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.
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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-tawil syndrome - Overview: What is Andersen-Tawil Syndrome? | ThinkGenetic
Andersen-Tawil syndrome - Wikipedia
Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles - Tan - 2012 - Muscle & Nerve - Wiley...
KCNJ2 gene - Genetics Home Reference - NIH
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome | Journal of Medical...
Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome - Full Text View - ClinicalTrials.gov
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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, ... 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 ... Many children with Timothy syndrome who survive longer than this have features of autism spectrum disorder. Timothy syndrome is ...
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 ...
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 ...
Kir2.1
GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome OMIM entries on Anderson-Tawil syndrome KCNJ2+protein,+human at the US ... 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. ...
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 ...
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 ...
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 ...
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 ...
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 ...
KCNJ3
Implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430-5. Bibcode:2002PNAS...99.8430C. doi:10.1073/ ...
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: ...
Failed back syndrome
Andersen T, et al. (2001). "Smoking as a Predictor of Negative Outcome in Lumbar Spinal Fusion". Spine. 26 (23): 2623-28. doi: ... Failed back syndrome or post-laminectomy syndrome is a condition characterized by chronic pain following back surgeries. Many ... The term "post-laminectomy syndrome" is used by some doctors to indicate the same condition as failed back syndrome. The ... do not cause post laminectomy/laminotomy syndrome. Failed back syndrome (FBS) is a well-recognized complication of surgery of ...
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 ...
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 ...
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 ...
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 ...
Johns Hopkins School of Medicine
McCune-Albright syndrome Dorothy Hansine Andersen - identified cystic fibrosis and Andersen's disease John Auer - physiologist ... described Lesch-Nyhan syndrome William Osler - Father of modern medicine; Osler-Weber-Rendu syndrome (hereditary hemorrhagic ... described Lesch-Nyhan syndrome Bart Loeys - pediatric geneticist; described Loeys-Dietz syndrome[citation needed] Howard Markel ... described Li-Fraumeni syndrome; trained at Johns Hopkins Irwin Freedberg - former Director of Dermatology Ernest William ...
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 - ...
CDC25C
Andersen JL, Planelles V (2005). "The role of Vpr in HIV-1 pathogenesis". Curr. HIV Res. 3 (1): 43-51. doi:10.2174/ ... a causative agent of the AIDS-related insulin resistance/lipodystrophy syndrome?". Ann. N. Y. Acad. Sci. 1024 (1): 153-67. ...
Sexual anomalies
"Klinefelter syndrome - Symptoms and causes". Mayo Clinic. Retrieved 2021-04-01. Gravholt, Claus H; Andersen, Niels H; Conway, ... This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis. Males ... Klinefelter syndrome and Turner syndrome). Thirdly, the term 'DSD' lacks specificity and clarity; and therefore unhelpful in ... Turner syndrome is classified as aneuploidy or structural rearrangement of the X chromosome. Signs and symptoms of affected ...
Levothyroxine
Gidén, Karin; Andersen, Jon Traerup; Torp-Pedersen, Arendse Laerke; Enghusen Poulsen, Henrik; Torp-Pedersen, Christian; Jimenez ... Levothyroxine absorption is increased by fasting and decreased in certain malabsorption syndromes, by certain foods, and with ... starting at higher doses may cause an acute coronary syndrome or an abnormal heart rhythm. Hypothyroidism is common among ...
Jan Aaseth
Cao, Y., Skaug, M. A., Andersen, O., & Aaseth, J. (2015). Chelation therapy in intoxications with mercury, lead and copper. ... Common rheumatic diseases include rheumatoid arthritis, Sjögren's syndrome, systemic lupus erythematosus, and also fibromyalgia ... Aaseth, J., Skaug, M. A., Cao, Y., & Andersen, O. (2015). Chelation in metal intoxication-principles and paradigms. Journal of ... Flaten, T. P., Aaseth, J., Andersen, O., & Kontoghiorghes, G. J. (2012). Iron mobilization using chelation and phlebotomy. ...
Glucocorticoid receptor
Andersen JL, Planelles V (January 2005). "The role of Vpr in HIV-1 pathogenesis". Current HIV Research. 3 (1): 43-51. doi: ... a causative agent of the AIDS-related insulin resistance/lipodystrophy syndrome?". Annals of the New York Academy of Sciences. ...
Lassa fever
Severe Acute Respiratory Syndrome-CoV and Middle East Respiratory Syndrome-CoV), hemorrhagic fever viruses (Lassa and Ebola), ... Andersen, K.; Sabeti, P. C.; Happi, C. T.; Akpede, G. O.; Günther, S. (2012). Bausch, Daniel G (ed.). "Molecular Diagnostics ... A "Swollen baby syndrome" may occur in newborns, infants and toddlers with pitting edema, abdominal distension and bleeding. ...
Stepped-wedge trial
Løhaugen GC, Beneventi H, Andersen GL, Sundberg C, Østgård HF, Bakkan E, Walther G, Vik T, Skranes J (July 2014). "Do children ... wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A ...
