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
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 autosomal recessive disorder characterized by potassium-sensitive periodic paralysis, ventricular arrhythmias, and specific dysmorphic features including low-set ears, hypertelorism, and a short neck.
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.
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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 ... "Andersen's syndrome (Ellen Damgaard Andersen)". www.whonamedit.com. Retrieved 2019-09-16. This article incorporates public ...
Long QT syndrome
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 ...
List of circulatory system conditions
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 ...
Catecholaminergic polymorphic ventricular tachycardia
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 ...
Ellen Damgaard Andersen
... 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 ...
Bioelectricity
"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 ...
Kir2.1
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. ...
Inward-rectifier potassium channel
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 ...
KCNJ12
... 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, ...
KCNJ4
"Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proc. Natl. Acad. Sci. U.S. ...
Periodic paralysis
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 ...
Louis Ptáček
"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". ...
Hypokalemic periodic paralysis
Mutations in KCNJ2 lead to hypokalemic periodic paralysis with cardiac arrhythmias called Andersen-Tawil syndrome.[citation ...
KCNJ6
... 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. ...
Yoshito Kaziro
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 ...
Muscular Dystrophy Association
... such as Andersen-Tawil syndrome, Laing distal myopathy, and Walker-Warburg syndrome. MDA supported the Newborn Screening Saves ...
KCNJ3
Implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430-5. Bibcode:2002PNAS...99.8430C. doi:10.1073/ ...
Romano-Ward syndrome
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 ...
Evans syndrome
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 ...
Acute respiratory distress syndrome
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 ...
Mare reproductive loss syndrome
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 ...
Post-cardiac arrest syndrome
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: ...
Ganser syndrome
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 ...
Syndrome of inappropriate antidiuretic hormone secretion
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 ...
Angelman syndrome
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.[ ...
Ritvo Autism and Asperger Diagnostic Scale
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 ...
List of syndromes
... 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 ...
Johns Hopkins School of Medicine
... 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 ...
Syndrome
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 ...
List of eponymous diseases
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 - Wikipedia
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: MedlinePlus Genetics
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 ...
Sensitive Skin Syndrome - 2nd Edition - Golara Honari - Rosa Andersen
Sensitive Skin Syndrome Edited By Golara Honari, Rosa Andersen, Howard I. Maibach Copyright 2017 ... Rosa Marie Andersen, MD Department of Dermatology, University of California at San Francisco, CA, USA and National Allergy ... Rosa Marie Andersen. 16 Sensitive skin: do we observe an impact on quality of life?. Laurent Misery and Charles Taieb. 17 ... 23 Dermatotoxicology and sensitive skin syndrome Golara Honari and Howard I. Maibach 24 Formulations for sensitive skin Golara ...
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome
Faulty Bioelectric Signaling Via Mutated KCNJ2 Ion Channel Implicated in Facial Abnormalities Seen in Rare Andersen-Tawil...
... have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial ... A Mechanism for Craniofacial Dysmorphogenesis in KCNJ2-Associated Andersen-Tawil Syndrome." Lead author Ms. Dany Spencer Adams ... Bioelectric Signaling Via Mutated KCNJ2 Ion Channel Implicated in Facial Abnormalities Seen in Rare Andersen-Tawil Syndrome; ... Findings May Also Be Relevant to Fetal Alcohol Syndrome & Cancer. February 11, 2016. ...
Andersen Tawil syndrome (medical condition) - Chemwatch
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity - ePrints - Newcastle...
Andersen-Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously ... Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity. Lookup NU author(s): Dr ... Our series illustrates that Andersen-Tawil syndrome is not benign. We report marked neuromuscular morbidity and cardiac risk ... and a significant subset of Andersen-Tawil syndrome patients have no (or few) dysmorphic features or negative long exercise ...
Pediatric Long QT Syndrome: Background, Etiology and Pathophysiology, Prognosis
... 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 ...
Periodic Paralyses Follow-up: Prognosis, Patient Education
Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004. 36 Suppl 1:92-7 ... Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurology. 2002 Aug 13. 59(3 ... Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurology. 2002 Aug 13. 59(3 ... AAEE minimonograph #27: Differential diagnosis of myotonic syndromes. Muscle Nerve. 1987 Sep. 10(7):603-15. [QxMD MEDLINE Link] ...
