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.
The presence of bacteria, viruses, and fungi in the air. This term is not restricted to pathogenic organisms.
A characteristic symptom complex.
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 where the flow of K+ ions into the cell is greater than the outward flow.
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)
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.
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).
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)
A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.

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)

Andersen Syndrome is a rare genetic disorder characterized by the presence of three major features:

1. Periodic episodes of muscle weakness (periodic paralysis)
2. Potassium-sensitive ventricular arrhythmias
3. Physical deformities of the face and skeleton

The periodic paralysis in Andersen Syndrome is typically less severe than other forms of periodic paralysis, and it can be triggered by factors such as cold, emotional stress, or infection. The potassium-sensitive ventricular arrhythmias can be life-threatening and may require treatment with medications or an implantable cardioverter-defibrillator (ICD).

The physical deformities associated with Andersen Syndrome can include a short stature, low-set ears, a broad nose, widely spaced eyes, a cleft palate, and skeletal abnormalities such as scoliosis or clubfoot. These features may vary in severity among individuals with the disorder.

Andersen Syndrome is caused by mutations in the gene for the protein called the inward rectifier potassium channel (Kir2.1), which is involved in regulating the flow of potassium ions across cell membranes. This gene is located on chromosome 17 and is designated KCNJ2. The disorder is inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, some cases of Andersen Syndrome are due to new (de novo) mutations and occur in people with no family history of the disorder.

Air microbiology is the study of microorganisms, such as bacteria, fungi, and viruses, that are present in the air. These microorganisms can be suspended in the air as particles or carried within droplets of liquid, such as those produced when a person coughs or sneezes.

Air microbiology is an important field of study because it helps us understand how these microorganisms are transmitted and how they may affect human health. For example, certain airborne bacteria and fungi can cause respiratory infections, while airborne viruses can cause diseases such as the common cold and influenza.

Air microbiology involves various techniques for collecting and analyzing air samples, including culturing microorganisms on growth media, using molecular biology methods to identify specific types of microorganisms, and measuring the concentration of microorganisms in the air. This information can be used to develop strategies for controlling the spread of airborne pathogens and protecting public health.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Aerosols are defined in the medical field as suspensions of fine solid or liquid particles in a gas. In the context of public health and medicine, aerosols often refer to particles that can remain suspended in air for long periods of time and can be inhaled. They can contain various substances, such as viruses, bacteria, fungi, or chemicals, and can play a role in the transmission of respiratory infections or other health effects.

For example, when an infected person coughs or sneezes, they may produce respiratory droplets that can contain viruses like influenza or SARS-CoV-2 (the virus that causes COVID-19). Some of these droplets can evaporate quickly and leave behind smaller particles called aerosols, which can remain suspended in the air for hours and potentially be inhaled by others. This is one way that respiratory viruses can spread between people in close proximity to each other.

Aerosols can also be generated through medical procedures such as bronchoscopy, suctioning, or nebulizer treatments, which can produce aerosols containing bacteria, viruses, or other particles that may pose an infection risk to healthcare workers or other patients. Therefore, appropriate personal protective equipment (PPE) and airborne precautions are often necessary to reduce the risk of transmission in these settings.

Inwardly rectifying potassium channels (Kir) are a type of potassium channel that allow for the selective passage of potassium ions (K+) across cell membranes. The term "inwardly rectifying" refers to their unique property of allowing potassium ions to flow more easily into the cell (inward current) than out of the cell (outward current). This characteristic is due to the voltage-dependent blockage of these channels by intracellular magnesium and polyamines at depolarized potentials.

These channels play crucial roles in various physiological processes, including:

1. Resting membrane potential maintenance: Kir channels help establish and maintain the negative resting membrane potential in cells by facilitating potassium efflux when the membrane potential is near the potassium equilibrium potential (Ek).
2. Action potential repolarization: In excitable cells like neurons and muscle fibers, Kir channels contribute to the rapid repolarization phase of action potentials, allowing for proper electrical signaling.
3. Cell volume regulation: Kir channels are involved in regulating cell volume by mediating potassium influx during osmotic stress or changes in intracellular ion concentrations.
4. Insulin secretion: In pancreatic β-cells, Kir channels control the membrane potential and calcium signaling necessary for insulin release.
5. Renal function: Kir channels are essential for maintaining electrolyte balance and controlling renal tubular transport in the kidneys.

There are several subfamilies of inwardly rectifying potassium channels (Kir1-7), each with distinct biophysical properties, tissue distributions, and functions. Mutations in genes encoding these channels can lead to various human diseases, including cardiac arrhythmias, epilepsy, and Bartter syndrome.

Hypokalemic Periodic Paralysis (HPP) is a group of rare inherited disorders characterized by episodes of muscle weakness or paralysis, often associated with low potassium levels in the blood (hypokalemia). During an attack, muscles may become weak or fully paralyzed, typically affecting the legs and arms. The episodes can last from several hours to days. HPP is caused by genetic mutations that affect ion channels in muscle cells, leading to an imbalance of electrolytes and impaired muscle function. There are two main types: primary (or classic) HPP and secondary HPP. Primary HPP is further divided into thyrotoxic HPP and normokalemic HPP. Secondary HPP can be caused by various factors, such as medications or underlying medical conditions that cause hypokalemia.

