Andersen Syndrome: A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.Air Microbiology: The presence of bacteria, viruses, and fungi in the air. This term is not restricted to pathogenic organisms.Syndrome: A characteristic symptom complex.Aerosols: Colloids with a gaseous dispersing phase and either liquid (fog) or solid (smoke) dispersed phase; used in fumigation or in inhalation therapy; may contain propellant agents.Potassium Channels, Inwardly Rectifying: Potassium channels where the flow of K+ ions into the cell is greater than the outward flow.Hypokalemic Periodic Paralysis: An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)Long QT Syndrome: A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.Jervell-Lange Nielsen Syndrome: A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Channelopathies: A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.Refractory Period, Electrophysiological: The period of time following the triggering of an ACTION POTENTIAL when the CELL MEMBRANE has changed to an unexcitable state and is gradually restored to the resting (excitable) state. During the absolute refractory period no other stimulus can trigger a response. This is followed by the relative refractory period during which the cell gradually becomes more excitable and the stronger impulse that is required to illicit a response gradually lessens to that required during the resting state.Blepharospasm: Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle.Electric Stimulation: Use of electric potential or currents to elicit biological responses.Copyright: It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)Equipment Reuse: Further or repeated use of equipment, instruments, devices, or materials. It includes additional use regardless of the original intent of the producer as to disposability or durability. It does not include the repeated use of fluids or solutions.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Biochemical Processes: Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Laboratories: Facilities equipped to carry out investigative procedures.Systems Biology: Comprehensive, methodical analysis of complex biological systems by monitoring responses to perturbations of biological processes. Large scale, computerized collection and analysis of the data are used to develop and test models of biological systems.Biology: One of the BIOLOGICAL SCIENCE DISCIPLINES concerned with the origin, structure, development, growth, function, genetics, and reproduction of animals, plants, and microorganisms.EnglandSyndactyly: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.Martial Arts: Activities in which participants learn self-defense mainly through the use of hand-to-hand combat. Judo involves throwing an opponent to the ground while karate (which includes kung fu and tae kwon do) involves kicking and punching an opponent.Tai Ji: One of the MARTIAL ARTS and also a form of meditative exercise using methodically slow circular stretching movements and positions of body balance.Romano-Ward Syndrome: A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Orthodontics: A dental specialty concerned with the prevention and correction of dental and oral anomalies (malocclusion).Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.Myopathies, Structural, Congenital: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.Muscular Diseases: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.Myopathies, Nemaline: A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)Hemolytic Agents: Substances that are toxic to blood in general, including the clotting mechanism; hematotoxins may refer to the hematopoietic system.Myopathy, Central Core: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)Ileostomy: Surgical creation of an external opening into the ILEUM for fecal diversion or drainage. This replacement for the RECTUM is usually created in patients with severe INFLAMMATORY BOWEL DISEASES. Loop (continent) or tube (incontinent) procedures are most often employed.White Muscle Disease: A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (FABACEAE), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Orphan Drug Production: Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.Drug Repositioning: The deliberate and methodical practice of finding new applications for existing drugs.Waiting Lists: Prospective patient listings for appointments or treatments.Terminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.Lymphangioleiomyomatosis: A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).Lithiasis: A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.G Protein-Coupled Inwardly-Rectifying Potassium Channels: A family of inwardly-rectifying potassium channels that are activated by PERTUSSIS TOXIN sensitive G-PROTEIN-COUPLED RECEPTORS. GIRK potassium channels are primarily activated by the complex of GTP-BINDING PROTEIN BETA SUBUNITS and GTP-BINDING PROTEIN GAMMA SUBUNITS.Potassium: An element in the alkali group of metals with an atomic symbol K, atomic number 19, and atomic weight 39.10. It is the chief cation in the intracellular fluid of muscle and other cells. Potassium ion is a strong electrolyte that plays a significant role in the regulation of fluid volume and maintenance of the WATER-ELECTROLYTE BALANCE.Ion Channels: Gated, ion-selective glycoproteins that traverse membranes. The stimulus for ION CHANNEL GATING can be due to a variety of stimuli such as LIGANDS, a TRANSMEMBRANE POTENTIAL DIFFERENCE, mechanical deformation or through INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Calcium Channels: Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. (1/23)

