Variable clinical expression of a novel FLNC truncating variant in a large family.

BACKGROUND: Variants in Filamin-C (FLNC) have been associated with various hereditary cardiomyopathies. Recent literature reports a prevalence of sudden cardiac death (SCD) of 13-25% among carriers of truncating-variants, with mean age of 42±15 years for first SCD event. This study reports two familial cases of SCD and the results of cascade screening of their large family. METHODS: Molecular-autopsy of the SCD victims revealed a novel truncating-variant in the FLNC gene (chr 7:128496880 [hg19]; NM_001458.5; c.7467_7474del; p.(Ser2490fs)). We screened thirty-two family members following genetic counseling, and variant carriers underwent a comprehensive workup followed by consultation with a cardiologist with expertise in the genetics of cardiac diseases. RESULTS: Seventeen variant carriers were identified: ages between 9 and 85 (mean 47±26). Fifteen underwent clinical evaluation. To date, none of the identified carriers has had major adverse events. In evaluated patients, ECG showed right-axis deviation in 60% (n = 9). Holter recorded frequent premature ventricular contractions (PVCs) (991±2030 per 24 h) in 33% (n = 5) with 4 patients having polymorphic PVC morphology. Three carriers had echocardiographic evidence of mild left-ventricular (LV) systolic dysfunction and another with mild LV dilatation. Cardiac magnetic-resonance (CMR) exhibited late­gadolinium-enhancement in 10 out of 11 exams, mainly in the mid-myocardium and sub-epicardium, frequently involving the septum and the inferior-lateral wall. CONCLUSION: This large FLNC truncating variant carrier family exhibits high cardiomyopathy penetrance, best diagnosed by CMR, with variable clinical expressions. These findings present a challenge in SCD prevention management and underscoring the imperative for better risk stratification measures.

Severity of a Vipera palaestinae envenomation objective findings associated with a complicated hospitalization course following a Vipera palaestinae bite.

The most common snake in Israel, responsible for most snakebites is Vipera palaestinae (VP). Envenomation signs and symptoms vary from local manifestations to systemic reactions that may end with death. Antivenom treatment, given to high-risk patients, reduces complications and mortality but carries risks. As of now, there is no standardized protocol for adults bitten by VP based on objective clinical and laboratory findings. We conducted A retrospective analysis of 159 patients admitted to two large tertiary care institutions in the center (Hadassah University Medical Center) and south (Soroka University Medical Center) of Israel with Vipera palaestinae bites during 1990-2017. Epidemiological and clinical data were extracted, and the patients were divided into two groups based on hospitalization time (over or under 48 h). 159 patients were included in this study. The average hospitalization time was 66.1 h, with 49.7% of patients admitted over 48 h. The main factors that statistically correlated with a longer hospitalization time were: Male gender, lower extremity bite, platelets lower than 150 K at presentation, leukocyte count of over 10 K at presentation and elevated D-Dimer levels. This study provides factors which are associated with a severe VP envenomation. These clinical or laboratory findings (along with accompanying clinical symptoms) are associated with a higher risk of a prolonged hospitalization with more complications and may require a more intensive treatment and monitoring.

The impact of short hospital stay on prognosis after acute myocardial infarction: An analysis from the ACSIS database.

BACKGROUND: Current evidence regarding the optimal length of hospital stay (LOS) following myocardial infarction (MI) is limited. This study aimed to examine LOS policy for MI patients and to assess the safety of early discharge. METHODS: A prospective observational study that included patients with STEMI and NSTEMI enrolled in the Acute Coronary Syndrome Israeli Survey (ACSIS) during the years 2000-2016. Patients were divided into three subgroups according to their LOS: <3 days (short-LOS), 3-6 days (intermediate-LOS) and >6 days (long-LOS). We compared baseline characteristics, management strategies and clinical outcomes at 30 days and 1 year in these groups. RESULTS: Ten thousand four hundred and fifty eight patients were enrolled in the study. The LOS of MI patients gradually decreased over time. Short-LOS and intermediate-LOS patients had similar clinical characteristics while patients in the long-LOS group were older with more co-morbidity. There was no difference in the clinical outcomes, including re-MI, arrhythmias, 30 days MACE, and 30 days mortality between the short-LOS and intermediate-LOS groups. However, the rate of re-hospitalizations was higher in the short-LOS group (20.9% vs. 17.8%, p = .004) without evidence of increased cardiovascular events. In multivariate analysis, the LOS did not predict either 30 days mortality (HR: 1.3; CI:0.45-5.48), nor MACE at 30 days (HR: 1.1; CI:0.79-1.56). CONCLUSION: Our study suggests that an early discharge strategy of up to 3 days from admission is safe for low and intermediate-risk patients after both STEMI and NSTEMI. Nevertheless, this strategy is associated with an increased risk of potential avoidable readmission and there might be psychological and social factors that may warrant a longer stay.

Fatal Mesenteric Ischemia Induced by Synthetic Cannabinoids: A Case Report and Literature Review.

Worldwide use of synthetic cannabinoids (SCs) is rapidly increasing, in part due to the generation of numerous new compounds, sidestepping legal restrictions. Their detection using standard toxicology panels is difficult, due to their vast heterogeneity and lack of structural resemblance to cannabinoids. Sympathetic overactivity and arterial spasm play a role in some of the life-threatening reactions to SCs, such as coronary or cerebral vasoconstriction. Here we report a patient with repeated consumption of SCs that led to mesenteric ischemia and death. A 29-year-old man was frequently evaluated in the Emergency Medicine Department for recurrent transient crampy abdominal pain, associated with the use of the SCs colloquially known as "Mr. Nice Guy." He was finally hospitalized with a protracted attack, associated with diarrhea and leukocytosis. Initial evaluation including computed tomography was unremarkable. Diarrhea and leukocytosis gradually resolved, but bouts of hypertension and abdominal pain occurred in association with repeated consumption of the SCs. On the fifth hospital day, the patient developed abrupt abdominal pain, associated with profound shock and signs of peritoneal irritation and succumbed within an hour. Postmortem CT scan was consistent with intestinal perforation most probably due to a nonobstructive mesenteric infarction. There was no evidence of a single vessel infarction.

Transient induced gamma-band response in EEG as a manifestation of miniature saccades.

The induced gamma-band EEG response (iGBR) recorded on the scalp is widely assumed to reflect synchronous neural oscillation associated with object representation, attention, memory, and consciousness. The most commonly reported EEG iGBR is a broadband transient increase in power at the gamma range approximately 200-300 ms following stimulus onset. A conspicuous feature of this iGBR is the trial-to-trial poststimulus latency variability, which has been insufficiently addressed. Here, we show, using single-trial analysis of concomitant EEG and eye tracking, that this iGBR is tightly time locked to the onset of involuntary miniature eye movements and reflects a saccadic "spike potential." The time course of the iGBR is related to an increase in the rate of saccades following a period of poststimulus saccadic inhibition. Thus, whereas neuronal gamma-band oscillations were shown conclusively with other methods, the broadband transient iGBR recorded by scalp EEG reflects properties of miniature saccade dynamics rather than neuronal oscillations.