Long QT syndrome (LQTS) is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), which can potentially trigger rapid, chaotic heartbeats known as ventricular tachyarrhythmias, such as torsades de pointes. These arrhythmias can be life-threatening and lead to syncope (fainting) or sudden cardiac death. LQTS is often congenital but may also be acquired due to certain medications, medical conditions, or electrolyte imbalances. It's essential to identify and manage LQTS promptly to reduce the risk of severe complications.

Jervell-Lange Nielsen Syndrome (JLNS) is a rare inherited disorder characterized by the combination of congenital deafness and prolongation of the QT interval on an electrocardiogram (ECG), which can lead to life-threatening cardiac arrhythmias. It is caused by mutations in the KCNQ1 or KCNE1 genes, which are responsible for the potassium ion channels in the heart that help maintain a regular heart rhythm.

There are two types of JLNS: type 1 and type 2. Type 1 is characterized by profound congenital deafness and severe, life-threatening cardiac arrhythmias, while type 2 has less severe hearing loss and fewer cardiac complications. The syndrome can be diagnosed through genetic testing and ECG monitoring. Treatment typically involves the use of beta blockers to regulate heart rhythm, as well as the implementation of measures to manage the risk of sudden death, such as the implantation of a pacemaker or defibrillator.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Channelopathies are genetic disorders that are caused by mutations in the genes that encode for ion channels. Ion channels are specialized proteins that regulate the flow of ions, such as sodium, potassium, and calcium, across cell membranes. These ion channels play a crucial role in various physiological processes, including the generation and transmission of electrical signals in the body.

Channelopathies can affect various organs and systems in the body, depending on the type of ion channel that is affected. For example, mutations in sodium channel genes can cause neuromuscular disorders such as epilepsy, migraine, and periodic paralysis. Mutations in potassium channel genes can cause cardiac arrhythmias, while mutations in calcium channel genes can cause neurological disorders such as episodic ataxia and hemiplegic migraine.

The symptoms of channelopathies can vary widely depending on the specific disorder and the severity of the mutation. Treatment typically involves managing the symptoms and may include medications, lifestyle modifications, or in some cases, surgery.