Appendicitis
Andersen BR, Kallehave FL, Andersen HK (July 2005). "Antibiotics versus placebo for prevention of postoperative infection after ... distal intestinal obstruction syndrome in children with cystic fibrosis; typhlitis in children with leukemia. Women: A ...
BAZ1B
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (January 2005). "Nucleolar proteome dynamics". Nature. 433 ( ... Lu X, Meng X, Morris CA, Keating MT (December 1998). "A novel human gene, WSTF, is deleted in Williams syndrome". Genomics. 54 ... This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. ... December 2004). "The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to ...
Semaglutide
Bjerre Knudsen, Lotte; Madsen, Lars Wichmann; Andersen, Søren; Almholt, Kasper; de Boer, Anne S.; Drucker, Daniel J.; ... Metabolic Syndrome. 16 (6): 102539. doi:10.1016/j.dsx.2022.102539. PMID 35709586. S2CID 249584781. "Semaglutide". Drug ... with a personal or family history of medullary thyroid carcinoma and in patients with multiple endocrine neoplasia syndrome ...
Evil Queen
Betsy Cohen, The Snow White Syndrome: All About Envy, pages 6, 14. Jo Eldridge Carney, Fairy Tale Queens: Representations of ... as told by Hans Christian Andersen. According to Kenny Klein, the enchantress Ceridwen of the Welsh mythology was "the ...
Brain-computer interface
Andersen's group used recordings of premovement activity from the posterior parietal cortex in their BCI, including signals ... Their patient, Johnny Ray (1944-2002), developed 'locked-in syndrome' after having a brain-stem stroke in 1997. Ray's implant ... Musallam S, Corneil BD, Greger B, Scherberger H, Andersen RA (July 2004). "Cognitive control signals for neural prosthetics". ... for Brain Science at Brown University and the labs of Andrew Schwartz at the University of Pittsburgh and Richard Andersen at ...
Child care
Esping-Andersen, Gosta; Garfinkel, Irwin; Han, Wen-Jui; Magnuson, Katherine; Wagner, Sander; Waldfogel, Jane (1 March 2012). " ... leave Magda Gerber Au pair Nursery school Kindergarten Forest kindergarten Playwork Child development Forgotten baby syndrome ...
LRP5
Frost M, Andersen T, Gossiel F, Hansen S, Bollerslev J, van Hul W, Eastell R, Kassem M, Brixen K (Aug 2011). "Levels of ... A loss-of-function mutation causes osteoporosis pseudoglioma syndrome with a decrease in bone mass, while a gain-of-function ... Frost M, Andersen TE, Yadav V, Brixen K, Karsenty G, Kassem M (Mar 2010). "Patients with high-bone-mass phenotype owing to Lrp5 ... Van Hul E, Gram J, Bollerslev J, Van Wesenbeeck L, Mathysen D, Andersen PE, Vanhoenacker F, Van Hul W (Jun 2002). "Localization ...
Copenhagen disease
Andersen J, Rostgaard-Christensen E (September 1991). "Progressive noninfectious anterior vertebral fusion". The Journal of ... Malagelada F, Sewell MD, Fahmy A, Gibson A (April 2015). "Long-term clinical and radiological outcomes of Copenhagen syndrome ... Copenhagen disease, sometimes known as Copenhagen syndrome or progressive non-infectious anterior vertebral fusion (PAVF), is a ... Hughes RJ, Saifuddin A (June 2006). "Progressive non-infectious anterior vertebral fusion (Copenhagen Syndrome) in three ...
Norepinephrine transporter
Gether U, Andersen PH, Larsson OM, Schousboe A (July 2006). "Neurotransmitter transporters: molecular function of important ... phenotype of impaired neuronal reuptake of norepinephrine has been implicated in both postural orthostatic tachycardia syndrome ...
Solar System
Jorgensen, J. L.; Benn, M.; Connerney, J. E. P.; Denver, T.; Jorgensen, P. S.; Andersen, A. C.; Bolton, S. J. (March 2021). " ... "Great Expectations Syndrome"". Acta Palaeontologica Polonica. 57 (4): 681-702. doi:10.4202/app.2011.0058. ISSN 0567-7920. S2CID ...
List of Ig Nobel Prize winners
Andersen was the accounting firm most identified with the scandals, having been indicted on criminal charges stemming from its ... "Didgeridoo playing as alternative treatment for obstructive sleep apnoea syndrome: randomised controlled trial". BMJ. 332 (7536 ... All companies except for Arthur Andersen were forced to restate their financial reports due to false or incorrect accounting. ... and Arthur Andersen, for adapting the mathematical concept of imaginary numbers for use in the business world. ( ...
Trisynaptic circuit
See also: EC-hippocampus system Andersen, P. (1975). Organization of hippocampal neurons and their interconnections. In R.L. ... Retrieved October 4, 2014 from http://www.webmd.com/sleep-disorders/guide/understanding-obstructive-sleep-apnea-syndrome. Pang ...
