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Neurotherapeutics : the Journal of the... Apr 2007Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS... (Review)
Review
Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1. The skeletal muscle and cardiac symptoms are accounted for, in most cases, by a dominant negative effect of the mutations on potassium channel current, resulting in prolonged depolarization of the action potential. Mechanisms of disruption of channel function include abnormal trafficking and assembly of second messengers such as phosphatidylinositol 4,5-bisphosphate, abnormal gating of the channel, and incorrect folding of the Kir2.1 protein. Less apparent is the mechanism by which these mutations account for the typical facial and skeletal abnormalities. The concomitant involvement of cardiac and skeletal muscle in ATS poses unique treatment and management challenges. Because of differences in cardiac and skeletal muscle physiology, drugs that may have a beneficial effect on cardiac function may have a detrimental effect on skeletal muscle and vice versa. We review the clinical, laboratory, and genetic features of this disorder with particular emphasis on treatment and management.
Topics: Andersen Syndrome; Animals; Disease Models, Animal; Heart; Humans; Muscle, Skeletal; Mutation; Potassium Channels, Inwardly Rectifying
PubMed: 17395133
DOI: 10.1016/j.nurt.2007.01.005 -
Clinical Epidemiology 2016The Danish National Multiple Myeloma Registry (DMMR) is a population-based clinical quality database established in January 2005. The primary aim of the database is to... (Review)
Review
AIM
The Danish National Multiple Myeloma Registry (DMMR) is a population-based clinical quality database established in January 2005. The primary aim of the database is to ensure that diagnosis and treatment of plasma cell dyscrasia are of uniform quality throughout the country. Another aim is to support research. Patients are registered with their unique Danish personal identification number, and the combined use of DMMR, other Danish National registries, and the Danish National Cancer Biobank offers a unique platform for population-based translational research.
STUDY POPULATION
All newly diagnosed patients with multiple myeloma (MM), smoldering MM, solitary plasmacytomas, and plasma cell leukemia in Denmark are registered annually; ~350 patients. Amyloid light-chain amyloidosis, POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome), monoclonal gammopathy of undetermined significance and monoclonal gammopathy of undetermined significance with polyneuropathy have been registered since 2014.
MAIN VARIABLES
The main registered variables at diagnosis are patient demographics, baseline disease characteristics, myeloma-defining events, clinical complications, prognostics, first- and second-line treatments, treatment responses, progression free, and overall survival.
DESCRIPTIVE DATA
Up to June 2015, 2,907 newly diagnosed patients with MM, 485 patients with smoldering MM, 64 patients with plasma cell leukemia, and 191 patients with solitary plasmacytomas were registered. Registration completeness of new patients is ~100%. A data validation study performed in 2013-2014 by the Danish Myeloma Study Group showed >95% data correctness.
CONCLUSION
The DMMR is a population-based data validated database eligible for clinical, epidemiological, and translational research.
PubMed: 27822103
DOI: 10.2147/CLEP.S99463 -
Nutrients Sep 2015Inflammation is a normal acute response of the immune system to pathogens and tissue injury. However, chronic inflammation is known to play a significant role in the... (Review)
Review
Inflammation is a normal acute response of the immune system to pathogens and tissue injury. However, chronic inflammation is known to play a significant role in the pathophysiology of numerous chronic diseases, such as cardiovascular disease, type 2 diabetes mellitus, and cancer. Thus, the impact of dietary factors on inflammation may provide key insight into mitigating chronic disease risk. Eggs are recognized as a functional food that contain a variety of bioactive compounds that can influence pro- and anti-inflammatory pathways. Interestingly, the effects of egg consumption on inflammation varies across different populations, including those that are classified as healthy, overweight, metabolic syndrome, and type 2 diabetic. The following review will discuss the pro- and anti-inflammatory properties of egg components, with a focus on egg phospholipids, cholesterol, the carotenoids lutein and zeaxanthin, and bioactive proteins. The effects of egg consumption of inflammation across human populations will additionally be presented. Together, these findings have implications for population-specific dietary recommendations and chronic disease risk.