... , also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several ... leading to the periodic paralysis and abnormal heart rhythms characteristic of Andersen-Tawil syndrome. Andersen-Tawil syndrome ... As a genetic condition, Andersen-Tawil syndrome cannot be cured. However, many of symptoms of Andersen-Tawil such as blackouts ... "Andersen's syndrome (Ellen Damgaard Andersen)". www.whonamedit.com. Retrieved 2019-09-16. This article incorporates public ...
LQT7, also known as Andersen-Tawil syndrome, is characterised by a triad of features - in addition to a prolonged QT interval, ... Other rare forms include Andersen-Tawil syndrome (LQT7) with features including a prolonged QT interval, periodic paralysis, ... Nguyen HL, Pieper GH, Wilders R (December 2013). "Andersen-Tawil syndrome: clinical and molecular aspects". International ... The following is a list of genes associated with Long QT syndrome: Although long QT syndrome is often a genetic condition, a ...
Accelerated idioventricular rhythm Andersen-Tawil syndrome (Andersen cardiodysrhythmic periodic paralysis, Andersen syndrome, ... Lenegre-Lev syndrome) Long QT syndrome Lown-Ganong-Levine syndrome Multifocal atrial tachycardia Wolff-Parkinson-White syndrome ... "Andersen-Tawil syndrome". Genetics Home Reference. U.S. National Library of Medicine. 2009-12-21. Retrieved 24 December 2009. ... "Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome ...
... is a physician and researcher who described Andersen Syndrome. This autosomal, dominant trait and the ... A new syndrome?". Acta Paediatrica Scandinavica. 60 (5): 559-64. doi:10.1111/j.1651-2227.1971.tb06990.x. PMID 4106724. v t e ( ... Pietersen, Adrian H.; Andersen, Ellen Damgaard; Sandøe, Erik (1992-08-20). "Atrial fibrillation in the Wolff-Parkinson-White ... Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental ...
Tristani-Firouzi M, Etheridge SP (2013). "Chapter 32 - Andersen-Tawil and Timothy Syndromes". In Gussak I, Antzelevitch C (eds ... Unlike conditions such as long QT syndrome and Brugada syndrome, the resting 12-lead ECG in those with CPVT is generally normal ... but if seen is suggestive of an underlying diagnosis of CPVT or the related condition Andersen-Tawil syndrome. These ... "How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic ...
"Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype". American Journal of Medical Genetics Part ... along with syndactyly and similar craniofacial defects to Andersen-Tawil syndrome including cleft or high-arched palate, ... "Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome". Cell. 105 (4): 511-9. ... mutations that disrupt an inwardly rectifying potassium channel Kir2.1 cause dominantly inherited Andersen-Tawil Syndrome (ATS ...
GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome OMIM entries on Anderson-Tawil syndrome KCNJ2+protein,+human at the U. ... A defect in this gene is associated with Andersen-Tawil syndrome. A mutation in the KCNJ2 gene has also been shown to cause ... Donaldson MR, Yoon G, Fu YH, Ptacek LJ (2004). "Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and ... 2002). "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proc. Natl. Acad. ...
Andersen's syndrome is a rare condition caused by multiple mutations of Kir2.1. Depending on the mutation, it can be dominant ... Bartter's syndrome can be caused by mutations in Kir channels. This condition is characterized by the inability of kidneys to ... EAST/SeSAME syndrome is caused by mutations in KCNJ10. G protein-coupled inwardly-rectifying potassium channel Transporter ... Peng J, Xie L, Stevenson FF, Melov S, Di Monte DA, Andersen JK (November 2006). "Nigrostriatal dopaminergic neurodegeneration ...
... implication for Andersen's syndrome". Proceedings of the National Academy of Sciences of the United States of America. 99 (12 ... "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proceedings of the National ... The gene is located within the Smith-Magenis syndrome region on chromosome 17. KCNJ12 has been shown to interact with: APBA1, ...
"Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proc. Natl. Acad. Sci. U.S. ...
Andersen-Tawil syndrome (Online Mendelian Inheritance in Man (OMIM): 170390), a form of periodic paralysis that includes ... Treatment of periodic paralysis in Andersen-Tawil syndrome is similar to that for other types. However, pacemaker insertion or ... "Novel de novo Mutation in the KCNJ2 gene in a Patient with Andersen-Tawil Syndrome". Pediatric Neurology. 41 (6): 464-466. doi: ... If a patient has hypo or hyper periodic paralysis they have a 50% chance of getting Andersen-Tawil. They just have to have the ...
"Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome ... His current research mainly focuses on identifying the genes involved with Andersen-Tawil syndrome (ATS). Ptáček's lab have ... He had a large role in discovering that hyperkalemic periodic paralysis, paramyotonia congenita, Andersen-Tawil syndrome, and ... Nguyen, Hoai-Linh; Pieper, Gerard H.; Wilders, Ronald (2013-12-05). "Andersen-Tawil syndrome: clinical and molecular aspects". ...
Mutations in KCNJ2 lead to hypokalemic periodic paralysis with cardiac arrhythmias called Andersen-Tawil syndrome.[citation ...
... implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430-5. Bibcode:2002PNAS...99.8430C. doi:10.1073/ ... Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). Potassium channels are present in ... "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal ... "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21". Genome Res. 7 (1): 47-58. doi:10.1101/gr. ...
This mutation's link to Andersen's syndrome is its corresponding location to one of the prominent genetic causes for the ... Implication for Andersen's syndrome". Proceedings of the National Academy of Sciences. 99 (12): 8430-8435. Bibcode:2002PNAS... ... that may play a role in the development of Andersen's disease. Kaziro and his team identified a mutation of a glutamate residue ... syndrome. Awards 1972 - 9th Matsunaga Prize 1980 - Takeda Medical Prize 1995 - Medal with Purple Ribbon 1999 - Japan Gakushiin ...