Christian Tybring-Gjedde
Diagnosed with stress syndrome, he has experienced epileptic seizures and episodes of amnesia. His daughter from his first ... Andersen, Mads A.; Johnsrud, Ingar; Grøttum, Eva-Therese; Glomnes, Lars M. (2011-05-14). "Støre slakter Frp-utspill: - Grenser ... Johnsrud, Ingar; Andersen, Mads A. (2011-05-13). "Frp-topp: - Innvandrergutter blir hissigere enn norske". Verdens Gang (in ... Andersen, Kent; Tybring-Gjedde, Christian (2010-08-26). "Drøm fra Disneyland". Aftenposten (in Norwegian). Archived from the ...
Primidone
This syndrome consists of fever, rash, peripheral leukocytosis, lymphadenopathy, and occasionally hepatic necrosis. ... Sher, A.; J. M. Andersen; S. C. Bhatia (July-August 1983). "Primidone-induced catatonic schizophrenia". Drug Intelligence & ... Primidone also causes exfoliative dermatitis, Stevens-Johnson syndrome, and toxic epidermal necrolysis. Primidone, along with ... Schlienger, Raymond G.; Shear, Neil H. (1998). "Antiepileptic drug hypersensitivity syndrome". Epilepsia. 39 (Suppl 7): S3-7. ...
Hippocampus
Andersen P, Morris R, Amaral D, Bliss T, O'Keefe J (2006). The Hippocampus Book. Oxford University Press. ISBN 978-0199880133. ... This atrophy results in a smaller hippocampal volume which is also seen in Cushing's syndrome. The higher levels of cortisol in ... Amaral D, Lavenex P (2006). "Ch 3. Hippocampal Neuroanatomy". In Andersen P, Morris R, Amaral D, Bliss T, O'Keefe J (eds.). The ... After treatment with medication to reduce cortisol in Cushing's syndrome, the hippocampal volume is seen to be restored by as ...
Atypical antipsychotic
Haddad P, Haddad PM, Dursun S, Deakin B (2004). Adverse Syndromes and Psychiatric Drugs: A Clinical Guide. OUP Oxford. pp. 207- ... Rothschild AJ, Williamson DJ, Tohen MF, Schatzberg A, Andersen SW, Van Campen LE, et al. (August 2004). "A double-blind, ... neuroleptic malignant syndrome, and increased risk of stroke, sudden cardiac death, blood clots, and diabetes. Significant ... drugs after long-term therapy should always be gradual and closely monitored to avoid the risk of acute withdrawal syndromes or ...
CECR1
Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene. This gene encodes a member ... Charlab R, Valenzuela JG, Andersen J, Ribeiro JM (2001). "The invertebrate growth factor/CECR1 subfamily of adenosine deaminase ... 2001). "Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for ... It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding ...
Wolfgang Patsch
Other genetic factors with relevance for obesity, type 2 diabetes and the metabolic syndrome also were studied in collaboration ... Andersen PM, Witting A, Ludolph AC, Patsch W, Weydt P. PGC-1α is a male-specific disease modifier of human and experimental ...
MicroRNA
Chen C, Ridzon DA, Broomer AJ, Zhou Z, Lee DH, Nguyen JT, Barbisin M, Xu NL, Mahuvakar VR, Andersen MR, Lao KQ, Livak KJ, ... structure of the hairpins in a pri-miRNA is recognized by a nuclear protein known as DiGeorge Syndrome Critical Region 8 (DGCR8 ... or "Pasha" in invertebrates), named for its association with DiGeorge Syndrome. DGCR8 associates with the enzyme Drosha, a ...
Fall prevention
Gade, Gustav Valentin; Jørgensen, Martin Grønbech; Ryg, Jesper; Riis, Johannes; Thomsen, Katja; Masud, Tahir; Andersen, Stig ( ... postural orthostatic tachycardia syndrome Neurological and sensory disturbances - muscle weakness of lower limbs, deep ...
Abortion in India
Foetuses of two women, in their 29th and 30th week of pregnancy were both diagnosed with Arnold Chiari Type II syndrome. Based ... Banerjee, Sushanta K.; Kumar, Rakesh; Warvadekar, Janardan; Manning, Vinoj; Andersen, Kathryn Louise (21 March 2017). "An ... "SC allows women to abort foetus with Arnold Chiari syndrome". Hindustan Times. 9 October 2017. Retrieved 2 July 2018. "Bombay ... "SC denies permission to abort 26-week-old foetus suffering from Down's Syndrome". Hindustan Times. 28 February 2017. Retrieved ...
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 ...
Ventricular Fibrillation: Background, Pathophysiology, Etiology
Patients with Andersen-Tawil syndrome have low-set ears, hypertelorism, micrognathia, syndactyly, and short stature. [31] They ... Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology. 2006 Jun 13. 66 (11):1703-10. [QxMD MEDLINE Link] ... Andersen-Tawil syndrome is chiefly characterized by the triad of periodic flaccid paralysis, prolonged QT interval, and ... Brugada syndrome. Brugada syndrome was first described in 1992 by Brugada and Brugada. [48] It is characterized by a specific ...
Weir R[au] - Search Results - PubMed
Ventricular Tachycardia Clinical Presentation: History, Physical Examination
Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology. 2006 Jun 13. 66 (11):1703-10. [QxMD MEDLINE Link] ... Brugada syndrome. Eur Heart J. 2010 Feb. 31 (3):330-9. [QxMD MEDLINE Link]. [Full Text]. ... Short QT syndrome: a review. Cardiol Rev. 2009 Nov-Dec. 17 (6):300-3. [QxMD MEDLINE Link]. ... Large genomic imbalances in Brugada syndrome. PLoS One. 2016. 11 (9):e0163514. [QxMD MEDLINE Link]. [Full Text]. ...
