sethi, Hubert H Fernandez, Fabrizio Stocchi
The terms "on" and "off" were used by Marsden and his contemporaries over 40 years ago to describe times when Parkinson's disease patients experienced good motor function ("on") and immobility ("off"). Yet there remains no published consensus definition of "off", leading clinicians and patients to develop individualized impressions of "off" determinations. In this paper, we first discuss the evolution of the terminology and understanding of "off" states since Marsden's time, which now include non-motor as well as motor symptoms...
February 2, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29455950/sex-differences-in-atrial-fibrillation
#8
REVIEW
Jason G Andrade, Marc W Deyell, Andrea Y K Lee, Laurent Macle
Atrial fibrillation (AF) is a chronic progressive disease characterized by exacerbations and remissions. It remains the most common sustained arrhythmia seen in clinical practice, and represents a major burden to health care systems. Similar to other cardiovascular conditions, significant sex-specific differences have been observed in the epidemiology (lower rate of prevalence in women, women present at a later age), pathophysiology (sex-related differences in AF triggers and substrate), clinical presentation (women are more likely symptomatic, with relatively more severe symptoms), and natural history...
December 6, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29455932/a-paradigm-shift-on-beta-thalassaemia-treatment-how-will-we-manage-this-old-disease-with-new-therapies
#9
REVIEW
Maria Domenica Cappellini, John B Porter, Vip Viprakasit, Ali T Taher
Beta-thalassaemia causes defective haemoglobin synthesis leading to ineffective erythropoiesis, chronic haemolytic anaemia, and subsequent clinical complications. Blood transfusion and iron chelation allow long-term disease control, and haematopoietic stem cell transplantation offers a potential cure for some patients. Nonetheless, there are still many challenges in the management of beta-thalassaemia. The main treatment option for most patients is supportive care; furthermore, the long-term efficacy and safety of current therapeutic strategies are limited and adherence is suboptimal...
February 12, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29455790/insertion-deletion-polymorphism-of-ace-gene-in-females-with-peripartum-cardiomyopathy-a-case-control-study
#10
Irfan Yaqoob, Nisar A Tramboo, Irfan A Bhat, Arshad Pandith, Jahangir R Beig, Imran Hafeez, Aijaz A Lone, Tariq R Shah, Sumera Samreen
BACKGROUND: The role of polymorphism of Angiotensin converting enzyme (ACE) gene and ACE activity in etiopathogenesis, prognosis, and many other clinical parameters in the various form of the cardiovascular disease has been established to some degree of certainty. The pathophysiology of Peripartum cardiomyopathy (PPCM) remains an area of active research. The main aim of our study was to see pattern of ACE- Insertion/Deletion (I/D) allele in PPCM and its implications on left ventricular performance indices...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29455359/eosinophilic-esophagitis-an-important-comorbid-condition-of-asthma
#11
REVIEW
Sandy R Durrani, Vincent A Mukkada, Theresa W Guilbert
Eosinophilic esophagitis and asthma are frequently found as comorbid conditions in children and adults along with other manifestations of atopic diathesis. These two conditions have similar T helper 2 responses-driven pathophysiology and share common management strategies such as using systemic corticosteroids and targeted anti-cytokine biologic therapies. Review of the literature finds that asthma is often a comorbid condition in eosinophilic esophagitis in both children and adults; however, the EoE-asthma relationship remains poorly characterized mechanistically and clinically...
February 18, 2018: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/29455180/takotsubo-syndrome-in-a-premenopausal-patient
#12
Maria Menezes, Daniela Marto, Isabel Marcão, Catarina Salvado
Takotsubo syndrome is a rare clinical condition, with a pathophysiology that is not fully understood. Characterised by an acute and usually reversible heart failure, the condition is often preceded by a stressful event. For the diagnosis of Takotsubo syndrome to be possible, the absence of coronary artery disease as a cause is required. We report a case of Takotsubo syndrome in a 47-year-old woman of fertile age. Electrical and echocardiographic presentations were classical in the patient. However, abnormally elevated cardiac biomarkers were registered...
February 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29454751/strain-dependent-variation-in-acute-ischemic-muscle-injury
#13
Cameron A Schmidt, Adam J Amorese, Terence E Ryan, Emma J Goldberg, Michael D Tarpey, Thomas D Green, Reema R Karnekar, Dean J Yamaguchi, Espen E Spangenburg, Joseph M McClung
Limited efficacy of clinical interventions for peripheral arterial disease (PAD) necessitates a better understanding of the environmental and genetic determinants of tissue pathology. Existing research has largely ignored the early skeletal muscle injury response during hindlimb ischemia (HLI). We compared the hindlimb muscle response, following six hours of ischemia, in two mouse strains that differ dramatically in their post-ischemic extended recovery: C57BL/6J and BALB/cJ. Perfusion, measured by laser Doppler and normalized to the control limb, differed only slightly between strains following HLI (<12% across all measures)...
