Andersen–Tawil syndrome (ATS) is a very rare orphan genetic multisystem channelopathy without structural heart disease (with rare exceptions). ATS type 1 is inherited in an autosomal dominant fashion and is caused by mutations in the KCNJ2 gene, which encodes the α subunit of the K+ channel protein Kir2.1 (in ≈ 50–60% of cases).
Pérez-Riera, Andrés Ricardo +8 more
openaire +4 more sources
The article discusses the historical features of the clinical formation of the diagnostic criteria of the Silverman-Andersen scale in the assessment of respiratory distress syndrome in preterm infants.
O. V. Zavyalov +3 more
doaj +1 more source
Dexamethasone Versus Placebo in Comatose Survivors of Out-of-Hospital Cardiac Arrest: Study Protocol for a Multicenter Randomized Comparison Within the Danish Out-of-Hospital Cardiac Arrest Trial (DANOHCA). [PDF]
ABSTRACT Background The inflammatory response to whole‐body ischemia, as seen in comatose survivors after out‐of‐hospital cardiac arrest (OHCA), is associated with increased morbidity and mortality. Early high‐dose dexamethasone may dampen the inflammatory response, which may diminish secondary brain damage and other organ injury and decrease mortality.
Andreasen JB +12 more
europepmc +2 more sources
The Danish Out-of-Hospital Cardiac Arrest Trial: A Statistical Analysis Plan. [PDF]
ABSTRACT Background Post‐cardiac arrest care for patients resuscitated from out‐of‐hospital cardiac arrest (OHCA) includes multiple pharmacological and physiological interventions, yet optimal strategies to reduce post‐cardiac arrest syndrome–related morbidity and mortality remain uncertain.
Mølstrøm S +11 more
europepmc +2 more sources
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pauline Le Tanno +13 more
doaj +1 more source
Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features.
Jisook Yim +6 more
doaj +1 more source
Every face tells a story-unravelling a case of bidirectional ventricular tachycardia
Bidirectional ventricular tachycardia is a rare form of tachycardia. We hereby report a case of bidirectional ventricular tachycardia in an 8-year-old boy wherein careful clinical exami-nation led to the diagnosis of Andersen Tawil syndrome.
Sakshi Sachdeva +2 more
doaj +1 more source
Prophylactic Olanzapine Versus Placebo in Comatose Survivors of Out-of-Hospital Cardiac Arrest: Protocol for a Multicenter Randomized Comparison Within the Danish Out-of-Hospital Cardiac Arrest (DANOHCA) Trial. [PDF]
ABSTRACT Background Delirium is a frequent complication in comatose Out‐of‐Hospital Cardiac Arrest (OHCA) survivors requiring postresuscitation intensive care and is associated with higher mortality and longer hospitalization. Despite this, there is no established pharmacologic strategy for delirium prevention in OHCA survivors.
Liebetrau B +12 more
europepmc +2 more sources
Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome
It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times during ...
Jing Yang +7 more
doaj +1 more source
The Exercise Test in Andersen Syndrome [PDF]
Andersen syndrome is a rare form of periodic paralysis (PP) associated with dysmorphic features and potentially fatal cardiac dysrhythmias. To date, no electrodiagnostic abnormalities have been reported that can be used to confirm the presence of PP in this condition.To determine if the exercise test could be used to confirm the diagnosis of PP in ...
J S, Katz +4 more
openaire +2 more sources