MESH TREE NUMBER CHANGES - 2008 MeSH
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 ...
Neuromuscular Conditions
73573004 - Congenital anomaly of musculoskeletal system - SNOMED CT
Andersen Tawil syndrome 422348008. *Bone and joint malformation 238216006 removed: 2014-07-31 ... Congenital malformation syndromes involving limbs 205812004. *Congenital malformation syndromes with other skeletal changes ... Other specified dwarfing syndromes 205472003 removed: 2010-01-31. *Other specified muscle, tendon and fascia anomaly 205522003 ... Intellectual disability with cataract and kyphosis syndrome 722003007. *Ophthalmoplegia, intellectual disability, lingua ...
Romano-ward syndrome in a family with index case presenting as cardiac asystole | Pediatric Oncall Journal
Romano-Ward Syndrome in a Family with Index Case Presenting as Cardiac Asystole ... LQT7 is also known as Andersen syndrome (5) . It is a potassium sensitive periodic paralysis with low set ears, micrognathia ... Mutations in Kir-2.1 cause the developmental and episodic electrical phenotype of Andersens syndrome. Cell 2001; 105: 511-19. ... Influence of genotype on the clinical course of the long QT syndrome. Int. LQT syndrome Registry Research Group N Engl J Med ...
kcnj5 Literature [Xenopus] - Xenbase Gene Catalog
Mutational Scanning: Ion-ing out the genetic variants of Kir2.1 | eLife
Polycystic ovary syndrome - References | BMJ Best Practice US
Associated with insulin resistance, metabolic syndrome, nonalcoholic fatty liver disease, and increased risk of developing type ... Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. A leading cause of infertility ... Eriksen MB, Brusgaard K, Andersen M, et al. Association of polycystic ovary syndrome susceptibility single nucleotide ... Metabolic syndrome in polycystic ovary syndrome: a systematic review, meta-analysis and meta-regression. Obes Rev. 2019 Feb;20( ...
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). ...
Tufts University: The Levin Lab, Department of Biology: Resources
World Journal of Gastroenterology - Baishideng Publishing Group
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol 2019;15 ... Lin AE, Prakash SK, Andersen NH, Viuff MH, Levitsky LL, Rivera-Davila M, Crenshaw ML, Hansen L, Colvin MK, Hayes FJ, Lilly E, ... Estrogen Replacement in Turner Syndrome. Turner Syndrome 2020. [DOI: 10.1007/978-3-030-34150-3_5] [Reference Citation Analysis] ... Aly J, Kruszka P. Novel insights in Turner syndrome. Current Opinion in Pediatrics 2022;Publish Ahead of Print. [DOI: 10.1097/ ...
Orla Hardiman : School of Medicine - Trinity College Dublin
Lefter S, Hardiman O, Costigan D, Lynch B, McConville J, Hand CK, Ryan AM., Andersen-tawil syndrome with early fixed myopathy, ... Kollewe K, Andersen P.M, Borasio G.D, Hardiman O, Leigh P.N, Pradat P.F, Silani V, Tomik B, Dengler R, Good practice in the ... Andersen P.M, Abrahams S, Borasio G.D, de Carvalho M, Chio A, Van Damme P, Hardiman O, Kollewe K, Morrison K.E, Petri S, Pradat ... Blauw H.M, Al-Chalabi A, Andersen P.M, van Vught P.W, Diekstra F.P, van Es M.A, Saris C.G, Groen E.J, van Rheenen W, Koppers M ...
ESC 365 - Catecholaminergic polymorphic ventricular tachycardia: risk modulators in patients treated with beta-blockers
Yellow nail syndrome: a review | Orphanet Journal of Rare Diseases | Full Text
... is also considered a paraneoplastic syndrome. YNS management is symptomatic and not codified. YNS can resolve spontaneously. ... Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age ... Nordkild P, Kromann-Andersen H, Struve-Christensen E. Yellow nail syndrome - the triad of yellow nails, lymphoedema, and ... Yellow nail syndrome following Guillain-Barré syndrome. Clin Exp Dermatol. 1997;22:253-4. doi:10.1111/j.1365-2230.1997.tb01084. ...
Kcnj5 Mouse Gene Details | potassium inwardly-rectifying channel, subfamily J, member 5 | International Mouse Phenotyping...
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin. OMIM:182190. Cardiomyopathy, Dilated, With Woolly ... Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac.... OMIM:194200. ... Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular.... OMIM:600858. ... Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro.... OMIM:613690. ...
PMARP - Overview: Postmortem Arrhythmia Panel, Varies
... a postmortem genetic evaluation in the setting of sudden unexplained death and suspicion for long QT or Brugada syndrome ... Brugada syndrome (BrS) and long QT syndrome (LQTS) are inherited forms of cardiac arrhythmia that may cause sudden cardiac ... If testing was performed because of a family history of long QT syndrome, Brugada syndrome or a related disorder, it is often ... Brugada Syndrome Multi-Gene Panel, Blood or LQTGP / Long QT Syndrome Multi-Gene Panel, Blood.. ...