BACKGROUND: The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2 mutations (ATS1) have not been systematically assessed. This study aimed to define ECG features of KCNJ2 mutation carriers, to determine whether characteristic T-U-wave patterns exist, and to establish whether T-U patterns predict the ATS1 genotype. METHODS AND RESULTS: In phase I, evaluation of T-U morphology in ECGs of 39 KCNJ2 mutation carriers identified characteristic T-U patterns: prolonged terminal T downslope, wide T-U junction, and biphasic and enlarged U waves. In phase II, ATS1 genotype prediction by T-U pattern was evaluated in the next 147 ECGs (57 other KCNJ2 mutation carriers, 61 unaffected family members, and 29 ATS patients without KCNJ2 mutations), with a sensitivity of 84% and specificity of 97%. Characteristic T-U patterns were present in 91% (87/96), in whom an enlarged U wave was predominant (73%). In phase III, QTc, QUc, and T- and U-wave duration/amplitude were compared in the 96 ATS1, 29 non-KCNJ2 ATS, and 75 normal subjects. In ATS1 patients, QUc, U-wave duration and amplitude, and QTc were all increased (P<0.001), but median QTc and interquartile range (IQR) were just 440 ms (IQR, 28 ms) compared with 420 ms (IQR, 20 ms) in normal subjects and 425 ms (IQR, 48 ms) in ATS non-KCNJ2 patients. CONCLUSIONS: In ATS1 patients, gene-specific T-U-wave patterns resulting from decreased IK1 owing to KCNJ2 mutations can aid diagnosis and direct genotyping. The normal QTc, distinct ECG, and other clinical features distinguish ATS1 from long-QT syndrome, and it is best designated as ATS1 rather than LQT7.  (+info)

Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). (2/23)

BACKGROUND: Andersen-Tawil syndrome, a skeletal muscle syndrome associated with periodic paralysis and long QT intervals on the ECG, has been linked to defects in KCNJ2, the gene encoding for the inward rectifier potassium channel (I(K1).) OBJECTIVES: The purpose of this study was to examine the cellular mechanisms underlying the ECG and arrhythmic manifestations of Andersen-Tawil syndrome. METHODS: To investigate the effects of KCNJ2 loss-of-function mutations responsible for Andersen-Tawil syndrome, we used barium chloride (BaCl(2)) to inhibit I(K1) in arterially perfused wedge preparation. Transmembrane action potentials (APs) were simultaneously recorded from endocardial, midmyocardial, and epicardial cells, together with a transmural ECG. RESULTS: BaCl(2) (1 to 30 microM) produced a concentration-dependent prolongation of the QT interval, secondary to a homogeneous prolongation of AP duration of the three cell types. QT interval was prolonged without an increase in transmural dispersion of repolarization (TDR). Low extracellular potassium (2.0 mM), isoproterenol (20-50 nM), and an abrupt increase in temperature (36 degrees C-39 degrees C) in the presence of 10 microM BaCl(2) did not significantly increase TDR but increased ectopic extrasystolic activity. Early afterdepolarizations were not observed under any condition. Spontaneous torsades de pointes arrhythmias were never observed, nor could they be induced with programmed electrical stimulation under any of the conditions studied. CONCLUSION: Our results provide an understanding of why QT prolongation associated with Andersen-Tawil syndrome is relatively benign in the clinic and provide further support for the hypothesis that the increase in TDR, rather than QT interval, is responsible for development of torsades de pointes.  (+info)

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. (3/23)

BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. This study sought to analyse KCNJ2 in patients with familial ATS and to determine the functional characteristics of the mutated gene. METHODS AND RESULTS: We screened a family with inherited ATS for the mutation in KCNJ2, using direct DNA sequencing. A missense mutation (T75R) of Kir2.1, located in the highly conserved cytoplasmic N-terminal domain, was identified in three affected members of this family. Using the Xenopus oocyte expression system and whole cell voltage clamp analyses, we found that the T75R mutant was non-functional and possessed a strong dominant negative effect when co-expressed with the same amount of wild type Kir2.1. Transgenic (Tg) mice expressing the mutated form of Kir2.1 in the heart had prolonged QTc intervals compared with mice expressing the wild type protein. Ventricular tachyarrhythmias were observed in 5 of 14 T75R-Tg mice compared with 1 of 7 Wt-Tg and none of 6 non-transgenic littermates. In three of five T75R-Tg mice with ventricular tachycardia, their ECG disclosed bidirectional tachycardia as in our proband. CONCLUSIONS: The in vitro studies revealed that the T75R mutant of Kir2.1 had a strong dominant negative effect in the Xenopus oocyte expression system. It still preserved the ability to co-assemble and traffic to the cell membrane in mammalian cells. For in vivo studies, the T75R-Tg mice had bidirectional ventricular tachycardia after induction and longer QT intervals.  (+info)

Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study. (4/23)

Patients with Andersen-Tawil syndrome (ATS) mostly have mutations on the KCNJ2 gene, producing loss of function or dominant-negative suppression of the inward rectifier K(+) channel Kir2.1. However, clinical manifestations of ATS including dysmorphic features, periodic paralysis (hypo-, hyper-, or normokalemic), long QT, and ventricular arrhythmias (VAs) are considerably variable. Using a modified dynamic Luo-Rudy simulation model of cardiac ventricular myocytes, we attempted to elucidate mechanisms of VA in ATS by analyzing effects of the inward rectifier K(+) channel current (I(K1)) on the action potential (AP). During pacing at 1.0 Hz with extracellular K(+) concentration ([K(+)](o)) at 4.5 mM, a stepwise 10% reduction of Kir2.1 channel conductance progressively prolonged the terminal repolarization phase of the AP along with gradual depolarization of the resting membrane potential (RMP). At 90% reduction, early afterdepolarizations (EADs) became inducible and RMP was depolarized to -52.0 mV (control: -89.8 mV), followed by emergence of spontaneous APs. Both EADs and spontaneous APs were facilitated by a decrease in [K(+)](o) and suppressed by an increase in [K(+)](o). Simulated beta-adrenergic stimulation enhanced delayed afterdepolarizations (DADs) and could also facilitate EADs as well as spontaneous APs in the setting of low [K(+)](o) and reduced Kir2.1 channel conductance. In conclusion, the spectrum of VAs in ATS may include 1) triggered activity mediated by EADs and/or DADs and 2) abnormal automaticity manifested as spontaneous APs. These VAs can be aggravated by a decrease in [K(+)](o) and beta-adrenergic stimulation and may potentially induce torsade de pointes and cause sudden death. In patients with ATS, the hypokalemic form of periodic paralysis should have the highest propensity to VAs, especially during physical activity.  (+info)

Modeling of IK1 mutations in human left ventricular myocytes and tissue. (5/23)

Elucidation of the cellular basis of arrhythmias in ion channelopathy disorders is complicated by the inherent difficulties in studying human cardiac tissue. Thus we used a computer modeling approach to study the mechanisms of cellular dysfunction induced by mutations in inward rectifier potassium channel (K(ir))2.1 that cause Andersen-Tawil syndrome (ATS). ATS is an autosomal dominant disorder associated with ventricular arrhythmias that uncommonly degenerate into the lethal arrhythmia torsade de pointes. We simulated the cellular and tissue effects of a potent disease-causing mutation D71V K(ir)2.1 with mathematical models of human ventricular myocytes and a bidomain model of transmural conduction. The D71V K(ir)2.1 mutation caused significant action potential duration prolongation in subendocardial, midmyocardial, and subepicardial myocytes but did not significantly increase transmural dispersion of repolarization. Simulations of the D71V mutation at shorter cycle lengths induced stable action potential alternans in midmyocardial, but not subendocardial or subepicardial cells. The action potential alternans was manifested as an abbreviated QRS complex in the transmural ECG, the result of action potential propagation failure in the midmyocardial tissue. In addition, our simulations of D71V mutation recapitulate several key ECG features of ATS, including QT prolongation, T-wave flattening, and QRS widening. Thus our modeling approach faithfully recapitulates several features of ATS and provides a mechanistic explanation for the low frequency of torsade de pointes arrhythmia in ATS.  (+info)

