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We report clinical and molecular analysis of an infant presenting with foetal bradycardia and clinical outcome of Jervell and Lange-Nielsen syndrome (JLNS).

Clinical, electrocardiogram (ECG), and echocardiographic data were collected from members in a three-generation family. Whole exomes were amplified and sequenced for proband. The identified variants were verified in the remaining members. The pathogenicity of candidate variants was predicted using multiple software programmes. A 28-year-old non-consanguineous Chinese woman at 23 weeks' gestation presenting with sustained foetal bradycardia of 100 b.p.m. Immunological disorders and infection were excluded. see more The infant was delivered at 37 weeks' gestation with 2700-g birthweight. QTc was prolonged in both ECG and Holter recording. Hearing tests confirmed bilateral sensorineural hearing loss. Genetic testing demonstrated that the infant carried a novel frameshift c.431delC (p.I145Sfs*92) and a novel nonsense c.1175G>A (p.W392X) compound variants of KCNQ1 inherited from mother and father, respectively, in autosomal recessive inheritance. Only relative II-5 carrying heterozygous KCNQ1-I145Sfs*92 variant had prolonged QTc, while the other carriers did not have prolonged QT, suggesting an autosomal dominant inheritance of LQT1 phenotype with incomplete penetrance in the family.

We report the novel frameshift KCNQ1-I145Sfs*92 and nonsense KCNQ1-W392X compound variants in autosomal recessive inheritance that caused JLNS presenting as sustained foetal bradycardia for the first time. Meanwhile, KCNQ1-I145Sfs*92 heterozygous variant demonstrated LQT1 phenotype in autosomal dominant inheritance with incomplete penetrance.
We report the novel frameshift KCNQ1-I145Sfs*92 and nonsense KCNQ1-W392X compound variants in autosomal recessive inheritance that caused JLNS presenting as sustained foetal bradycardia for the first time. Meanwhile, KCNQ1-I145Sfs*92 heterozygous variant demonstrated LQT1 phenotype in autosomal dominant inheritance with incomplete penetrance.
S100B, a well-known damage-associated molecular pattern protein is released acutely by central and peripheral nerves and upon concomitant denervation in pulmonary vein isolation (PVI). We aimed to investigate whether the ablation technique used for PVI impacts S100B release in patients with paroxysmal atrial fibrillation (AF).

The study population consisted of 73 consecutive patients (age 62.7 ± 10.9 years, 54.8% males) undergoing first-time PVI with either radiofrequency (RF; n = 30) or cryoballoon (CB; n = 43) for paroxysmal AF. S100B determined from venous plasma samples taken immediately before and after PVI increased from 33.5 ± 1.8 to 91.1 ± 5.3 pg/mL (P < 0.0001). S100B release in patients undergoing CB-PVI was 3.9 times higher compared to patients with RF-PVI (ΔS100B 21.1 ± 2.7 vs. 83.1 ± 5.2  pg/mL, P < 0.0001). During a mean follow-up of 314 ± 186 days, AF recurrences were observed in 18/71 (25.4%) patients (RF-PVI n = 9/28, CB-PVI n = 9/43). Univariate Cox regression analysis indicated that an increase in S100B was associated with higher freedom from AF in follow-up (hazard ratio per 10  pg/mL release of S100B 0.83; 95% confidence interval 0.72-0.95; P = 0.007).

The ablation technique used for PVI has an impact on the release of S100B, a well-established biomarker for neural damage.
The ablation technique used for PVI has an impact on the release of S100B, a well-established biomarker for neural damage.
Ablation of ventricular tachycardias (VTs) in patients with structural heart disease has been established in the past decades as an effective and safe treatment. However, the prognosis and long-term outcome remains poor.

We investigated 309 patients with ischaemic cardiomyopathy (ICM) and non-ischaemic cardiomyopathy (NICM) (186 ICM, 123 NICM; 271 males; mean age 64.1 ± 12 years; ejection fraction 34 ± 13%) after ≥1 VT ablations over a mean follow-up period of 34 ± 28 months. Electrical storm was the indication for 224 patients (73%), whereas 86 patients (28%) underwent epicardial as well as endocardial ablation. During follow-up, 132 patients (43%) experienced VT recurrence and 97 (31%) died. Ischaemic cardiomyopathy and NICM patients showed comparable results, regarding procedural endpoints, complications, VT recurrence and survival. The Cox-regression analysis for all-cause mortality revealed that the presence of higher left ventricular end-diastolic volume (LVEDV; P < 0.001), male gender (P = 0.018ncreased mortality. The PAINESD score accurately predicted the long-term outcome in our cohort.
Using ultrasound to measure optic nerve sheath diameter (ONSD) has been shown to be a useful modality to detect elevated intracranial pressure. However, manual assessment of ONSD by a human operator is cumbersome and prone to human errors. We aimed to develop and test an automated algorithm for ONSD measurement using ultrasound images and compare it to measurements performed by physicians.

Patients were recruited from the Neurological Intensive Care Unit. Ultrasound images of the optic nerve sheath from both eyes were obtained using an ultrasound unit with an ocular preset. Images were processed by two attending physicians to calculate ONSD manually. The images were processed as well using a novel computerized algorithm that automatically analyzes ultrasound images and calculates ONSD. Algorithm-measured ONSD was compared with manually measured ONSD using multiple statistical measures.

Forty-four patients with an average/Standard Deviation (SD) intracranial pressure of 14 (9.7) mmHg were recruited and thm calculates ONSD reliably and with high precision when compared to measurements obtained by expert physicians. The algorithm may have a role in computer-aided decision support systems in acute brain injury.This study aimed to pilot the feasibility, acceptability and effectiveness of three co-developed healthy food and beverage pricing interventions in a community retail setting. Aquatic and recreation centres in Victoria, Australia were recruited to co-develop and pilot pricing interventions within their onsite cafés, for 15 weeks from January 2019. A mixed method intervention evaluation was conducted. Interviews were conducted with food retail managers to understand the factors perceived to influence implementation, maintenance and effectiveness. Customer surveys assessed support for, and awareness of, interventions. Interrupted time series analysis estimated the impact of pricing interventions on food and beverage sales. Three centres each implemented a unique intervention (i) discounted healthy bundles ('healthy combination deals'), (ii) offering deals at specific times of the day ('healthy happy hours') and (iii) increasing the prices of selected unhealthy options and reducing the prices of selected healthier options ('everyday pricing changes').
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