Find Research outputs
- Yonsei University
Find Research outputs - Manipal Academy of Higher Education, Manipal, India
Complete histologic response to chemotherapy in a patient with a mediastinal yolk sac tumor: a case report | BMC Research Notes...
Hasle H, Jacobsen BB, Asschenfeldt P, Andersen K: Mediastinal germ cell tumour associated with klinefelter syndrome. A report ... Hasle H, Mellemgaard A, Nielsen J, Hansen J: Cancer incidence in men with Klinefelter syndrome. Br J Cancer. 1995, 71 (2): 416- ... such as an association with Klinefelter syndrome and the frequent development of a hematologic malignancy[5-7]. ...
Turner syndrome - References | BMJ Best Practice US
Gravholt CH, Andersen NH, Conway GS; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care ... Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the ... Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the ... 3. Gravholt CH, Andersen NH, Conway GS; International Turner Syndrome Consensus Group. Clinical practice guidelines for the ...
Department of Emergency and Critical Care Medicine - Research output - Keio University
Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes. Kuroda, Y ... Evaluation of severity for systemic inflammatory response syndrome and sepsis. Kurihara, T., Fujishima, S. & Aikawa, N., 2004 ... Embryonic type Na + channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome. Okata, S., Yuasa, S., Suzuki, T ... Feasibility and safety of hydrogen gas inhalation for post-cardiac arrest syndrome-first-in-human pilot study. Tamura, T., ...
Genome-wide association study of Tourette's syndrome | Molecular Psychiatry
Tourettes syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among ... Sebastiani P, Solovieff N, Puca A, Hartley SW, Melista E, Andersen S et al. Genetic signatures of exceptional longevity in ... Miranda DM, Wigg K, Kabia EM, Feng Y, Sandor P, Barr CL . Association of SLITRK1 to Gilles de la Tourette Syndrome. Am J Med ... Scharf, J., Yu, D., Mathews, C. et al. Genome-wide association study of Tourettes syndrome. Mol Psychiatry 18, 721-728 (2013 ...
OGPPH Publications | CDC
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: ...
Lily Jan, PhD | Biomedical Sciences Graduate Program
PMID- 21949453
Andersen Syndrome/genetics MH - Arrhythmias, Cardiac/genetics/*physiopathology MH - *Electrocardiography MH - Ether-A-Go-Go ... Why the Brugada syndrome is not yet a disease: syndromes, diseases, and genetic causality. PG - 361-3 FAU - Coronel, Ruben AU ... Sick Sinus Syndrome/*genetics MH - Sodium Channels/*genetics/*physiology MH - Syndrome MH - Time Factors MH - Transfection EDAT ... Brugada Syndrome/*classification/genetics/pathology MH - Humans MH - Long QT Syndrome/genetics/pathology MH - Mutation MH - ...
TawilPERIODIC PARALYSISRomano-Ward SynArrhythmia syndromesGlycogen stLQTSPolycystic ovary syPrevalenceBrugada SyndromeKCNJ2MutationsOMIMGeneticsDiseasesGravholt CHDiseaseGenesAutosomal dominant2016SkeletalGeneticChannelopathiesAngelman SyndromeAbstractGeneSuddenDisorderSymptomsClinicalIrritableLong QT typeAcute coronaryColorectal cancerTypeDiagnosis of long QT syndrToxic syndromeChildhood
Tawil12
- Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. (medlineplus.gov)
- Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. (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)
- 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)
- 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)
- Ardissone A, Sansone V, Colleoni L, Bernasconi P, Moroni I. Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition. (medlineplus.gov)
- Neurology Advisor spoke with Annabelle Baughan, a retired hematologist-oncologist, who discussed her personal experience with Andersen-Tawil syndrome. (medicalbag.com)
- In Andersen-Tawil syndrome (ATS), potassium levels are inconsistent during attacks. (medicalbag.com)
PERIODIC PARALYSIS3
- 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 . (bvsalud.org)
- Mutations of potassium channels in the Kv and Kir families cause diseases of the brain (epilepsy, episodic ataxia), ear (deafness), kidney (hypertension), pancreas (hyperinsulinemic hypoglycemia of infancy), heart (arrhythmia), skeletal muscle (periodic paralysis), as well as developmental abnormalities of neural crest-derived tissues (Andersen's syndrome). (ucsf.edu)
- Sansone V, Griggs RC, Meola G. Andersen''s syndrome: a distinct periodic paralysis. (medscape.com)
Romano-Ward Syn6
- Prasad R, Mishra O P, Reddy N, Singh M N. Romano-Ward Syndrome in a Family with Index Case Presenting as Cardiac Asystole. (pediatriconcall.com)
- Romano-ward syndrome is an autosomal dominant disorder characterized by prolonged QT interval, which may present with cardiac events such as syncope, cardiac arrest and sudden death in healthy children. (pediatriconcall.com)
- The diagnosis of congenital Long QT syndrome (Romano-Ward syndrome) was made. (pediatriconcall.com)
- Romano-Ward Syndrome is an autosomal dominant disorder characterized by syncopal and fainting attacks often precipitated by physical and emotional stress (fear, anger, loud noise, medications, sudden awakening) (2) but none were present in our patient. (pediatriconcall.com)