... such as Andersen-Tawil syndrome, Laing distal myopathy, and Walker-Warburg syndrome. MDA supported the Newborn Screening Saves ...
Implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430-5. Bibcode:2002PNAS...99.8430C. doi:10.1073/ ...
Long QT syndrome Jervell and Lange-Nielsen syndrome Andersen-Tawil syndrome Timothy syndrome Tester DJ, Schwartz PJ, Ackerman ... Andersen-Tawil syndrome), and autism spectrum disorder (LQT8, Timothy syndrome), these extra-cardiac manifestations are not ... Romano-Ward syndrome is a descriptive term for a group of subtypes of long QT syndrome, specifically subtypes LQT1-6 and LQT9- ... Romano-Ward syndrome is the most common form of congenital Long QT syndrome (LQTS), a genetic heart condition that affects the ...
Hansen DL; Möller S; Andersen K; Gaist D; Frederiksen H (2019). "Evans syndrome in adults - incidence, prevalence, and survival ... primary Evans syndrome: 10.9 years; secondary Evans syndrome: 1.7 years). Secondary Evans syndrome was associated with higher ... The syndrome was first described in 1951 by R. S. Evans and colleagues. The symptoms of Evans syndrome vary between patients ... Hematology "Evans Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-03-15. "Evans syndrome". Genetic ...
Moskowitz, A; Andersen, LW; Huang, DT; Berg, KM; Grossestreuer, AV; Marik, PE; Sherwin, RL; Hou, PC; Becker, LB; Cocchi, MN; ... "infant respiratory distress syndrome" in newborns, the international consensus is that "acute respiratory distress syndrome" is ... The syndrome is associated with a death rate between 35 and 50%. Globally, ARDS affects more than 3 million people a year. The ... Acute respiratory distress syndrome (ARDS) is a type of respiratory failure characterized by rapid onset of widespread ...
Keiding, N; Andersen, PK; Klein, JP (January 1997). "The role of frailty models and accelerated failure time models in ... Mare reproductive loss syndrome (MRLS) is a syndrome consisting of equine abortions and three related nonreproductive syndromes ... the syndrome was named the mare reproductive loss syndrome (MRLS). MRLS was defined as including four syndromes: (1) EFLs, (2) ... MRLS was initially characterized by four syndromes: (1) EFLs, (2) LFLs and the nonreproductive syndromes, (3) unilateral ...
Granfeldt, Asger; Holmberg, Mathias J.; Nolan, Jerry P.; Soar, Jasmeet; Andersen, Lars W.; International Liaison Committee on ... Post-cardiac arrest syndrome (PCAS) is an inflammatory state of pathophysiology that can occur after a patient is resuscitated ... This pulmonary-specific damage, together with the systemic inflammation, causes acute respiratory distress syndrome in about 50 ... Wada, Takeshi (2017). "Coagulofibrinolytic Changes in Patients with Post-cardiac Arrest Syndrome". Frontiers in Medicine. 4: ...
Henrik Steen Andersen, Dorte Sestof (2001). "Ganser syndrome after solitary confinement in prison: A short review and a case ... The syndrome has also been called nonsense syndrome, balderdash syndrome, syndrome of approximate answers, hysterical ... As a result, there are differing theories as to why the syndrome develops. Ganser syndrome was previously classified as a ... Kraepelin and Bumke also believed the syndrome to be of a hysterical nature. Bumke thought the syndrome hysterical because ...
Kwon, TH; Hager, H; Nejsum, LN; Andersen, ML; Frøkiaer, J; Nielsen, S (May 2001). "Physiology and pathophysiology of renal ... Because not all people with this syndrome have elevated levels of vasopressin, the term "syndrome of inappropriate antidiuresis ... Schwartz-Bartter syndrome at Who Named It? Feldman, BJ; Rosenthal, SM; Vargas, GA; Fenwick, RG; Huang, EA; Matsuda-Abedini, M; ... Cerebral salt wasting syndrome (CSWS) also presents with hyponatremia, there are signs of dehydration for which reason the ...
Andersen WH, Rasmussen RK, Strømme P (2001). "Levels of cognitive and linguistic development in Angelman syndrome: a study of ... palsy Rett syndrome Mowat-Wilson syndrome Adenylosuccinate lyase deficiency Pitt-Hopkins syndrome Phelan-McDermid syndrome ... Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a ... Angelman syndrome is not a degenerative syndrome, and thus people with AS may improve their living skills with support.[ ...
Diagnostic classification and rating scales used in psychiatry Autism Asperger syndrome Eriksson, Jonna M; Andersen, Lisa MJ; ... Eriksson, Jonna M.; Andersen, Lisa M. J.; Bejerot, Susanne (2013). "RAADS-14 Screen: validity of a screening tool for autism ...
... pain syndromes Andermann syndrome Andersen-Tawil syndrome Androgen insensitivity syndrome Angelman syndrome ANOTHER syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
... endocrinologist who discovered Albright's hereditary osteodystrophy and McCune-Albright syndrome Dorothy Hansine Andersen, ... pediatrician who first described Crigler-Najjar syndrome William Nyhan, pediatrician who first described Lesch-Nyhan syndrome ... who identified Cushing's syndrome and the Cushing ulcer Walter Dandy, neurosurgeon and the namesake of the Dandy-Walker ... described Li-Fraumeni syndrome Irwin Freedberg, former director of the school's dermatology department Ernest William ...
For example, Down syndrome, Wolf-Hirschhorn syndrome, and Andersen-Tawil syndrome are disorders with known pathogeneses, so ... hostility syndrome, manic syndrome, apathy syndrome. Münchausen syndrome, Ganser syndrome, neuroleptic-induced deficit syndrome ... oneiroid syndrome), hysteric syndrome, neurotic syndrome, Korsakoff's syndrome, hypochondriacal syndrome, paranoiac syndrome, ... asthenic syndrome, obsessive syndrome, emotional syndromes (for example, manic syndrome, depressive syndrome), Cotard's ...
