Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.

Biallelic variants in PPA2 gene cause a rare but lethal mitochondrial disorder. We describe the first four cases reported in Spain of PPA2 disease in two unrelated families. We have conducted a revision of the clinical history, necropsies, and postmortem genetic testing from probands, and clinical evaluation, genetic testing and blood transcript analysis in family members.

Complications and inappropriate shocks in pediatric patients receiving a subcutaneous implantable cardioverter defibrilator.

Introduction And Objectives: There is limited evidence regarding the use of subcutaneous implantable cardioverter-defibrillators (S-ICD) in pediatric patients. The aim of this study was to determine the incidence of complications in these patients at our center, according to the type of ICD and patient size.

Methods: We included all patients aged<18 years who received an S-ICD since 2016 at our center.

Comparing COVID-19 and influenza: Epidemiology, clinical characteristics, outcomes and mortality in the ICU.

Rationale: Several authors have compared COVID-19 infection with influenza in the ICU.

Objective: This study aimed to compare the baseline clinical profiles, care procedures, and mortality outcomes of patients admitted to the intensive care unit, categorized by infection status (Influenza vs. COVID-19).

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with particular emphasis on patients with pathogenic variants in genes other than , and its potential impact on rGH treatment indication.

Patient survey superior to EMR extraction for eliciting positive symptoms at COVID-19 illness onset.

Context: COVID-19 has ravaged nations around the world, with New York City (NYC) and the NYC suburbs being particular epicenters of COVID-19 infection. Suffolk County, NY, has reported over 200,000 cases and 3,000 deaths to date. Most initial COVID-19 research concerned hospitalized patients.

Meiotic resetting of the cellular Sod1 pool is driven by protein aggregation, degradation, and transient LUTI-mediated repression.

Gametogenesis requires packaging of the cellular components needed for the next generation. In budding yeast, this process includes degradation of many mitotically stable proteins, followed by their resynthesis. Here, we show that one such case-Superoxide dismutase 1 (Sod1), a protein that commonly aggregates in human ALS patients-is regulated by an integrated set of events, beginning with the formation of pre-meiotic Sod1 aggregates.

The Great Mimicker: Cutaneous Metastatic Melanoma Presenting as a Non-resolving Pleural Effusion.

Although melanoma starts as a local disease, it can metastasize to other sites of the body including the lung, brain, liver, and intestines. However, pleural involvement is a rare presentation. Here, we present a case of a 57-year-old man with a history of stage IIA cutaneous melanoma, that relapsed 3 years after cutaneous resection, presenting with a non-resolving pleural effusion.

Genetics, Morphometrics and Health Characterization of Green Turtle Foraging Grounds in Mainland and Insular Chile.

Two divergent genetic lineages have been described for the endangered green turtle in the Pacific Ocean, occurring sympatrically in some foraging grounds. Chile has seven known green turtle foraging grounds, hosting mainly juveniles of different lineages. Unfortunately, anthropic factors have led to the decline or disappearance of most foraging aggregations.

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort.

Perioperative management of non-deferrable oncologic surgeries during COVID-19 pandemic in Madrid, Spain. Is it safe?

Introduction: Surgical treatment during Covid-19 pandemic is controversial. Currently, most clinical guidelines advise to defer surgical patients during the Covid-19 pandemic, although the supporting data is sparse. We assumed that a Covid-19-free hospital, on the back of strong isolation measures and targeted screening, could reduce complications and enable us to continue treating high-risk patients.

Anti-SARS-CoV-2 spike protein and neutralizing antibodies at 1 and 3 months after three doses of SARS-CoV-2 vaccine in a large cohort of solid organ transplant patients.

The immunogenicity of the severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) vaccine was improved by the administration of a third dose. The aim of our retrospective study was to assess the evolution of binding and neutralizing antibody concentration until 3 months after the third dose in a large cohort of solid organ transplant (SOT) patients (n = 872). At 1 month after the third dose, anti-SARS-CoV-2 antibodies were detected by means of enzyme-linked immunosorbent assay tests in 578 patients (66.