List of Rare Diseases | A-Z Database | NORD
Andersen-Tawil Syndrome Also known as: Andersen syndrome ATS long QT syndrome 7 LQTS7 ... Antisynthetase Syndrome Also known as: anti-synthetase syndrome AS syndrome ASSD NORD Rare Disease Report Antithrombin ... Antiphospholipid Syndrome Also known as: antiphospholipid antibody syndrome APS APLS Hughes syndrome lupus anticoagulant ... Andersen Disease (GSD IV) Also known as: amylopectinosis Andersen glycogenosis brancher deficiency branching enzyme deficiency ...
ICGNMD Publications | International Centre for Genomic Medicine in Neuromuscular Diseases - UCL - University College London
Andersen-Tawil Syndrome Presenting with Complete Heart Block. Suetterlin K, Männikkö R, Flossmann E, Sud R, Fialho D, ... Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity. Vivekanandam V, Männikkö R, ... Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G,A in MT-CO1. Poole OV, Everett CM, Gandhi S, Marino ... Natural History of Leigh Syndrome: A Study of Disease Burden and Progression. Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston ...
Health Library | Rutgers Cancer Institute of New Jersey
Andersen-Tawill syndrome. EBSCO DynaMed website. Available at:https://www.dynamed.com/condition/andersen-tawil-syndrome. ... The most common types are hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome. ... Periodic Paralysis Syndromes. (Familial Periodic Paralysis; Hyperkalemic Periodic Paralysis; Hypokalemic Periodic Paralysis; ...
AMA Prepares Gag Order for Medical Dissenters - Alliance for Natural Health USA - Protecting Natural Health
Familial Periodic Paralysis - Pediatrics - MSD Manual Professional Edition
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 ...
Jaya Trivedi, M.D. - Faculty Profile - UT Southwestern
Cross-limb communication during Xenopus hindlimb regenerative response: non-local bioelectric injury signals | Development |...
... a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome ... Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K(+) Channel Encoded by KCNJ6 ... Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome ...
Jens Rikardt Andersen
- Resultat
Jens Juhl Otte, Lone Larsen & Jens Rikardt Andersen: Irritable bowel syndrome and symptomatic diverticular disease - different ... Henrik Enghusen Poulsen, Steffen Loft, Jens Rikardt Andersen & Morten Andersen: Disulfiram therapy - adverse drug reactions and ... 3. Jens Rikardt Andersen, Ove Schaffalitzky de Muckadell & Einar Krag: A status of dietary fibres in clinical practice (in ... 6. Jens Rikardt Andersen: Alcoholism/misuse of alcohol. A clinical diagnosis with some possibilities for help from the ...
Vogt-Koyanagi-Harada (VKH) Disease: Background, Etiology, Epidemiology
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]. ...
Work related shoulder disorders: quantitative exposure-response relations with reference to arm posture | Occupational &...
Frost P , Andersen JH. Shoulder impingement syndrome in relation to shoulder intensive work. Occup Environ Med1999;56:494-8. ... Bonde JP, Mikkelsen S, Andersen JH, et al. Prognosis of shoulder tendonitis in repetitive work: a follow up study in a cohort ... Kærgaard A , Andersen JH. Musculoskeletal disorders of the neck and shoulders in female sewing machine operators: prevalence, ... For impingement syndrome defined as a positive abduction internal rotation test combined with shoulder symptoms that had lasted ...
Andorra Prostate Cancer Newswire - EIN Presswire
Workplace Medical Mystery Solved: Influenza-like Illness Sickens Golf Course Worker | Blogs | CDC
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). ...
BrainPharm: Paper - Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G,...
Ganser Syndrome Treatment & Management: Medical Care, Consultations, Activity
Ganser syndrome, as it is now known, has been the subject of much debate since this original paper. Questions about its ... Andersen HS, Sestoft D, Lillebaek T. Ganser syndrome after solitary confinement in prison: a short review and a case report. ... encoded search term (Ganser Syndrome) and Ganser Syndrome What to Read Next on Medscape ... Ganser Syndrome Treatment & Management. Updated: Oct 27, 2021 * Author: Claudia L Reardon, MD; Chief Editor: Glen L Xiong, MD ...
Dr. Matthew Andersen, MD, Nephrology Specialist - Berwyn, IL | Sharecare
Andersen completed a residency at University of Illinois College of Medicine. He currently practices at Nephrology Associates ... Matthew Andersen, MD is a nephrology specialist in Berwyn, IL. Dr. ... Nephrotic Syndrome ... Matthew Andersen, MD fluent in?. Dr. Andersen is able to speak ... Matthew Andersen, MD receive good ratings from patients?. Dr. Matthew Andersen, MD has a star rating of 5.0/5. See more patient ...