February 15, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29454750/a-newly-discovered-antifibrotic-pathway-regulated-by-two-fatty-acid-receptors-gpr40-and-gpr84
#14
Lyne Gagnon, Martin Leduc, Jean-Francois Thibodeau, Ming-Zhi Zhang, Brigitte Grouix, Francois Sarra-Bournet, William Gagnon, Kathy Hince, Mikaël Tremblay, Lilianne Geerts, Christopher R J Kennedy, Richard L Hébert, Alex Gutsol, Chet E Holterman, Eldjonai Kamto, Liette Gervais, Jugurtha Ouboudinar, Jonathan Richard, Alexandra Felton, Alexandre Laverdure, Jean-Christophe Simard, Sylvie Létourneau, Marie-Pier Cloutier, Francois A Leblond, Shaun D Abbott, Christopher Penney, Jean-Simon Duceppe, Boulos Zacharie, Jocelyn Dupuis, Angelino Calderone, Quang Trinh Nguyen, Raymond C Harris, Pierre Laurin
Numerous clinical conditions can lead to organ fibrosis and functional failure. There is a great need for therapies that could effectively target pathophysiological pathways involved in fibrosis. GPR40 and GPR84 are G protein-coupled receptors with free fatty acid ligands and are associated with metabolic and inflammatory disorders. Although GPR40 and GPR84 are involved in diverse physiological processes, no evidence has demonstrated the relevance of GPR40 and GPR84 in fibrosis pathways. Using PBI-4050 (3-pentylbenzeneacetic acid sodium salt), a synthetic analog of a medium-chain fatty acid that displays agonist and antagonist ligand affinity toward GPR40 and GPR84, respectively, we uncovered an antifibrotic pathway involving these receptors...
February 15, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29454581/emerging-roles-of-microglial-cathepsins-in-neurodegenerative-disease
#15
REVIEW
Jessica R Lowry, Andis Klegeris
Alzheimer's disease (AD) is one of the leading causes of dementia, and its prevalence is expected to increase dramatically due to the aging global population. Microglia-driven neuroinflammation may contribute to the progression of AD. Microglia, the immune cells of the central nervous system (CNS), become chronically activated by the pathological proteins of AD including amyloid-β peptides (Aβ). Such adversely activated microglia secrete mediators that promote inflammation and damage neurons. Cathepsins are proteases that are expressed by all brain cell types, and most of them are found both intra- and extra-cellularly...
February 15, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29454494/historical-perspectives-on-tardive-dyskinesia
#16
REVIEW
Stanley N Caroff, Gabor S Ungvari, David G Cunningham Owens
Tardive dyskinesia (TD) is a persistent hyperkinetic movement disorder associated with dopamine receptor blocking agents including antipsychotic medications. Although uncertainty and concern about this drug side effect has vacillated since its initial recognition 60 years ago, recent commercial interest in developing effective treatments has rekindled scientific and clinical interest after a protracted period of neglect. Although substantial research has advanced knowledge of the clinical features and epidemiology of TD, many fundamental questions raised by early investigators remain unresolved...
February 3, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29454489/basal-cell-nevus-syndrome-gorlin-syndrome-genetic-insights-diagnostic-challenges-and-unmet-milestones
#17
Maryam Akbari, Harold Chen, Grace Guo, Zachary Legan, Ghali Ghali
In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet challenges and advancements in the management of Gorlin syndrome and to provide a new clinical perspective and guidance for future research...
January 31, 2018: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/29454180/tryptophan-kynurenine-and-lipid-related-metabolites-as-blood-biomarkers-for-first-episode-drug-na%C3%A3-ve-patients-with-major-depressive-disorder-an-exploratory-pilot-case-control-study
#18
Nobuki Kuwano, Takahiro A Kato, Daiki Setoyama, Mina Sato-Kasai, Norihiro Shimokawa, Kohei Hayakawa, Masahiro Ohgidani, Noriaki Sagata, Hiroaki Kubo, Junji Kishimoto, Dongchon Kang, Shigenob Kanba
BACKGROUND: Early intervention in depression has been critical to prevent its negative impact including suicide. Recent blood biomarker studies for major depressive disorder (MDD) have suggested that tryptophan-kynurenine and lipid related metabolites are involved in the pathophysiology of MDD. However, there have been limited studies investigating these blood biomarkers in first-episode drug-naïve MDD, which are particularly important for early intervention in depression. METHODS: As an exploratory pilot case-control study, we examined the above blood biomarkers, and analyzed how these biomarkers are associated with clinical variables in first-episode drug-naïve MDD patients, based on metabolome/lipidome analysis...
January 31, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29454137/mechanisms-and-management-of-refractory-ventricular-arrhythmias-in-the-age-of-autonomic-modulation
#19
Jason S Bradfield, Olujimi A Ajijola, Marmar Vaseghi, Kalyanam Shivkumar
Ventricular arrhythmias are responsible for hundreds of thousands of deaths every year. Catheter ablation of ventricular tachycardia (VT) is an essential component of the management of these life-threatening arrhythmias. However, in many patients, despite medical and interventional therapy, VT recurs. Further, some VT substrates (mid-myocardial, left ventricular summit, intra-septal) are not easily targeted, due to limitations of currently available technology. In certain clinical settings, ventricular fibrillation (VF) episodes that have premature ventricular contraction (PVC) triggers can also be targeted with catheter ablation...
February 14, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29454114/mitochondria-targeting-mitochondrial-reactive-oxygen-species-with-mitochondriotropic-polyphenolic-based-antioxidants
#20
José Teixeira, Cláudia M Deus, Fernanda Borges, Paulo J Oliveira
Mitochondrial function and regulation of redox balance is fundamental in controlling cellular life and death pathways. Antioxidants have been used to counteract disruption of redox networks, normally associated with progressive loss of cell homeostasis and disease pathophysiology, although therapeutic success is limited mainly due to pharmacokinetic drawbacks. Attempts to improve mitochondrial function in a range of diseases spurred active drug discovery efforts. Currently, the most effective strategy to deliver drugs to mitochondria is the covalent link of lipophilic cations to the bioactive compound...
February 14, 2018: International Journal of Biochemistry & Cell Biology
keyword
keyword
57465
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"