Heparin-free regional anticoagulation of haemodialysis filters with calcium-free dialysate: is citrate mandatory?

Background: There is an unmet need to develop safe and successful heparin-free regional anticoagulation modalities in haemodialysed patients at risk of bleeding. Whether the addition of citrate as a prefilter injection or in the dialysate itself is required to reach anticoagulation objectives when calcium-free dialysate is used as regional anticoagulation remains unclear.

Methods: In this monocentric retrospective study, we report our experience of 908 dialysis sessions performed with a calcium-free citrate-containing dialysate and calcium reinjection according to the ionic dialysance, without additional heparin.

Respiratory disturbances and high risk of sudden death in the neonatal connexin-36 knockout mouse.

Neural circuits at the brainstem involved in the central generation of the motor patterns of respiration and cardiorespiratory chemoreflexes organize as cell assemblies connected by chemical and electrical synapses. However, the role played by the electrical connectivity mainly mediated by connexin36 (Cx36), which expression reaches peak value during the postnatal period, is still unknown. To address this issue, we analyzed here the respiratory phenotype of a mouse strain devoid constitutively of Cx36 at P14.

A Neonatal ABO non-compatible heart transplant from a circulatory-determined death donor using NRP/Cold storage.

Background: Donation after Circulatory death is gaining worldwide acceptance. Most protocols regard their first cases to be performed with donor and recipient in the same institution. Few records of children or distant procurement have been published.

Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males.

Objective: One of the challenges in hypertrophic cardiomyopathy (HCM) is to determine the pathogenicity of genetic variants and to establish genotype/phenotype correlations. This study aimed to: (1) demonstrate that c.2149-1G>A is a founder pathogenic variant, (2) describe the phenotype and clinical characteristics of mutation carriers and (3) compare these patients with those with the most frequent pathogenic HCM variants: p.

Perioperative management of non-deferrable oncologic surgeries during COVID-19 pandemic in Madrid, Spain. Is it safe?

Introduction: Surgical treatment during COVID-19 pandemic is controversial. Currently, most clinical guidelines advise to defer surgical patients during the COVID-19 pandemic, although the supporting data is sparse. We assumed that a COVID-19-free hospital, on the back of strong isolation measures and targeted screening, could reduce complications and enable us to continue treating high-risk patients.

Hybrid Procedures. Opening Doors for Surgeon and Cardiologist Close Collaboration.

Collaboration between cardiac surgeons and cardiologists can offer interventions that each specialist may not be able to offer on their own. This type of collaboration has been demonstrated with the hybrid Stage I in patients with hypoplastic heart syndrome. Since that time, a hybrid approach to cardiac interventions has been expanded to an incredible variety of potential indications.

Polyphenol intake and cardiovascular risk in the PREDIMED-Plus trial. A comparison of different risk equations.

Introduction And Objectives: Quantification of cardiovascular risk has been based on scores such as Framingham, Framingham-REGICOR, SCORE or Life's Simple 7 (LS7). In vitro, animal, and randomized clinical studies have shown that polyphenols may provide benefits to the vascular system and reduce the inflammatory response. However, some clinical-epidemiological studies have yielded inconsistent results.

[Perioperative management of non-deferrable oncologic surgeries during COVID-19 pandemic in Madrid, Spain. Is it safe?].

Introduction: Surgical treatment during COVID-19 pandemic is controversial. Currently, most clinical guidelines advise to defer surgical patients during the COVID-19 pandemic, although the supporting data is sparse. We assumed that a COVID-19-free hospital, on the back of strong isolation measures and targeted screening, could reduce complications and enable us to continue treating high-risk patients.

The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy.

Aims: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events.

Bilateral Reduction Mammaplasty Facilitates Subsequent Weight Loss in Obese Patients (BMI ≥30).

Background: One of the most commonly discussed benefits of macromastia treatment surgery, bilateral reduction mammaplasty, is the potential for subsequent weight loss. There is limited research examining weight change after reduction mammaplasty and a definitive relationship remains to be established. Our study aims to investigate this relationship and to identify potential preoperative and operative factors associated with postoperative changes in weight.