Familial Periodic Paralysis - Pediatrics - MSD Manual Professional Edition
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 ...
Takahashi MP Catalogue en ligne
Poster session 2: Epidemiology - International Symposium on the
Use of a dummy (pacifier) during sleep and risk of sudden infant death syndrome (SIDS): population based case-control study |...
Andersen M, *Rognum TO. .Is the use of dummy or carry-cot of importance for sudden infant death?Eur J Pediatr1997;156:968-70. ... Infant sleeping position and the risk of sudden infant death syndrome in California, 1997-2000.Am J Epidemiol2003;157:446-55. ... Use of a dummy (pacifier) during sleep and risk of sudden infant death syndrome (SIDS): population based case-control study BMJ ... The reduction in the incidence of sudden infant death syndrome (SIDS) after the Back to Sleep campaign in the United States and ...
Nutrients | Free Full-Text | Polycystic Ovary Syndrome in Insulin-Resistant Adolescents with Obesity: The Role of Nutrition...
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in young reproductive-aged women. PCOS is often ... Teede, H.J.; Misso, M.L.; Costello, M.F.; Dokras, A.; Laven, J.; Moran, L.; Piltonen, T.; Norman, R.J.; Andersen, M.; Azziz, R ... Syndrome, P.O.; Women, O. Prevalence and Characteristics of the Polycystic Ovary Syndrome in Overweight and Obese Women. Obstet ... Ruan, X.; Li, M.; Mueck, A.O. Why does Polycystic Ovary Syndrome (PCOS) Need Long-term Management? Curr. Pharm. Des. 2018, 24, ...
KCNJ2TawilPolycystic Ovary SyPeriodic paralysisMutationsAbnormalitiesFamilialVentricularClinicalPotassiumPatientsDysmorphicAcuteGeneGeneticallyAutosomal recessiveDisorderMetabolicColorectal cancerSevereTumorsCongenitalOrganicAdolescentsSymptomsPathogenic variantsPalpitationsHereditaryLong QT syndrLynchFrequenciesConditionIntellectual disabilityIncidencePsychiatryExhibitCasesSudden
KCNJ210
- Andersen-Tawil syndrome is a genetic disorder which in the majority of cases is caused by mutations in the KCNJ2 gene. (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 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)
- 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. (nih.gov)
- The open-access article is titled "Bioelectric Signaling Via Potassium Channels: A Mechanism for Craniofacial Dysmorphogenesis in KCNJ2-Associated Andersen-Tawil Syndrome. (bioquicknews.com)
- Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. (yale.edu)
- 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. (modeldb.science)
Tawil23
- 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)
- Two types of Andersen-Tawil syndrome have been described, distinguished by the genetic abnormality that is detected. (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)
- These changes disrupt the flow of potassium ions, leading to the periodic paralysis and abnormal heart rhythms characteristic of Andersen-Tawil syndrome. (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)
- 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)
- Tufts University biologists, and colleagues, have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial abnormalities, a finding that could lead to preventive measures and treatments, not only for ATS, but also for a host of other disorders, from birth defects to cancer. (bioquicknews.com)
- Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. (medscape.com)
- Pellizzón OA, Kalaizich L, Ptácek LJ, Tristani-Firouzi M, Gonzalez MD. Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. (medscape.com)
- Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study. (modeldb.science)
- Known conditions within this subgroup are: Andersen-Tawil syndrome, Birk-Barel syndrome, Cantú syndrome, Keppen-Lubinsky syndrome, Temple-Baraitser syndrome, Zimmerman-Laband syndrome and a very similar disorder called Bauer-Tartaglia or FHEIG syndrome. (qxmd.com)
Polycystic Ovary Sy4
- Polycystic ovary syndrome (PCOS) is strongly associated with abdominal obesity and insulin resistance and effective approaches to nutrition (e.g., omega-3 fatty acids intake) might improve the cardiometabolic risk profile. (frontiersin.org)
- Characterized by a series of manifestations of hyperandrogenemia, persistent anovulation, and ovarian polycystic changes ( 1 ), polycystic ovary syndrome (PCOS) is one of the most common endocrine-metabolic disorders that affects 5 to 10% of women of reproductive age ( 2 ). (frontiersin.org)
- It is unknown whether these benefits extend to women with polycystic ovary syndrome (PCOS), in whom vascular function is typically impaired and sitting time is high. (lww.com)
- Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in females of reproductive age, with a prevalence of 10% when using the broader Rotterdam criteria ( 1 ). (lww.com)
Periodic paralysis1
- Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. (ageing-map.org)
Mutations2
- 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)
Abnormalities5