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities. (6/23)

Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.  (+info)

An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway. (7/23)

Loss-of-function mutations in the inward rectifier potassium channel, Kir2.1, cause Andersen-Tawil syndrome (ATS-1), an inherited disorder of periodic paralysis and ventricular arrhythmias. Here, we explore the mechanism by which a specific ATS-1 mutation (V302M) alters channel function. Val-302 is located in the G-loop, a structure that is believed to form a flexible barrier for potassium permeation at the apex of the cytoplasmic pore. Consistent with a role in stabilizing the G-loop in an open conformation, we found the V302M mutation specifically renders the channel unable to conduct potassium without altering subunit assembly or attenuating cell surface expression. As predicted by the position of the Val-302 side chain in the crystal structure, amino acid substitution analysis revealed that channel activity and phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity are profoundly sensitive to alterations in the size, shape, and hydrophobicity of side chains at the Val-302 position. The observations establish that the Val-302 side chain is a critical determinant of potassium conduction through the G-loop. Based on our functional studies and the cytoplasmic domain crystal structure, we suggest that Val-302 may influence PIP2 gating indirectly by translating PIP2 binding to conformational changes in the G-loop pore.  (+info)

Sudden cardiac death in Andersen-Tawil syndrome. (8/23)

Andersen-Tawil syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by periodic paralysis, dysmorphic features, and ventricular arrhythmias. Although ventricular tachycardia burden is quite high sudden cardiac death in ATS is rare. We describe a case with sudden cardiac death due to electrical storm a few days after ICD implantation in KCNJ2 mutation-negative ATS.  (+info)