- Autosomal dominant form is called Romano-Ward syndrome. (ivami.com)
- Disruption of these channel proteins KCNQ1 found in: long QT type 1 family atrial fibrillation, Jervell and Lange-Nielsen, Romano-Ward syndrome, Short QT syndrome and sudden death syndrome syndrome childhood (SIDS). (ivami.com)
Arrhythmia syndromes1
- SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes. (ukm.de)
Glycogen st1
- Glycogen storage disease type IV (GSD IV), or Andersen disease, is an autosomal recessive disorder caused by mutations in the gene-encoding glycogen-branching enzyme necessary for normal glycogen metabolism. (medscape.com)
LQTS5
- Long QT syndrome (LQTS) can present as unexpected fainting, ventricular arrhythmias and sudden cardiac death in patients with structurally normal hearts. (blueprintgenetics.com)
- In contrast biallelic mutations in KCNQ1 cause Jervell and Lange-Nielsen syndrome (JLNS), which is more severe LQTS phenotype with or without congenital deafness. (blueprintgenetics.com)
- Congenital long QT syndrome (LQTS) is one of the most common cardiac channelopathies and is characterized by prolonged ventricular repolarization and life-threatening arrhythmias. (annalspc.com)
- The congenital long QT syndrome (LQTS) is an inherited channelopathy characterized by prolongation of the QT interval on the surface electrocardiogram and by the occurrence of life-threatening ventricular arrhythmias. (annalspc.com)
- Several genotypes of long QT syndrome (LQTS: Long QT Syndromes). (ivami.com)
Polycystic ovary sy19
- Zawadzki JK, Dunaif A. Diagnostic criteria for polycystic ovary syndrome: towards a rational approach. (bmj.com)
- Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. (bmj.com)
- Positions statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an Androgen Excess Society guideline. (bmj.com)
- Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. (bmj.com)
- International evidence-based guideline for the assessment and management of polycystic ovary syndrome. (bmj.com)
- First-line ovulation induction for polycystic ovary syndrome: an individual participant data meta-analysis. (bmj.com)
- The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report. (bmj.com)
- The prevalence and features of the polycystic ovary syndrome in an unselected population. (bmj.com)
- The prevalence and phenotypic features of polycystic ovary syndrome: a systematic review and meta-analysis. (bmj.com)
- A survey of the polycystic ovary syndrome in the Greek island of Lesbos: hormonal and metabolic profile. (bmj.com)
- A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain. (bmj.com)
- Polycystic ovary syndrome in Mexican-Americans: prevalence and association with the severity of insulin resistance. (bmj.com)
- Preliminary indication of a high prevalence of polycystic ovary syndrome in indigenous Australian women. (bmj.com)
- Evidence for pancreatic beta-cell dysfunction in brothers of women with polycystic ovary syndrome. (bmj.com)
- 2016). Androgen responses to adrenocorticotropic hormone infusion among individual women with polycystic ovary syndrome. (cookandersenlaboratory.com)
- 2016). 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome. (cookandersenlaboratory.com)
- 2014). Lack of Serum Anti-Mullerian Hormone Responses Following Recombinant Human Chorionic Gonadotropin Stimulation in Women with Polycystic Ovary Syndrome. (cookandersenlaboratory.com)
- 2014). Relationship between 17-hydroxyprogesterone Responses to Human Chorionic Gonadotropin and Markers of Ovarian Follicle Morphology in Women with Polycystic Ovary Syndrome. (cookandersenlaboratory.com)
- 2014). Decreased inhibin B Responses Following Intravenous hCG Administration are Decreased in Normal Women but not in Women with Polycystic Ovary Syndrome. (cookandersenlaboratory.com)
Prevalence4
- Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. (bmj.com)
- Robertson MM . The prevalence and epidemiology of Gilles de la Tourette syndrome. (nature.com)
- Though the prevalence of Angelman syndrome is not precisely known, there are some estimates. (medicalmarijuana.com)
- Prevalence of Metabolic Syndrome Risk Factors in High School. (lww.com)
Brugada Syndrome3
- This test may aid in the postmortem diagnosis of long QT or Brugada syndrome. (mayocliniclabs.com)
- If EDTA whole blood is available, order 1 of the following: BRGGP / Brugada Syndrome Multi-Gene Panel, Blood or LQTGP / Long QT Syndrome Multi-Gene Panel, Blood. (mayocliniclabs.com)
- An autoantibody profile detects Brugada syndrome and identifies abnormally expressed myocardial proteins. (ukm.de)
KCNJ21
- Es consecuencia de mutaciones del gen KCNJ2 que codifica una proteína del canal (CANALES DEL POTASIO RECTIFICADORES DE ENTRADA) que regula el potencial de membrana en reposo. (bvsalud.org)
Mutations6
- These syndromes have been associated with mutations of 13 genes that are involved in the development of sodium and potassium channels and their regulatory subunits. (ivami.com)
- Despite being found in many genes mutations, the etiology of the syndrome remains unknown in 30 to 40% of cases. (ivami.com)