Topics: Chronic Disease; Comorbidity; Diet; Dietary Fats; Egg Proteins, Dietary; Eggs; Functional Food; Health Status; Humans; Inflammation; Inflammation Mediators; Risk Factors
PubMed: 26389951
DOI: 10.3390/nu7095372 -
Therapeutic Advances in Endocrinology... 2020Hypoglycaemia remains an inevitable risk in insulin-treated type 1 diabetes and type 2 diabetes and has been associated with multiple adverse outcomes. Whether... (Review)
Review
Hypoglycaemia remains an inevitable risk in insulin-treated type 1 diabetes and type 2 diabetes and has been associated with multiple adverse outcomes. Whether hypoglycaemia is a cause of fatal cardiac arrhythmias in diabetes, or merely a marker of vulnerability, is still unknown. Since a pivotal report in 1991, hypoglycaemia has been suspected to induce cardiac arrhythmias in patients with type 1 diabetes, the so-called 'dead-in-bed syndrome'. This suspicion has subsequently been supported by the coexistence of an increased mortality and a three-fold increase in severe hypoglycaemia in patients with type 2 diabetes receiving intensive glucose-lowering treatment in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial. Studies have investigated the association between hypoglycaemia-induced cardiac arrhythmias. In a rat-model, severe hypoglycaemia resulted in a specific pattern of cardiac arrhythmias including QT-prolongation, ventricular tachycardia, second- and third-degree AV block and ultimately cardiorespiratory arrest. In clinical studies of experimentally induced hypoglycaemia, QTc-prolongation, a risk factor of ventricular arrhythmias, is an almost consistent finding. The extent of QT-prolongation seems to be modified by several factors, including antecedent hypoglycaemia, diabetes duration and cardiac autonomic neuropathy. Observational studies indicate diurnal differences in the pattern of electrocardiographic alterations during hypoglycaemia with larger QTc-prolongations during daytime, whereas the risk of bradyarrhythmias may be increased during sleep. Daytime periods of hypoglycaemia are characterized by shorter duration, increased awareness and a larger increase in catecholamines. The counterregulatory response is reduced during nightly episodes of hypoglycaemia, resulting in prolonged periods of hypoglycaemia with multiple nadirs. An initial sympathetic activity at plasma glucose nadir is replaced by increased vagal activity, which results in bradycardia. Here, we provide an overview of the existing literature exploring potential mechanisms for hypoglycaemia-induced cardiac arrhythmias and studies linking hypoglycaemia to cardiac arrhythmias in patients with diabetes.
PubMed: 32489579
DOI: 10.1177/2042018820911803 -
Ugeskrift For Laeger Sep 2022The use of peripheral nerve blocks carries a small risk of most often temporary direct damage to the peripheral nerves. Due to lack of research and differing opinions... (Review)
Review
The use of peripheral nerve blocks carries a small risk of most often temporary direct damage to the peripheral nerves. Due to lack of research and differing opinions regarding the potential of nerve blocks delaying the diagnosis of acute compartment syndrome, there is currently no consensus between anaesthetic- and orthopaedic associations regarding the use of peripheral nerve blocks in patients at risk of acute compartment syndrome. More interdisciplinary research is needed to inform and promote an evidence-based discussion of the subject, as argued in this review.
Topics: Anesthesia, Conduction; Compartment Syndromes; Humans; Nerve Block; Peripheral Nerves
PubMed: 36205160
DOI: No ID Found -
Texas Heart Institute Journal 2009Andersen-Tawil syndrome is an autosomal dominant condition characterized by dysmorphic features, periodic paralysis, and ventricular arrhythmias. Twiddler syndrome is...
Andersen-Tawil syndrome is an autosomal dominant condition characterized by dysmorphic features, periodic paralysis, and ventricular arrhythmias. Twiddler syndrome is characterized by intentional or inadvertent manipulation of implanted devices in the pacemaker pocket. We describe an unusual case of an 8-year-old girl who had both syndromes.
Topics: Andersen Syndrome; Child; Defibrillators, Implantable; Electric Countershock; Electrocardiography, Ambulatory; Equipment Failure; Female; Foreign-Body Migration; Humans; Radiography; Treatment Outcome
PubMed: 19693314
DOI: No ID Found -
Current Cardiology Reviews Aug 2014Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and... (Review)
Review
Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified in patients with ATS. This genotype has been designated as type-1 ATS (ATS1). KCNJ2 mutations are detectable in up to 60 % of patients with ATS. Cardiac manifestations of ATS include frequent premature ventricular contractions (PVC), Q-U interval prolongation, prominent U-waves, and a special type of polymorphic ventricular tachycardia (PMVT) called bidirectional ventricular tachycardia (BiVT). The presence of frequent PVCs at rest are helpful in distinguishing ATS from typical catecholaminergic polymorphic ventricular tachycardia (CPVT). In typical CPVT, rapid PMVT and BiVT usually manifest during or after exercising. Additionally, CPVT or torsade de pointes in LQTS are faster, very symptomatic causing syncope or often deteriorate into VF resulting in sudden cardiac death. PVCs at rest are quite frequent in ATS1 patients, however, in LQTS patients, PVCs and asymptomatic VT are uncommon which also contributes to differentiating them. The article describes the new electrocardiographic criteria proposed for diagnosis of type-1 Andersen-Tawil syndrome. A differential diagnosis between Andersen-Tawil syndrome, the catecholamine polymorphic ventiruclar tachycardia and long QT syndrome is depicted. Special attention is paid on the repolarization abnormalities, QT interval and the pathologic U wave. In this article, we aim to provide five new electrocardiographic clues for the diagnosis of ATS1.