- 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)
- Long QT syndrome is a genetically transmitted cardiac arrhythmia caused by ion channel protein abnormalities. (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)
- Furthermore, a percentage of females with Turner syndrome have extra folds of skin on the neck, a low hairline at the back of the neck, puffiness of the hands and feet, and skeletal abnormalities in addition to their short stature. (psychiatrist.com)
- Abnormalities in quality of life and cognitive measures have been observed in women with Turner syndrome, and a relationship between these phenomena and chromosomal constitution has been suggested. (psychiatrist.com)
Familial1
- E ditor -The Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome that predisposes gene carriers to the development of diverse early onset malignancies, including soft tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumours, breast carcinomas, and leukaemia, 1-3 with other cancer types occurring less frequently. (bmj.com)
Ventricular1
- 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)
Clinical6
- Schwartz et al suggested incorporating clinical and electrocardiogram (ECG) findings in a probability-based diagnostic criteria for long QT syndrome. (medscape.com)
- 17. Jens Juhl Otte & Jens Rikardt Andersen: The clinical value of faecal bile acid determination in patients with chronic diarrhoea of unknown origin. (ku.dk)
- 9 mink skinners had decreases in nerve conduction, 5 fulfilled electrodiagnostic criteria and 4 fulfilled electrodiagnostic and clinical criteria (a positive Katz hand diagram) for carpal tunnel syndrome (CTS). (sjweh.fi)
- BO and its clinical correlate bronchiolitis obliterans syndrome (BOS) affect up to 50-60% of patients who survive 5 yrs after surgery, irrespective of the type of transplant procedure 1 , 4 - 6 . (ersjournals.com)
- Thauvin-Robinet-Faivre syndrome is a recently described overgrowth syndrome with typical facial dysmorphic and clinical features. (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)
Potassium1
- Electrifying dysmorphology': Potassium channelopathies causing dysmorphic syndromes. (qxmd.com)
Patients7
- 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)
- At present, Dr. Andersen received an average rating of 5.0/5 from patients and has been reviewed 20 times. (sharecare.com)
- The aim of this report is to explore the psychiatric manifestations and comorbidities in patients with Turner syndrome. (psychiatrist.com)
- Patients with a suspected acute coronary syndrome should be observed, with repeat 12 lead ECG recording, during symptoms if the opportunity arises. (bmj.com)
- Patients with a confirmed acute coronary syndrome should be admitted to a cardiac care unit or high dependency unit with continuous ECG rhythm monitoring. (bmj.com)
- Patients who have had ischaemic ECG changes, or cardiac troponin release or raised CK-MB enzyme demonstrated at any time during admission, have a confirmed acute coronary syndrome. (bmj.com)
- By studying other SARS and Middle East respiratory syndrome coronaviruses, it is hypothesized that patients with COVID‑19 may lack sufficient antiviral T‑cell responses, which consequently present with innate immune response disorders. (spandidos-publications.com)
Dysmorphic1
- 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)
Acute8
- 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)
- Inpatient treatment may be needed during the acute phase of Ganser syndrome. (medscape.com)
- Restrict general activity to allow close observation during the acute phase of Ganser syndrome. (medscape.com)
- Confirmed acute coronary syndrome. (bmj.com)
- Recently, severe acute respiratory syndrome (SARS) coronavirus (CoV) 2 (SARS‑CoV‑2)‑causing CoV disease 2019 (COVID‑19) emerged in China and has become a global pandemic. (spandidos-publications.com)
- The virus was first officially named the 2019 novel coronavirus (nCoV) by the World Health Organization (WHO) and subsequently termed 'severe acute respiratory syndrome CoV 2 (SARS-CoV-2)' by The International Committee on Nomenclature of Viruses. (spandidos-publications.com)
- The virus primarily infects the respiratory tract, resulting in pneumonia, acute respiratory distress syndrome (ARDS) and other fatal complications, including acute kidney injury, coagulation dysfunction and shock, according to a published report ( 4 ). (spandidos-publications.com)
- Mortality is high in acute aortic syndrome (AAS), which therefore requires early treatment. (revespcardiol.org)
Gene3
- Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. (wakehealth.edu)
- Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. (bvsalud.org)
- A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. (bvsalud.org)
Genetically1
- Junker J, Haverkamp W, Schulze-Bahr E, Eckardt L, Paulus W, Kiefer R. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. (medscape.com)
Autosomal recessive3