- The long QT syndrome type 1, associated with mutations in the KCNQ1 (Potassium inwardly-rectifying cannel, subfamily J, member 2) gene, located on the short arm of chromosome 11 (11p15.5). (ivami.com)
- QT syndrome type 2 long, associated with mutations in the KCNH2 gene (voltage-gated potassium cannel subfamily H, member 2), located on the long arm of chromosome 7 (7q36.1). (ivami.com)
- Mutations in them increase the activity of the channels, which modifies the flow of potassium ions into cells, leading to impaired cardiac contractility, causing abnormal heart rhythm characteristic of short QT syndrome and syndrome long QT type 2. (ivami.com)
- 9 ] Genes other than BRCA may also be involved in predisposition to male breast cancer, including mutations in the PTEN tumor suppressor gene, TP53 mutations (Li-Fraumeni syndrome), PALB2 mutations, and mismatch repair mutations associated with hereditary nonpolyposis colorectal cancer (Lynch syndrome). (cancer.gov)
OMIM1
- Skeletal dysplasia includes proximal interphalangeal joint fusion syndrome type A (OMIM 185800), multiple osseous junction syndrome type 1 OMIM 186500, tarsal and carpal joint fusion syndrome (OMIM 186570), short finger syndrome type B2 (OMIM 611377), and stapes stiffness with a wide thumb and toes (OMIM 184460)[ 8 ]. (researchsquare.com)
Genetics1
- The genetics of Tourette syndrome: a review. (nature.com)
Diseases7
- YNS is more frequently isolated but may be associated in rare cases with autoimmune diseases, other clinical manifestations implicating lymphatic functions or cancer and, hence, is also considered a paraneoplastic syndrome. (biomedcentral.com)
- In this review, we analyze the available literature on this subject, describing clinical characteristics, explorations, associated diseases and management of this rare syndrome. (biomedcentral.com)
- It is a syndrome - not a disease - that is associated with conditions as different as diseases implicating the lymphatic system, autoimmune diseases or cancers. (biomedcentral.com)
- Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. (nature.com)
- Irritable bowel syndrome and symptomatic diverticular disease - different diseases? (ku.dk)
- Additionally, while several studies have examined the epidemiology of specific diseases and syndromes, they have not been generally compared within the same population to allow for determination of the relative contributions of different infectious diseases to the overall healthcare burden. (health.gov.au)
- Diseases associated with hyperestrogenism, such as cirrhosis or Klinefelter syndrome. (cancer.gov)
Gravholt CH2
- Klein KO , Rosenfield RL , Santen RJ , Gawlik AM , Backeljauw PF , Gravholt CH , Sas TCJ , Mauras N . Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations. (wjgnet.com)
- Viuff MH , Just J , Brun S , Dam TV , Hansen M , Melgaard L , Hougaard DM , Lappe M , Gravholt CH . Women With Turner Syndrome Are Both Estrogen and Androgen Deficient: The Impact of Hormone Replacement Therapy. (wjgnet.com)
Disease6
- Patient complaints probably relate to end-organ injuries of Andersen disease, such as hepatic failure, cardiomyopathy, or muscular atrophy. (medscape.com)
- Bondy CA. Heart disease in Turner syndrome. (bmj.com)
- Aortic valve disease in Turner syndrome. (bmj.com)
- Individuals with Down syndrome (DS) have a genetic predisposition for amyloid-β (Aβ) overproduction and earlier onset of Aβ deposits compared to patients with sporadic late-onset Alzheimer's disease (AD). (frontiersin.org)
- J Strength Cond Res 27(7): 1749-1757, 2013-Metabolic syndrome (MetSyn) is a clustering of metabolic and cardiovascular disease risk factors. (lww.com)
- Metabolic syndrome (MetSyn) is a clustering of risk factors identifying individuals at an increased risk for metabolic and cardiovascular disease ( 14 ). (lww.com)
Genes3
- Some cases of SIDS are due to long QT syndrome and other cardiac ion channelopathies, and the genes most commonly implicated are SCN5A and KCNH2 . (bmj.com)
- The sister syndrome, Prader-Willi syndrome, is caused by a similar loss of paternally inherited genes and maternal imprinting. (medicalmarijuana.com)
- However, in the region of the chromosome that is critical for Angelman syndrome, the maternal and paternal contribution express certain genes very differently. (medicalmarijuana.com)
Autosomal dominant2
- C mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis. (researchsquare.com)
- Lynch Syndrome (LS) is an autosomal dominant cancer syndrome associated with a very high risk of both CRC and endometrial cancer (EC) [ 10 ]. (cdc.gov)
20162
- Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. (bmj.com)
- Mora-Castilla S, To C, Vaezeslami S, Morey R, Srinivasan S, Dumdie JN, Cook-Andersen H , Jenkins J, and Laurent L. (2016) Miniaturization Technologies for Efficient Single-cell Library Preparations and Next-Generation Sequencing. (cookandersenlaboratory.com)
Skeletal1
- Kawai M , Hasegawa Y. Skeletal Characteristics of Children and Adolescents with Turner Syndrome. (wjgnet.com)
Genetic3
- Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. (medicalmarijuana.com)
- Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. (ukm.de)
- One of the most prominent Tier 1 public health genomic applications is testing for Lynch Syndrome (LS) in tumor specimens from patients newly diagnosed with colorectal cancer (CRC) using preliminary testing using either immunohistochemistry (IHC) or microsatellite instability (MSI), followed by genetic sequencing and deletion testing to identify a mutation on an MMR gene [ 7 - 9 ]. (cdc.gov)
Channelopathies1
- These syndromes correspond to cardiac ion channelopathies characterized by congenital abnormalities of cardiac repolarization causing syncope and sudden death in 50% of untreated patients 10 years of evolution. (ivami.com)
Angelman Syndrome5
- Later the name was changed to Angelman syndrome. (medicalmarijuana.com)
- Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. (medicalmarijuana.com)
- If the maternal contribution is lost or mutated, the result is Angelman syndrome. (medicalmarijuana.com)
- It should be noted that the methylation test that is performed for Angelman syndrome (a defect in UBE3A) is actually looking for the gene's neighbour SNRPN (which has the opposite pattern of methylation). (medicalmarijuana.com)
- Angelman syndrome can also be the result of mutation of a single gene. (medicalmarijuana.com)
Abstract1
- Abstract Background: Asthma is a heterogeneous syndrome substantiating the urgent requirement for endotype-specific biomarkers. (nordicbioscience.com)
Gene2
Sudden6
- Objective To describe experience of long QT (LQT) molecular autopsy in sudden infant death syndrome (SIDS). (bmj.com)
- Sudden infant death syndrome (SIDS) accounts for 8% of postneonatal deaths and 0.5 deaths per 1000 live births in the USA 1 and 13% and 0.7 per 1000, respectively, in New Zealand. (bmj.com)
- Sudden death is the first symptom in 10%-15% of long QT syndrome patients. (blueprintgenetics.com)
- This syndrome by a history of episodes of syncope and the presence of an abnormal duration of QT interval on the ECG is characterized, sometimes resulting in sudden death due to ventricular paroxysmal arrhythmia. (ivami.com)
- Flahault A, Messiah A, Jougla E, Bouvet E, Perin J, Hatton F. Sudden infant death syndrome and diphtheria/tetanus toxoid/pertussis/poliomyelitis immunisation. (inserm.fr)
- The health effects of SHS in children include asthma and an increased risk for low birthweight, sudden infant death syndrome, preterm delivery, several childhood cancers, respiratory problems, and ear infections ( 5 ). (cdc.gov)
Disorder2
- CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. (nature.com)
- Irritable bowel syndrome (IBS) is a functional bowel disorder characterised by abdominal pain or discomfort with disordered defecation. (cambridge.org)
Symptoms1
- Most patients experience muscle symptoms such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly. (medscape.com)
Clinical3
- Among the three clinical YNS characteristics (yellow nail syndrome, respiratory tract involvement, lymphedema), only two are required to diagnose YNS but it is difficult to call the entity YNS without nail abnormality [ 4 ]. (biomedcentral.com)
- European clinical guidelines for Tourette syndrome and other tic disorders-version 2.0. (nature.com)
- Is ideal for patients with a clinical suspicion or diagnosis of long QT syndrome. (blueprintgenetics.com)
Irritable1
- 1) Tarpila S et al.Efficacy of ground flaxseed on constipation in patients with irritable bowel syndrome. (psyllium.fr)
Long QT type1
- First episode of ventricular fibrillation in an 84-year-old man with long-QT type 2 syndrome: A case report. (ncbiobank.org)
Acute coronary1
- PMID- 21738508 OWN - NLM STAT- PubMed-not-MEDLINE DA - 20110708 DCOM- 20110714 LR - 20110801 IS - 1664-042X (Electronic) IS - 1664-042X (Linking) VI - 2 DP - 2011 TI - A single intracoronary injection of midkine reduces ischemia/reperfusion injury in Swine hearts: a novel therapeutic approach for acute coronary syndrome. (leydesdorff.net)
Colorectal cancer1
- This review compares recently published cost-effectiveness analyses of testing strategies for Lynch Syndrome (LS) in tumors from patients newly diagnosed with colorectal cancer (CRC) for either all adult patients or patients up to age 70 along with cascade testing of relatives of probands. (cdc.gov)
Type3
- 7 8 S. stercoralis hyperinfection syndrome may be seen in patients with human T-cell lymphotropic virus type 1 or HIV/AIDS, patients suffering from malignant neoplasm, individuals with alcohol abuse, transplant patients and in patients treated with corticosteroids. (bmj.com)
- An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. (ukm.de)
- 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)
Diagnosis of long QT syndr1
- Investigators have used a cut off value of QTc >0.46 seconds as well as 0.44 seconds for making the diagnosis of long QT syndrome. (annalspc.com)
Toxic syndrome2
- 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)
- 1994). Request for Assistance in Preventing Organic Dust Toxic Syndrome . (cdc.gov)
Childhood1
- 7. McCarthy K, Bondy CA. Turner syndrome in childhood and adolescence. (bmj.com)