Dorothy Hansine Andersen Andersen-Tawil syndrome (a.k.a. Andersen syndrome) - Ellen Andersen, Al-Rabi Tawil Anderson-Fabry ... Hakaru Hashimoto Havisham syndrome (a.k.a. Diogenes syndrome, Miss Havisham syndrome, and Plyushkin syndrome) - Miss Havisham, ... Havisham syndrome, Miss Havisham syndrome, Plyushkin syndrome)- Diogenes of Sinope (the particular usage, Diogenes syndrome, is ... syndrome - Moritz Simmonds Sipple's syndrome - John H. Sipple Sjögren syndrome - Henrik Sjögren Sjögren-Larsson syndrome - ...
Andersen-Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several ... leading to the periodic paralysis and abnormal heart rhythms characteristic of Andersen-Tawil syndrome. Andersen-Tawil syndrome ... As a genetic condition, Andersen-Tawil syndrome cannot be cured. However, many of symptoms of Andersen-Tawil such as blackouts ... "Andersens syndrome (Ellen Damgaard Andersen)". www.whonamedit.com. Retrieved 2019-09-16. This article incorporates public ...
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm ( ... medlineplus.gov/genetics/condition/andersen-tawil-syndrome/ Andersen-Tawil syndrome. ... Andersen-Tawil syndrome is a rare genetic disorder. Its exact prevalence is unknown, although it is estimated to affect 1 in 1 ... Mutations in the KCNJ2 gene cause about 60 percent of all cases of Andersen-Tawil syndrome. When the disorder is caused by ...
... familial long QT syndrome). Indeed, sudden cardiac death in the pediatric population can be the first presentation of an ... Jervell and Lang-Nielsen (JLN) syndrome is an autosomal recessive form of congenital long QT syndrome. Romano-Ward syndrome ( ... JLN syndrome. A study by Goldberg et al found that patients with JLN syndrome experienced a high rate of cardiac and fatal ... Pediatric Long QT Syndrome. Marked prolongation of QT interval in a 15-year-old male with long QT syndrome. Abnormal morphology ...
Di SantAgnese, P.E.A.; Andersen, D.H. Celiac syndrome; chemotherapy in infections of the respiratory tract associated with ... McCoy, K.S. Compounded colistimethate as possible cause of fatal acute respiratory distress syndrome. N. Engl. J. Med. 2007, ... Colistimethate therapy was also associated with the development of a fatal case of acute respiratory distress syndrome in a 29- ...
Andersen-Tawil syndrome is a rare, autosomal dominant Autosomal Dominant Genetic disorders determined by a single gene ( ... Andersen-Tawil syndrome In addition to lifestyle changes, including tightly controlled levels of exercise or activity, episodes ... There are 4 forms: hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome. Diagnosis is indicated by history and ... The major complication of Andersen-Tawil syndrome is sudden death resulting from cardiac arrhythmias, and a cardiac pacemaker ...
PubMed:Andersens syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1.. ...
Pathogenic variants account for the majority of Andersen-Tawil syndrome (ATS) cases. ATS is characterised by periodic paralysis ... Individuals typically have severe cardiac arrhythmias which may be diagnosed as CPVT, Long QT Syndrome, or idiopathic ...
Ostergaard J, Goldschmidt E, Andersen N. Vogt-Koyanagi-Harada syndrome in a Greenlandic Inuit. Acta Ophthalmol. 2008 Aug. 86(5 ... 23, 24] Guillain-Barré syndrome, [25] and immunoglobulin A (IgA) nephropathy. [26] This syndrome also has been reported to be ... Vogt-Koyanagi-Harada syndrome in children: report of a case and review of the literature. Ocul Immunol Inflamm. 2007 Jul-Aug. ... Vogt-Koyanagi-Harada syndrome in children. Ocul Immunol Inflamm. 1998 Sep. 6 (3):155-61. [QxMD MEDLINE Link]. ...
Von Essen SG, Andersen CI, Smith LM. Organic dust toxic syndrome: A noninfectious febrile illness after exposure to the hog ... It was determined the outbreak may have been pulmonary mycotoxicosis, or Organic Dust Toxic Syndrome (ODTS), which is an acute ... 1994). Request for Assistance in Preventing Organic Dust Toxic Syndrome.. Centers for Disease Control and Prevention. (1986). ...
Andersen-Tawil syndrome is a rare, autosomal dominant Autosomal Dominant Genetic disorders determined by a single gene ( ... Andersen-Tawil syndrome In addition to lifestyle changes, including tightly controlled levels of exercise or activity, episodes ... There are 4 forms: hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome. Diagnosis is indicated by history and ... The major complication of Andersen-Tawil syndrome is sudden death resulting from cardiac arrhythmias, and a cardiac pacemaker ...
In 2001, University of Utah researchers showed that Andersens syndrome, a rare genetic disease involving cardiac arrhythmias, ...
Andersen-Tawil syndrome: phenotypical variability and atypical presentations in a French cohort Andersen-Tawil syndrome (ATS) ... This syndrome combines to varying degrees the clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphic syndrome ... Involvement of DNA from mitochondria proven in a family with scapulo-peroneal syndrome ...
The syndrome almost always presents either after hCG administration in susceptible patients or during early pregnancy. Despite ... Ovarian hyperstimulation syndrome (OHSS) is a serious complication of controlled ovarian hyperstimulation (COH). ... Humaidan P, Bredkjaer HE, Westergaard LG, Andersen CY: 1,500 IU human chorionic gonadotropin administered at oocyte retrieval ... Ovarian hyperstimulation syndrome (OHSS) is a serious complication of controlled ovarian hyperstimulation (COH). The syndrome ...
Allen CG, Andersen B, Khoury MJ, Roberts MC. Current Social Media Conversations about Genetics and Genomics in Health: A ... A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome. J Cancer Educ. 2018 Dec 3. ... Allen CG, Roberts M, Andersen B, Khoury MJ. Communication About Hereditary Cancers on Social Media: A Content Analysis of ... Allen CG, Roberts M, Andersen B, Khoury MJ. Communication About Hereditary Cancers on Social Media: ...
Andersen Tawil syndrome; Atrial fibrillation, familial, 9; ... Testing genes (6): ATP1A2 (1q23.2); CACNA1S (1q32.1); KCNJ2 ( ... Alternating hemiplegia of childhood 1; Andersen Tawil syndrome; Atrial fibrillation, familial, 9; ... ...