  • It affects the heart, symptoms are a disruption in the rhythm of the heart's lower chambers (ventricular arrhythmia) in addition to the symptoms of long QT syndrome. (wikipedia.org)
  • Furthermore it causes symptoms which are similar to Long QT syndrome, which Andersen's is also known as. (wikipedia.org)
  • Long QT syndrome, a hereditary disorder that usually affects children or young adults, slows the signal that causes the ventricles to contract. (wikipedia.org)
  • Research by other scientists has found that alcohol binds to the Kir2.1 ion channel, leading to speculation that abnormal ion channel function may cause the distinctive facial features associated with fetal alcohol syndrome, just as it does in ATS. (tufts.edu)
  • Jervell and Lange-Nielsen syndrome is a similar disorder which is also associated with sensorineural hearing loss. (wikipedia.org)
  • The normal QTc, distinct ECG, and other clinical features distinguish ATS1 from long-QT syndrome, and it is best designated as ATS1 rather than LQT7. (nih.gov)
  • It affects the heart, symptoms are a disruption in the rhythm of the heart's lower chambers (ventricular arrhythmia) in addition to the symptoms of long QT syndrome. (wikipedia.org)
  • The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome . (cdc.gov)
  • Contains 24 new chapters (listed below) as well as exhaustive updates throughout, to keep you current with new scientific knowledge, newly discovered arrhythmia syndromes, and new diagnostic and therapeutic techniques. (abebooks.com)
  • This knowledge has helped shape the current diagnosis and treatment of inherited arrhythmia susceptibility syndromes associated with SCD and has provided a pathophysiological framework for understanding more complex conditions predisposing to this tragic event. (jci.org)
  • This Review presents an overview of the molecular basis of SCD, with a focus on monogenic arrhythmia syndromes. (jci.org)
  • Schwartz et al suggested incorporating clinical and electrocardiogram (ECG) findings in a probability-based diagnostic criteria for long QT syndrome. (medscape.com)
  • Common clinical symptoms include muscle atrophy, lower limb skeletal weakness, floppy infant syndrome and skeletal deformities, e.g., hip displacement and scoliosis. (fitness-vip.com)
  • From our latest understanding of ion channels, molecular genetics, and cardiac electrical activity through newly recognized syndromes, unique needs of special patient populations, and new diagnostic and therapeutic options, you'll find all the state-of-the-art guidance you need to make informed, effective clinical decisions. (abebooks.com)
  • Clinical introduction An 88-year-old man, admitted to the emergency room (ER) after three episodes of syncope within 1 day, reported a precursory of syndrome of light-headedness with rapid palpitations that led to an abrupt loss of consciousness. (bmj.com)
  • Long QT syndrome, a rare genetic disorder associated with life-threatening arrhythmias, has provided a wealth of information about fundamental mechanisms underlying human cardiac electrophysiology that has come about because of truly collaborative interactions between clinical and basic scientists. (jci.org)
  • This Review examines the clinical presentation and the genetic basis of several such syndromes. (biomedsearch.com)
  • Because Bálint's syndrome is not common and is difficult to assess with standard clinical tools, the literature is dominated by case reports and confounded by case selection bias, non-uniform application of operational definitions, inadequate study of basic vision, poor lesion localisation, and failure to distinguish between deficits in the acute and chronic phases of recovery. (bmj.com)
  • Mendelian (i.e., monogenic) syndromes predisposing to life-threatening ventricular arrhythmias in young adults and children are genetically heterogeneous, with more than 25 genes identified so far (Table 1 ). (jci.org)
  • However, in the region of the chromosome that is critical for Angelman syndrome, the maternal and paternal contribution express certain genes very differently. (wikipedia.org)
  • Sudden infant death syndrome (SIDS) continues to be the most common cause of postneonatal infant death. (cmaj.ca)
  • Sudden infant death syndrome (SIDS) is defined as the sudden death of an infant under 1 year old that is unexpected by history and unexplained after a thorough postmortem examination, including a complete autopsy, investigation of the scene of death and review of the medical history. (cmaj.ca)