Topics: Andersen Syndrome; Diagnosis, Differential; Electrocardiography; Genotype; Humans; Long QT Syndrome; Mutation; Potassium Channels, Inwardly Rectifying; Tachycardia, Ventricular
PubMed: 24827800
DOI: 10.2174/1573403x10666140514102528 -
Journal of the American College of... Apr 2020Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of...
BACKGROUND
Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported.
OBJECTIVES
This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1.
METHODS
Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis.
RESULTS
We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00).
CONCLUSIONS
Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1.
Topics: Adolescent; Adrenergic beta-Antagonists; Adult; Amiodarone; Andersen Syndrome; Anti-Arrhythmia Agents; Arrhythmias, Cardiac; Child; Child, Preschool; Databases, Factual; Death, Sudden, Cardiac; Defibrillators, Implantable; Electrocardiography; Female; Genetic Testing; Humans; Infant; Male; Middle Aged; Muscle Weakness; Mutation; Potassium Channels, Inwardly Rectifying; Risk Assessment; Syncope; Tachycardia, Ventricular; Young Adult
PubMed: 32299589
DOI: 10.1016/j.jacc.2020.02.033 -
Ugeskrift For Laeger Oct 2016Lumbar spinal stenosis is the most common reason for spinal surgery in Denmark. Lumbar spinal stenosis is a clinical syndrome of pain in the buttocks or lower... (Review)
Review
Lumbar spinal stenosis is the most common reason for spinal surgery in Denmark. Lumbar spinal stenosis is a clinical syndrome of pain in the buttocks or lower extremities, with or without back pain. It is associated with reduced space available for the neural and vascular elements of the lumbar spine. The condition is often exacerbated by standing, walking or lumbar extension and relieved by forward flexion. The options for non-surgical management include drugs and physiotherapy. Treatment outcomes seem to be better for surgical neural decompression than for non-operative treatment.
Topics: Decompression, Surgical; Denmark; Humans; Lumbar Vertebrae; Magnetic Resonance Imaging; Quality of Life; Spinal Stenosis; Treatment Outcome
PubMed: 27745582
DOI: No ID Found -
Tidsskrift For Den Norske Laegeforening... Jun 2008CHARGE syndrome is a rare congenital condition with multiple malformations. The acronym CHARGE summarizes six cardinal features: Coloboma, Heart defect, Atresia choanae,... (Review)
Review
BACKGROUND
CHARGE syndrome is a rare congenital condition with multiple malformations. The acronym CHARGE summarizes six cardinal features: Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital anomalies and Ear anomalies/deafness. Our aim is to present an update on clinical presentation, genetics and behavioural aspects in the CHARGE syndrome. Furthermore, we give recommendations regarding multidisciplinary management.
MATERIAL AND METHOD
The article is based on selected references retrieved from PubMed and the authors' own experience in following this patient group.
RESULTS AND INTERPRETATION
The CHARGE syndrome has an estimated incidence of 1 : 10 000. About 60 % of the patients have mutations in a recently characterized gene ( CHD7: ). C: oloboma, C: hoanal atresia and abnormal semicircular C:anals (3C-triad) are the most specific malformations. Serious cardiovascular and respiratory tract malformations also occur frequently and may be life-threatening, especially in the first year of life. Multiple cranial nerve dysfunctions affect sense of smell, swallowing, facial palsy and sensorineural hearing loss. CHARGE syndrome is recognized as one of the most common causes of dual sensory impairment (vision and hearing). Mental retardation is common, but a substantial group of patients only have limited intellectual impairment. Some patients have a distinct behavioural profile and specific cognitive problems. Coordinated multidisciplinary medical follow-up is needed. The combined sensory loss may render the rehabilitation offered for deaf and blind useful for these patients.
Topics: Abnormalities, Multiple; Child; Child Development; Choanal Atresia; Coloboma; DNA Helicases; DNA-Binding Proteins; Developmental Disabilities; Ear; Face; Heart Defects, Congenital; Humans; Infant; Mutation; Radiography; Syndrome
PubMed: 18552902
DOI: No ID Found