Andermann syndrome. Agenesis of corpus callosum with polyneuropathy.. *Andersen-Tawil syndrome. ATS. Long QT syndrome 7. LQT7. ... Chromosome XXXXX syndrome. 49,XXXXX syndrome. Pentasomy X syndrome.. *Chromosome XYY syndrome. 47,XYY syndrome. Jacob syndrome. ... Trisomy 18 Syndrome. Edward\s Syndrome.. *Chromosome 18p deletion syndrome / De Grouchy syndrome 1/ 18p minus syndrome/ ... Chromosome 4 ring syndrome. *Chromosome 4p deletion syndrome. 4p minus syndrome. Wolf syndrome. Wolf-Hirschhorn syndrome (WHS) ...
... familial long QT syndrome). Indeed, sudden cardiac death in the pediatric population can be the first presentation of an ... Jervell and Lang-Nielsen (JLN) syndrome is an autosomal recessive form of congenital long QT syndrome. Romano-Ward syndrome ( ... JLN syndrome. A study by Goldberg et al found that patients with JLN syndrome experienced a high rate of cardiac and fatal ... Acquired long QT syndrome. The acquired causes of long QT syndrome include drugs, electrolyte imbalance, marked bradycardia, ...
Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family. Jagodzi? ... Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Yoon G, et al. American journal of medical ... Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ...
Andersen Syndrome C16.131.240.400.715.70. C23.550.73.547.70. Anethole Trithione D2.886.753.77. Angina Pectoris C14.280.647.250. ... Shy-Drager Syndrome C14.907.514.482.853 C14.907.514.741. Sick Sinus Syndrome C14.280.67.829 C14.280.67.93.249. C14.280.67.558. ... Sturge-Weber Syndrome C4.700.852. C16.320.700.852. Subclavian Steal Syndrome C14.907.253.92.956.700. Substantia Innominata ... Williams Syndrome C14.280.484.150.60.960 C14.280.484.150.535.960. Wolff-Parkinson-White Syndrome C16.131.240.400.980. Wolffian ...
Andersen Syndrome C16.131.240.400.715.70. C23.550.73.547.70. Anethole Trithione D2.886.753.77. Angina Pectoris C14.280.647.250. ... Shy-Drager Syndrome C14.907.514.482.853 C14.907.514.741. Sick Sinus Syndrome C14.280.67.829 C14.280.67.93.249. C14.280.67.558. ... Sturge-Weber Syndrome C4.700.852. C16.320.700.852. Subclavian Steal Syndrome C14.907.253.92.956.700. Substantia Innominata ... Williams Syndrome C14.280.484.150.60.960 C14.280.484.150.535.960. Wolff-Parkinson-White Syndrome C16.131.240.400.980. Wolffian ...
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. International Turner syndrome consensus group. ... Keywords: autoimmune thyroid disease, Hashimoto, genetic syndromes, Turner syndrome, Down syndrome, Klinefelter syndrome ... Down syndrome), Klinefelter syndrome, Turner syndrome, or 22q11.2 deletion syndrome. Nevertheless, although thyroid dysfunction ... Turner syndrome study group. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J ...
... and chronic fatigue syndrome (CFS) are serious, debilitating conditions that affect millio... ... Andersen, M. M., H. Permin, and F. Albrecht. 2004. Illness and disability in Danish chronic fatigue syndrome patients at ... Chronic fatigue syndrome and abnormal biological rhythms in school children. Journal of Chronic Fatigue Syndrome 8(2):29-37. ... Primary juvenile fibromyalgia syndrome and chronic fatigue syndrome in adolescents. Clinical Infectious Diseases 18(Suppl. 1): ...
Endovascular treatment of vena cava superior syndrome. Duvnjak, S. & Andersen, P. E., 1. Jan 2014, Endovascular interventions: ...
Structural characterization of a Kir potassium channel and its involvement in Andersens syndrome. KIRPAS. coordinator. 196.708 ...
Ostergaard J, Goldschmidt E, Andersen N. Vogt-Koyanagi-Harada syndrome in a Greenlandic Inuit. Acta Ophthalmol. 2008 Aug. 86(5 ... 21, 22] Guillain-Barré syndrome, [23] and immunoglobulin A (IgA) nephropathy. [24] This syndrome has also been reported to be ... Vogt-Koyanagi-Harada syndrome in children: report of a case and review of the literature. Ocul Immunol Inflamm. 2007 Jul-Aug. ... Matsuo T, Masuda I, Ota K, Yamadori I, Sunami R, Nose S. Vogt-Koyanagi-Harada syndrome in two patients with immunoglobulin A ...
Rasmussen, Maria ; Sowter, Peter ; Gallon, Richard ; Durhuus, Jon Ambæk ; Hayes, Christine ; Andersen, Ove ; Nilbert, Mef LU ; ... Rasmussen, Maria ; Sowter, Peter ; Gallon, Richard ; Durhuus, Jon Ambæk ; Hayes, Christine ; Andersen, Ove ; Nilbert, Mef LU ; ... Rasmussen, Maria ; Sowter, Peter ; Gallon, Richard ; Durhuus, Jon Ambæk ; Hayes, Christine ; Andersen, Ove ; Nilbert, Mef LU ; ... Introduction: Lynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR ...
Andersen-Tawil syndrome was suspected and the diagnosis was confirmed after detection of a previously unreported mutation in ... Síndrome de Andersen/complicações , Síndrome de Andersen/tratamento farmacológico , Síndrome de Andersen/genética , ... Andersen-Tawil syndrome is a rare autosomal dominant genetic or sporadic disorder characterized by periodic paralysis, ... Left ventricle function has been reported in only a few individual cases of Andersen-Tawil syndrome. A 14-year-old female ...
... of the human Kir2.1 channel involved in the Andersen-Tawil syndrome. https://doi.org/10.1101/2024.02.09.579451 ...
  • These changes disrupt the flow of potassium ions, leading to the periodic paralysis and abnormal heart rhythms characteristic of Andersen-Tawil syndrome. (wikipedia.org)
  • These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome. (medlineplus.gov)
  • Andersen-Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. (wikipedia.org)
  • The three predominant features of Andersen-Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an electrocardiogram (a long QT interval) and a tendency to abnormal heart rhythms, physical characteristics including low-set ears and a small lower jaw, and intermittent periods of muscle weakness known as hypokalaemic periodic paralysis. (wikipedia.org)
  • Andersen-Tawil syndrome is inherited in an autosomal dominant pattern. (wikipedia.org)
  • The three groups of features seen in this condition were first described in 1971 by Ellen Andersen, and significant contributions to its understanding were made by Rabi Tawil. (wikipedia.org)