  • To identify the risk factors for sudden infant death syndrome (SIDS) following a national campaign to prevent SIDS. (aappublications.org)
  • Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. (abcam.com)
  • Anesthesia may also trigger arrhythmias, and for this reason surgeons and the anesthesiologists should be aware that the patient has Timothy syndrome and discuss with the electrophysiologist the management of the patient and his/her monitoring during surgery. (rarediseases.org)
  • This decline in multiple systems affects the normal complex adaptive behavior that is essential to health and eventually results in frailty typically manifesting as a syndrome of a constellation of weakness, slowness, reduced activity, low energy and unintended weight loss. (wikipedia.org)
  • Less common forms include paramyotonia congenita von Eulenburg, thyrotoxic, distal renal tubular acidosis, X-linked episodic muscle weakness syndrome, and congenital myasthenic syndromes. (winchesterhospital.org)
  • Dear Dr. Andersen, I have a strong family history of coronary artery disease even though no one in my family has diabetes or obesity. (womensvoicesforchange.org)
  • Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. (abcam.com)
  • Research has also indicated that immunosuppressive drugs are readily able to delay or prevent the development of disease in BB rats or NOD mice (Andersen 1980). (davidson.edu)
  • The MS can be present in different forms, according to the combination of the different components of the syndrome, and it is well established that it increases the risk for the development of cardiovascular disease, type II diabetes, and cancer [ 5 - 7 ]. (hindawi.com)
  • Andersen CJ, Fernandez ML. Dietary strategies to reduce metabolic syndrome. (springer.com)
  • Nascimento AR, Machado M, De Jesus N, Gomes F, Lessa MA, Bonomo IT, Tibiriçá E (2013) Structural and functional microvascular alterations in a rat model of metabolic syndrome induced by a high-fat diet. (springer.com)
  • The metabolic syndrome is a clustering of obesity, diabetes, hyperlipidemia, and hypertension that is occurring in increasing frequency across the global population. (hindawi.com)
  • We briefly review the role of oxidative stress as a major component of the metabolic syndrome and then discuss the impact of exercise on these pathophysiological pathways. (hindawi.com)
  • The metabolic syndrome (MS) describes a constellation of hypertension, diabetes, and dyslipidemia that is caused by abdominal obesity [ 1 , 2 ] and has also been variously termed X syndrome, insulin resistance syndrome, and the deadly quartet [ 3 ]. (hindawi.com)
  • Comparison of definitions of the metabolic syndrome. (hindawi.com)
  • Children with Timothy syndrome may also have developmental delays, including autism spectrum disorders that can involve difficulty communicating, socializing, or making correct movements. (rarediseases.org)
  • Even the classic syndrome probably represents a spectrum of disorders, ranging from exaggerated fluid-phased thrombosis dependent on prothrombotic agents such as tissue factor to a platelet- and endotheliumum-based selectin-dependent microangiopathy associated with mucin-producing carcinomas, along with thrombin and fibrin production. (bloodjournal.org)
  • The goal of this review is to explore a range of psychological and anatomical explanations for this striking visual disorder and to propose new directions for interpreting the findings in Bálint's syndrome and related cerebral disorders of visual processing. (bmj.com)
  • In 1979 four children were described with a syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction with onset in infancy (Pearson et al. (fitness-vip.com)
  • We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. (biomedsearch.com)
  • Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. (wikipedia.org)
  • Journal Article] Lack of genotype-phenotype correlation in Brugada syndrome and sudden arrhythmic death syndrome families with reported pathogenic SCN1B variants. (nii.ac.jp)
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Faulty bioelectric signal responsible for facial defects caused by rare genetic disorder | Tufts Now (now.tufts.edu)
014 Prevalence study of skeletal muscle channelopathies in England | Journal of Neurology, Neurosurgery & Psychiatry
014 Prevalence study of skeletal muscle channelopathies in England | Journal of Neurology, Neurosurgery & Psychiatry (jnnp.bmj.com)
Erotikk novelle caroline andersen video | 夢空館
Erotikk novelle caroline andersen video | 夢空館 (garden110.com)
