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Distant relatedness in biobanks harnessed to identify undiagnosed genetic disease

A new method using shared segments within the genome has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms and sudden cardiac death. The approach was developed by researchers at Vanderbilt University Medical Center and applied to a DNA biobank to detect carriers of rare disease-ca...

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Estrogen possible risk factor in disturbed heart rhythm

Researchers from Linköping University found that estrogen impairs the function of a specific ion channel, Kv7.1/KCNE1, which is associated with long QT syndrome and arrhythmia. This suggests that estrogen may be a risk factor for certain types of heart rhythm disturbances in women with hereditary mutations.

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New screening test for those at risk of sudden cardiac arrest

Researchers have created a new electrical test to screen hundreds of gene mutations, pinpointing harmful mutations that cause inherited heart disorders and sudden death. The breakthrough can identify genetic variants associated with neurological conditions, muscle and kidney diseases.

Getting to the heart of bedwetting

Researchers recommend expanding diagnostic workup to include cardiac arrhythmias for unexplained enuresis in adults and children. An electrocardiogram is a cost-effective and non-invasive test that can detect potentially fatal diseases.

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Apple iPhone 17 Pro delivers top performance and advanced cameras for field documentation, data collection, and secure research communications.

Digital silver lining seen in failed COVID-19 drug trial

A clinical trial found that remote monitoring of medication's potential arrhythmic side effects is feasible and safe for patients with mild COVID-19. The study used handheld devices to transmit digital ECGs, suggesting a potential expansion of clinical research to broader populations and reducing participants' burdens.

Mayo Clinic research yields breakthrough in mobile determination of QT prolongation

Researchers at Mayo Clinic have developed an AI-powered mobile EKG device that can rapidly and accurately determine a patient's QTc, identifying those at risk of sudden cardiac death from congenital long QT syndrome or drug-induced QT prolongation. The device achieved high sensitivity and specificity in detecting clinically meaningful ...

First hybrid gene therapy shows early promise in treating long QT syndrome

Researchers at Mayo Clinic have developed the first hybrid gene therapy for treating long QT syndrome, a genetic heart rhythm condition. The therapy targets the KCNQ1 gene and has shown potential therapeutic efficacy in two in vitro model systems using beating heart cells reengineered from patient blood samples.

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Edging closer to personalized medicine for patients with irregular heartbeat

A team of researchers at Washington University in St. Louis has made a significant step towards precision medicine for patients with Long QT Syndrome Type 3, a life-threatening form of irregular heartbeat. By analyzing genetic variation and the nanoscale interaction of a commonly used drug treatment, they determined which patients woul...

Caution: Energy drinks put individuals with genetic heart condition at risk

A new study published in the International Journal of Cardiology has found that energy drinks can trigger serious cardiac events, including arrhythmias and cardiac arrest, in individuals with congenital long QT syndrome. The researchers warn young patients with this genetic condition to exercise caution when consuming energy drinks.

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Blackouts and near drownings may signal sudden death risk

Researchers found nearly four in five patients with a specific mutation carried out blackouts, yet only 26% received correct diagnosis and treatment. The study highlights the need for proper medical attention if symptoms occur, as delayed diagnosis can be fatal.

Heart's inner mechanisms to be studied with NIH grant

The grant will allow Cui to analyze mechanisms underlying potassium ion channel properties and develop targeted treatments for cardiac arrhythmia. He aims to understand a novel mechanism behind Long QT syndrome, which can be fatal.

Grant awarded for device to detect newborn heart problems

A new ECG device, QTScreen, has the potential to identify infants at risk of long QT syndrome, a genetic heart condition that can be treated with medication. The device will be tested on 4,000 babies in Southern California and is designed to be easy to use for parents.

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Device may help doctors diagnose lethal heart rhythm in womb

A new technology has been developed to diagnose and possibly treat a deadly heart condition in unborn babies. The magnetic EKG, or magnetocardiogram, was used to diagnose long QT syndrome in fetuses with 89% accuracy, identifying those at risk of life-threatening arrhythmias.

Genetic variants of heart disorder discovered in some cases of stillbirth

Researchers identified genetic variants associated with long QT syndrome in a small number of cases of intrauterine fetal death, including stillbirths. The study found that these variants were more common in late miscarriages and stillbirths than expected, suggesting a potential link between LQTS and intrauterine fetal deaths.

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Rhode Island Hospital studies uncover keys in sudden cardiac death

Studies using a genetic animal model reveal conditions triggering arrhythmia in Long QT Syndrome patients and the protective effect of progesterone on SCD incidence. Researchers also find a direct link between estrogen and pro-arrhythmic effects, with progesterone reducing triggers for polymorphic ventricular tachycardia.

Standing up for athletes at risk

Tel Aviv University's Dr. Sami Viskin has developed a new test to detect 'sudden death syndrome' in young athletes, which can be done at the patient's bedside using an electrocardiogram (ECG). The test detects a measurable difference in heart rate called the QT interval, which can help doctors identify patients at risk for sudden death.