  • Andersen-Tawil Syndrome classically comprises three groups of features: abnormal electrical function of the heart, hypokalemic periodic paralysis, and characteristic physical features, although some of those affected will not exhibit all aspects of the condition. (wikipedia.org)
  • Andersen-Tawil syndrome affects the heart by prolonging the QT interval, a measure of how long it takes the heart to relax after each heart beat. (wikipedia.org)
  • The ventricular tachycardia seen in Andersen-Tawil syndrome often takes a form known as bidirectional ventricular tachycardia. (wikipedia.org)
  • The physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, limbs and spine. (wikipedia.org)
  • The third key feature of Andersen-Tawil syndrome is intermittent muscle weakness. (wikipedia.org)
  • Andersen-Tawil syndrome is a genetic disorder which in the majority of cases is caused by mutations in the KCNJ2 gene. (wikipedia.org)
  • Two types of Andersen-Tawil syndrome have been described, distinguished by the genetic abnormality that is detected. (wikipedia.org)
  • Type 1 Andersen-Tawil, accounting for about 60% of cases, is caused by mutations in the KCNJ2 gene. (wikipedia.org)
  • In type 2 Andersen-Tawil, accounting for about 40% of cases, a KCNJ2 mutation is not identified. (wikipedia.org)
  • Mutations in a related gene encoding a similar potassium ion channel, KCNJ5, have been identified in some of those with type 2 Andersen-Tawil, but in many cases a genetic mutation is not found. (wikipedia.org)
  • Andersen-Tawil syndrome increases the risk of abnormal heart rhythms by disturbing the electrical signals that are used to coordinate individual heart cells. (wikipedia.org)
  • Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. (medlineplus.gov)
  • The signs and symptoms of Andersen-Tawil syndrome vary widely, and they can be different even among affected members of the same family. (medlineplus.gov)
  • Andersen-Tawil syndrome is a rare genetic disorder. (medlineplus.gov)
  • Researchers believe that Andersen-Tawil syndrome accounts for less than 10 percent of all cases of periodic paralysis. (medlineplus.gov)
  • Mutations in the KCNJ2 gene cause about 60 percent of all cases of Andersen-Tawil syndrome. (medlineplus.gov)
  • Researchers have not determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the skeletal changes and other physical abnormalities often found in Andersen-Tawil syndrome. (medlineplus.gov)
  • In the 40 percent of cases not caused by KCNJ2 gene mutations, the cause of Andersen-Tawil syndrome is usually unknown. (medlineplus.gov)
  • Pathogenic variants account for the majority of Andersen-Tawil syndrome (ATS) cases. (ouh.nhs.uk)
  • Andersen-Tawil syndrome: phenotypical variability and atypical presentations in a French cohort Andersen-Tawil syndrome (ATS) is a rare muscle channelopathy linked to mutations in the KCNJ2 gene. (institut-myologie.org)
  • Many causes of sudden death in the pediatric population are due to genetic heart disorders, which can lead to structural abnormalities (eg, hypertrophic cardiomyopathy) and arrhythmogenic abnormalities (eg, familial long QT syndrome ). (medscape.com)
  • This syndrome, once diagnosed by clinical profile, has been more clearly defined by specific genetic defects that cause ion channel abnormalities, resulting in a syndrome that predisposes to lethal cardiac arrhythmias. (medscape.com)
  • Six genetic loci for long QT syndrome have been identified. (medscape.com)
  • The establishment of a long QT syndrome registry and the discovery of genetic mutations that cause long QT syndrome have greatly contributed to the understanding of this condition. (medscape.com)
  • Since the first report in 1991 of a deoxyribonucleic acid (DNA) marker in the short arm of chromosome 11, numerous studies have reported genetic mutations and molecular descriptions of ion channel abnormalities in long QT syndrome. (medscape.com)
  • In 2001, University of Utah researchers showed that Andersen's syndrome, a rare genetic disease involving cardiac arrhythmias, muscle paralysis and abnormal growth, is triggered by a mutation in the Kir2 channel. (salk.edu)
  • Especially at the pediatric age, a higher incidence of ATD is also observed in the context of specific genetic syndromes, such as trisomy 21 (Down syndrome), Klinefelter syndrome, Turner syndrome, or 22q11.2 deletion syndrome. (frontiersin.org)
  • Nevertheless, although thyroid dysfunction may also be observed in other genetic syndromes, such as Prader-Willi or Williams syndrome, the thyroid dysfunction in these syndromes is not the result of thyroid autoimmunity. (frontiersin.org)
  • In this review article the incidence, as well as the clinical manifestation and accompanied pathologies of ATD in specific genetic syndromes will be presented and regular follow-up for the early identification of the disorder will be proposed. (frontiersin.org)
  • This syndrome combines to varying degrees the clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphic syndrome. (institut-myologie.org)
  • The arrhythmias seen in association with the condition can cause sudden cardiac death, but the risk of this is lower than in other forms of long QT syndrome. (wikipedia.org)
  • Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. (medlineplus.gov)
  • Long QT syndrome is a genetically transmitted cardiac arrhythmia caused by ion channel protein abnormalities. (medscape.com)
  • Individuals typically have severe cardiac arrhythmias which may be diagnosed as CPVT, Long QT Syndrome, or idiopathic ventricular fibrillation (IVF). (ouh.nhs.uk)
  • In the study , published online April 26 in Nature , the scientists were able to attribute, for the first time, defects in neuronal migration to Timothy syndrome, a rare condition that predisposes people to autism, epilepsy and cardiac malfunction. (stanford.edu)
  • The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (lu.se)
  • Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (lu.se)
  • Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)
  • Use of an O*NET based job exposure matrix to predict prevalence of carpal tunnel syndrome in a large pooled cohort. (cdc.gov)
  • Thauvin-Robinet-Faivre syndrome is a recently described overgrowth syndrome with typical facial dysmorphic and clinical features. (bvsalud.org)
  • Herein, two new cases of Thauvin-Robinet-Faivre syndrome are reported with overgrowth, intellectual disability, typical dysmorphic signs in one dysplastic kidney, and a novel homozygous FIBP gene variant. (bvsalud.org)
  • This, as in other forms of long QT syndrome, can lead to abnormal heart rhythms such as ventricular ectopy or ventricular tachycardia causing palpitations. (wikipedia.org)
  • Long QT syndrome can be mistaken for palpitations, neurocardiogenic syncope, and epilepsy. (medscape.com)
  • Schwartz et al suggested incorporating clinical and electrocardiogram (ECG) findings in a probability-based diagnostic criteria for long QT syndrome. (medscape.com)
  • [ 2 ] The maximum score is 9, and a score of more 3 indicates a high probability of long QT syndrome. (medscape.com)
  • Long QT syndrome is responsible for approximately 1000 deaths each year in the United States, most of which occur in children and young adults. (medscape.com)
  • Initial studies using monophasic action potentials have shown evidence of early after depolarizations (EADs) in congenital and acquired long QT syndrome. (medscape.com)
  • Jervell and Lang-Nielsen (JLN) syndrome is an autosomal recessive form of congenital long QT syndrome. (medscape.com)
  • Thauvin-Robinet-Faivre syndrome (#617107) is a rare autosomal recessive overgrowth syndrome characterized by intellectual disability, facial dysmorphism, macrocephaly, and variable congenital malformations. (bvsalud.org)
  • Reporting two new cases with this rare autosomal recessive overgrowth syndrome with a novel FIBP gene variant will support and expand the clinical spectrum of Thauvin-Robinet-Faivre syndrome. (bvsalud.org)
  • Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. (bvsalud.org)
  • 3-Methylglutaconic aciduria with normal hydratase (type 4 or special variants), 4a Costeff syndrome or Iraqi-Jewish disease, 4b variant with extrapyramidal signs. (neurometplus.com)
  • Introduction: Lynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 or PMS2. (lu.se)
  • Methods: Ninety-seven urothelial (61 upper tract and 28 bladder) tumors diagnosed from 1980 to 2017 in carriers of Lynch syndrome-associated pathogenic MMR variants and their first-degree relatives (FDR) were analyzed by MMR protein immunohistochemistry, the MSI Analysis System v1.2 (Promega), and an amplicon sequencing-based MSI assay. (lu.se)
  • Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. (bvsalud.org)
  • Despite differences in their patients, the manifestations appeared to represent a spectrum of disease, and several authors suggested that the disorder should be termed Vogt-Koyanagi-Harada syndrome (see the image below). (medscape.com)
  • Somatic second hits in tumors cause MMR deficiency, testing for which is used to screen for Lynch syndrome in colorectal cancer and to guide selection for immunotherapy. (lu.se)
  • Embryonic tumors are especially common in these syndromes. (bvsalud.org)
  • 1994). Request for Assistance in Preventing Organic Dust Toxic Syndrome . (cdc.gov)
  • Andersen ME, Krishnan K. 1994. (cdc.gov)
  • Individualization of treatment according to the specific risk factor and the specific response in the current cycle with the option of freezing of all embryos, or replacement of only a single embryo, has the potential of reducing the risk and the severity of the syndrome in susceptible cases. (springer.com)
  • Data from this study alongside previous studies, suggest that universal MMR deficiency testing of newly diagnosed urothelial cancers, using immunohistochemistry and/or sequencing-based MSI analysis of sensitive markers, offer a potentially useful approach to identification of Lynch syndrome cases. (lu.se)
  • Severe, life-threatening, in some cases fatal, hepatotoxicity and skin reactions (eg, Stevens-Johnson syndrome , toxic epidermal necrolysis , and hypersensitivity reactions characterized by rash, constitutional findings, and organ dysfunction) have been reported. (drugs.com)
  • One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. (biomedcentral.com)
  • It was determined the outbreak may have been pulmonary mycotoxicosis, or Organic Dust Toxic Syndrome (ODTS), which is an acute respiratory illness in workers who inhale dust from contaminated organic materials. (cdc.gov)
  • The most serious side effects have included hepatitis, hepatic failure, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and hypersensitivity reactions. (drugs.com)
  • Therefore, we aimed to compare methods of MMR deficiency testing in Lynch syndrome-associated urothelial cancers. (lu.se)
  • Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)
  • Acute lymphoblastic leukaemia in Noonan syndrome. (lu.se)
  • Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease. (lu.se)
  • Overgrowth syndromes consist of a wide spectrum disorders characterized by prenatal and postnatal excess growth in weight and length, often associated malformations, intellectual disability, and neoplastic predisposition. (bvsalud.org)
  • 5. Bathen T, Hångmann AB, Hoff M, Andersen LØ, Rand-Hendriksen S. Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. (bvsalud.org)
  • Purpose: Metabolic syndrome (MetS) is a cluster of risk factors for developing heart disease, stroke, and type 2 diabetes. (dergipark.org.tr)
  • Using job-title-based physical exposures From O*NET in an epidemiological study of carpal tunnel syndrome. (cdc.gov)
  • Romano-Ward syndrome (RWS) is the dominant form. (medscape.com)
  • A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. (bvsalud.org)
  • Hvis det er nødvendigt at vaske huden, skal der gå en time inden påsmøring af cremen. (molholm.dk)

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