KCNJ2 gene: MedlinePlus Genetics
KCNJ2 gene: MedlinePlus Genetics (medlineplus.gov)
New stem cell model valuable tool for studying Andersen's syndrome | EurekAlert! Science News
New stem cell model valuable tool for studying Andersen's syndrome | EurekAlert! Science News (eurekalert.org)
Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome - Full Text View - ClinicalTrials.gov
Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome - Full Text View - ClinicalTrials.gov (clinicaltrials.gov)
Familial Periodic Paralysis - Pediatrics - Merck Manuals Professional Edition
Familial Periodic Paralysis - Pediatrics - Merck Manuals Professional Edition (merckmanuals.com)
Rareshare
Rareshare (rareshare.org)
Pediatric Long QT Syndrome: Background, Etiology and Pathophysiology, Prognosis
Pediatric Long QT Syndrome: Background, Etiology and Pathophysiology, Prognosis (emedicine.medscape.com)
Joel Kramer, PsyD | Memory and Aging Center
Joel Kramer, PsyD | Memory and Aging Center (memory.ucsf.edu)
Journal of Neuromuscular Diseases - Volume 4, issue 1 - Journals - IOS Press
Journal of Neuromuscular Diseases - Volume 4, issue 1 - Journals - IOS Press (content.iospress.com)
Andersen-Tawil Syndrome - NORD (National Organization for Rare Disorders)
Andersen-Tawil Syndrome - NORD (National Organization for Rare Disorders) (rarediseases.org)
Muscle Diseases
Muscle Diseases (fitness-vip.com)
Rare Diseases List and Definitions | Disabled World
Rare Diseases List and Definitions | Disabled World (disabled-world.com)
9781416059738: Cardiac Electrophysiology: From Cell to Bedside: Expert Consult - Online and Print - AbeBooks - Douglas P. Zipes...
9781416059738: Cardiac Electrophysiology: From Cell to Bedside: Expert Consult - Online and Print - AbeBooks - Douglas P. Zipes... (abebooks.com)
KCNJ12 Gene - GeneCards | KCJ12 Protein | KCJ12 Antibody
KCNJ12 Gene - GeneCards | KCJ12 Protein | KCJ12 Antibody (genecards.org)
Frailty syndrome - Wikipedia
Frailty syndrome - Wikipedia (en.wikipedia.org)
Clinical utility gene card for: Long-QT Syndrome (types 1-13) | European Journal of Human Genetics
Clinical utility gene card for: Long-QT Syndrome (types 1-13) | European Journal of Human Genetics (nature.com)
The update of anthocyanins on obesity and type 2 diabetes: Experimental evidence and clinical perspectives | SpringerLink
The update of anthocyanins on obesity and type 2 diabetes: Experimental evidence and clinical perspectives | SpringerLink (link.springer.com)
Type IV Glycogen Storage Disease: Practice Essentials, Pathophysiology, Epidemiology
Type IV Glycogen Storage Disease: Practice Essentials, Pathophysiology, Epidemiology (emedicine.medscape.com)
Arrhythmia | Irregular Heartbeat | MedlinePlus
Arrhythmia | Irregular Heartbeat | MedlinePlus (medlineplus.gov)
Tall Poppy Syndrome (album) - Wikipedia
Tall Poppy Syndrome (album) - Wikipedia (en.wikipedia.org)
Inward-rectifier potassium channel - Wikipedia
Inward-rectifier potassium channel - Wikipedia (en.wikipedia.org)
Craig T. January, MD, PhD, FACC
Craig T. January, MD, PhD, FACC (uwhealth.org)
Multiplatform metabolomic fingerprinting as a tool for understanding hypercholesterolemia in Wistar rats | SpringerLink
Multiplatform metabolomic fingerprinting as a tool for understanding hypercholesterolemia in Wistar rats | SpringerLink (link.springer.com)
AMA Prepares Gag Order for Medical Dissenters | The Alliance for Natural Health
AMA Prepares Gag Order for Medical Dissenters | The Alliance for Natural Health (anh-usa.org)
Holly S. Andersen, M.D. | Women's Voices For Change
Holly S. Andersen, M.D. | Women's Voices For Change (womensvoicesforchange.org)
Kutane Arzneimittelreaktionen | SpringerLink
Kutane Arzneimittelreaktionen | SpringerLink (link.springer.com)
Potassium Channels Regulating the Electrical Activity of the Heart | Springer for Research & Development
Potassium Channels Regulating the Electrical Activity of the Heart | Springer for Research & Development (rd.springer.com)
Recombinant Human Kir2.1 protein (ab114391) | Abcam
Recombinant Human Kir2.1 protein (ab114391) | Abcam (abcam.com)
Pax2 Literature [Xenopus] - Xenbase Gene Catalog
Pax2 Literature [Xenopus] - Xenbase Gene Catalog (xenbase.org)
Plus it
Plus it (jneurosci.org)
ModelDB: Simulation study of Andersen-Tawil syndrome (Sung et al 2006)
ModelDB: Simulation study of Andersen-Tawil syndrome (Sung et al 2006) (senselab.med.yale.edu)
ChiroACCESS: Shoulder Impingement Syndrome: Therapy
ChiroACCESS: Shoulder Impingement Syndrome: Therapy (chiroaccess.com)