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Apple Watch Series 11 (GPS, 46mm)

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Effects of anesthesia on the heart

Researchers created a first-ever genetic animal model to study anesthetic agents' effects on individuals genetically predisposed to arrhythmia and sudden cardiac death. The study found that some anesthetics trigger arrhythmias, particularly in models with long QT syndrome.

Study offers novel insight into cardiac arrhythmias, sudden cardiac death

Researchers developed a genetic model of LQTS that mimics human arrhythmia, revealing underlying mechanisms and potential therapeutic targets. The study could lead to the development of new treatments for fatal arrhythmias, particularly in pre-menopausal women who are more sensitive to certain medications.

JCI online early table of contents: May 8, 2008

Researchers found that slow fetal growth is linked to an increased risk of developing type 2 diabetes in adulthood. They also identified a new gene mutation associated with sudden cardiac death in humans. The study used rat models and human tissue samples to understand the mechanisms behind these diseases.

Angina drug potentially useful against heart rhythm disorders

Researchers found that ranolazine shortens the QT interval by about 5 percent and improves myocardial relaxation in patients with LQT3 mutation, providing a potential treatment for two conditions. The drug also showed benefits in improving left ventricular relaxation and increasing mitral E-wave velocity.

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Mayo researchers discover overdiagnosis of long QT heart syndrome

A recent study by Mayo researchers found that about 40% of patients referred for a second opinion on long QT syndrome (LQTS) did not show sufficient evidence to merit the diagnosis. The study highlights the challenge in diagnosing LQTS, which can be lethal if not diagnosed correctly, and emphasizes the need for cautious evaluation by e...

Genetic 'missing link' sheds light on sudden cardiac death

Researchers identify Caveolin-3 gene as key to understanding electrical imbalance in heart rhythm disorder, long QT syndrome. The mutation of this gene can trigger arrhythmia and increase risk of sudden cardiac death, highlighting the need for new treatment targets.

JAMA study provides clues to cause of sudden cardiac death in teens

A new study by the University of Rochester Medical Center found that genetic defects, particularly those related to Long QT Syndrome (LQTS), are significant risk factors for sudden cardiac death in teenagers. The study also identified changes in puberty among teens with LQTS as a predictor of life-threatening events.

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Routine ECGs for newborns would identify life-threatening heart condition

A recent study published in the European Heart Journal found that routine ECG screening for newborns can identify life-threatening genetic conditions like long QT syndrome, which can be prevented with medication. The cost-effectiveness analysis suggests that this program could save up to 27 lives per year in Italy.

News tips for Sunday, November 7, 2004

A study of 43 families of sudden unexplained death victims found an inherited disease in 17 cases, while another pilot study showed yoga and meditation improved endothelial function. Strong social support was linked to lower blood pressure, while adherence to guidelines for angioplasty procedures led to better outcomes.

New cardiac arrhythmia syndrome identified

An international team has defined a previously undescribed inherited cardiac arrhythmia syndrome caused by mutations in the ankyrin-B gene. The syndrome, distinct from Long QT Syndrome, is characterized by abnormal heartbeats and increased risk of sudden death, particularly among young people.

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Surgery cuts cardiac arrests among those with rare heart disorder

A 40-minute surgical procedure called left cardiac sympathetic denervation (LCSD) reduces the risk of cardiac arrest and fainting episodes in people with long QT syndrome, a rare heart disorder. The study found that LCSD surgery reduced cardiac events by 91 percent compared to pre-surgery rates.

Mutation causes specific arrhythmia and sudden cardiac death

A study published in Nature reveals a specific gene mutation causing inherited Long QT Syndrome, leading to fatal cardiac arrhythmias and sudden death. Researchers identified the E1425G mutation in ankyrin-B, a protein crucial for heart muscle cell function.

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Abnormalities in cellular anchoring protein cause fatal heart syndrome

Researchers have identified an abnormality in the anchoring protein ankyrin-B as the cause of long QT syndrome, a rare and often fatal heart condition. The study found that disruption of this protein causes ion channels to function improperly, leading to abnormal heartbeats and cardiac arrhythmia.

Heart gone haywire blamed in some sudden infant deaths

A study by the American Heart Association suggests that long Q-T syndrome, a heart condition, may be responsible for some sudden infant deaths. Researchers analyzed DNA from frozen heart tissue of unexplained infant deaths and found genetic anomalies in 32% of cases.

Mayo Clinic researchers find useful test for identifying patients

Mayo Clinic researchers have found a renewed use for a test to identify patients at risk of long QT syndrome, a genetic condition that can cause sudden death. The study used epinephrine infusion and electrocardiogram monitoring to detect a specific response in people with long QT syndrome 1, a subtype of the condition.

Obesity may exacerbate a heart disorder in African American females

Research study finds a positive association between obesity and long QTc, as well as an inverse association between physical activity and QTc duration in African American women. The study suggests that otherwise healthy individuals with obesity are at increased risk for acquiring Long QT Syndrome.

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