- 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)
- Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. (bvsalud.org)
Disorder2
- Turner syndrome is named after Henry H. Turner, MD, who, in 1938, was one of the first doctors to report on this disorder in the medical literature. (psychiatrist.com)
- She had a history of depression since 2015, and a medical history of seizure disorder, hypothyroidism, and Turner syndrome. (psychiatrist.com)
Metabolic2
- In 2013, she presented to the BronxCare Endocrinology and Obstetrics and Gynecology Clinic and was found to have minimal complications thus far with no cardiovascular issues, sensorineural hearing impairment, hypothyroidism, or metabolic syndrome but definitely was at risk for osteopenia base on dual-energy x-ray scan. (psychiatrist.com)
- Excessive insulin level is not only a potential cause of hyperandrogenemia but also one of the high-risk factors leading to metabolic syndromes among those with PCOS ( 6 ). (frontiersin.org)
Colorectal cancer1
- 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)
Severe1
- Studies 5 in the last 12 years show consistently more severe depressive symptoms in individuals with Turner syndrome than in previous years. (psychiatrist.com)
Tumors2
- 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)
- Embryonic tumors are especially common in these syndromes. (bvsalud.org)
Congenital1
- Initial studies using monophasic action potentials have shown evidence of early after depolarizations (EADs) in congenital and acquired long QT syndrome. (medscape.com)
Organic3
- 1994). Request for Assistance in Preventing Organic Dust Toxic Syndrome . (cdc.gov)
- Lee HB, Koenig T. A case of Ganser syndrome: organic or hysterical? (medscape.com)
- A large number of studies in occupational epidemiology has shown that exposure to endotoxins increases the likelihood of organic dust toxic syndrome, chronic bronchitis, and asthma-like syndrome. (bmj.com)
Adolescents2
- Miller P, Bramble D, Buxton N. Case study: Ganser syndrome in children and adolescents. (medscape.com)
- 5 Adolescents and adults with Turner syndrome are at risk for depression, and adulthood appears to be the period of highest risk. (psychiatrist.com)
Symptoms1
- Carpal tunnel syndrome (CTS) is an impairment of the median nerve at the wrist with symptoms including numbness, tingling, and pain in the radial part of the hand ( 1 ). (sjweh.fi)
Pathogenic variants1
- 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)
Palpitations1
- Long QT syndrome can be mistaken for palpitations, neurocardiogenic syncope, and epilepsy. (medscape.com)
Hereditary1
- Hereditary Breast and Ovarian Cancer syndrome (HBOC) carriers face complex decisions, which might affect their fertility and body image. (mdpi.com)
Long QT syndr4
- 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)
- [ 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)
- Six genetic loci for long QT syndrome have been identified. (medscape.com)
Lynch3
- Therefore, we aimed to compare methods of MMR deficiency testing in Lynch syndrome-associated urothelial cancers. (lu.se)
- Conclusion: Our results show that Lynch syndrome-associated urothelial cancers frequently had loss of MMR protein expression. (lu.se)
- 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)
Frequencies2
- Dr. Andersen has experience treating conditions like Magnesium Metabolism Disorders and Mineral Metabolism Disorders among other conditions at varying frequencies. (sharecare.com)
- To describe the intake frequencies of selected foods in participants with Prader-Willi syndrome (PWS), Down syndrome (DS), and Williams syndrome (WS), and investigate the association with body mass index (BMI). (foodandnutritionresearch.net)
Condition1
- 6 No defined psychiatric condition has been traditionally related to Turner syndrome, and it is not mentioned in the DSM-5 . (psychiatrist.com)
Intellectual disability1
- 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)
Incidence1
- The reduction in the incidence of sudden infant death syndrome (SIDS) after the Back to Sleep campaign in the United States and other countries showed that sleep environment strongly influences the risk of SIDS, 1 2 although the underlying mechanisms remain poorly understood. (bmj.com)
Psychiatry1
- Kaplan & Sadock's Synopsis of Psychiatry 7 only mention Turner syndrome as a side note on intersex conditions and not in any psychiatric context. (psychiatrist.com)
Exhibit1
- Individuals with Turner syndrome exhibit relatively normal verbal IQ, but they possess weaknesses in visual-spatial and executive areas of their cognitive profile. (psychiatrist.com)
Cases1
- Sigal M, Altmark D, Alfici S. Ganser syndrome: a review of 15 cases. (medscape.com)
Sudden1
- Objectives To examine the association between use of a dummy (pacifier) during sleep and the risk of sudden infant death syndrome (SIDS) in relation to other risk factors. (bmj.com)
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