Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry.

Effect of Canagliflozin on Total Cardiovascular Burden in Patients With Diabetes and Chronic Kidney Disease: A Post Hoc Analysis From the CREDENCE Trial.

Background The sodium-glucose cotransporter 2 inhibitor canagliflozin reduced the risk of first cardiovascular composite events in the CREDENCE (Canagliflozin and Renal Events in Diabetes With Established Nephropathy Clinical Evaluation) trial. In this post hoc analysis, we evaluated the effect of canagliflozin on total (first and recurrent) cardiovascular events. Methods and Results The CREDENCE trial compared canagliflozin or matching placebo in 4401 patients with type 2 diabetes, albuminuria, and estimated glomerular filtration rate of 30 to <90 mL/min per 1.

Pediatric genitourinary tumors: Distribution, demographics, and outcomes.

Importance: The diversity of pediatric genitourinary malignancies requires a timely resource detailing tumor characteristics and survival.

Objective: To determine the incidence, demographics, and outcomes of all pediatric genitourinary tumors within the United States.

Methods: A population-based search for patients diagnosed with genitourinary cancers under age 15 was performed using the National Cancer Institute's Surveillance, Epidemiology, and End Results 18 registry.

Prophylactic Mechanical Circulatory Support Use in Elective Percutaneous Coronary Intervention for Patients With Stable Coronary Artery Disease.

Background: Mechanical circulatory support (MCS) devices can be used in high-risk percutaneous coronary intervention (PCI). Our objective was to describe trends and outcomes of prophylactic MCS use in elective PCI for patients with stable coronary artery disease in the American College of Cardiology National Cardiovascular Data Registry's CathPCI registry.

Methods: Among 2 108 715 consecutive patients with stable coronary artery disease undergoing elective PCI in the CathPCI registry between 2009 and 2018, we examined patterns of prophylactic use of MCS.

SARS-CoV-2 infection and paediatric endocrine disorders: Risks and management considerations.

Background: Coronavirus-19 (COVID-19) is a disease caused by the SARS-CoV-2 virus, the seventh coronavirus identified as causing disease in humans. The SARS-CoV-2 virus has multiple potential pathophysiologic interconnections with endocrine systems, potentially causing disturbances in glucose metabolism, hypothalamic and pituitary function, adrenal function and mineral metabolism. A growing body of data is revealing both the effects of underlying endocrine disorders on COVID-19 disease outcome and the effects of the SARS-CoV-2 virus on endocrine systems.

Cost-Effectiveness of Coronary Artery Bypass Grafting and Percutaneous Coronary Intervention in Patients With Chronic Kidney Disease and Acute Coronary Syndromes in the US Medicare Program.

Background Coronary revascularization provides important long-term clinical benefits to patients with high-risk presentations of coronary artery disease, including those with chronic kidney disease. The cost-effectiveness of coronary interventions in this setting is not known. Methods and Results We developed a Markov cohort simulation model to assess the cost-effectiveness of percutaneous coronary intervention (PCI) and coronary artery bypass grafting (CABG) in patients with chronic kidney disease who were hospitalized with acute myocardial infarction or unstable angina.

Long-term safety and effectiveness of paroxysmal atrial fibrillation ablation using a porous tip contact force-sensing catheter from the SMART SF trial.

Purpose: The prospective, multicenter SMART SF trial demonstrated the acute safety and effectiveness of the 56-hole porous tip irrigated contact force (CF) catheter for drug-refractory paroxysmal atrial fibrillation (PAF) ablation with a low primary adverse event rate (2.5%), leading to FDA approval of the catheter. Here, we are reporting the long-term effectiveness and safety results that have not yet been reported.

Association of body mass index and osteoarthritis with healthcare expenditures and utilization.

Objective: Osteoarthritis is highly prevalent and, on aggregate, is one of the largest contributors to US spending on hospital-based health care. This study sought to examine body mass index (BMI)-related variation in the association of osteoarthritis with healthcare utilization and expenditures.

Methods: This is a retrospective study using administrative insurance claims linked to electronic health records.

Focal Ablation of Prostate Cancer.

The challenge to the urology community is to reduce the risks of screening and treatment by reducing the number of men undergoing unnecessary biopsy and whole-gland curative treatment of low-risk disease. There is compelling evidence that focal ablation of prostate cancer is truly minimally invasive and offers major functional advantages over whole-gland treatment.

A companion to the preclinical common data elements for physiologic data in rodent epilepsy models. A report of the TASK3 Physiology Working Group of the ILAE/AES Joint Translational Task Force.

The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force created the TASK3 working groups to create for various aspects of preclinical epilepsy research studies, which could help improve standardization of experimental designs

Novel bandlike signal abnormality suggestive of heterotopia in patient with a frameshift mutation.

Malformations of cortical development are associated with epilepsy and cognitive dysfunction, and can occur in patients with ion channel mutations. We report a novel and subtle bandlike subcortical heterotopia on integrated positron emission tomography-magnetic resonance imaging ( PET-MRI) in a patient with treatment-resistant epilepsy due to a de novo frameshift mutation. Our case highlights the potential for other channel mutations to cause both epilepsy and cortical malformations.

Application of RNS in refractory epilepsy: Targeting insula.

Although responsive neurostimulation (RNS) is approved for treatment of resistant focal epilepsy in adults, little is known about response to treatment of specific cortical targets. We describe the experience of RNS targeting the insular lobe. We identified patients who had RNS implantation with at least one electrode within the insula between April 2014 and October 2015.

[A clinical study of antiviral therapy for patients with compensated hepatitis C cirrhosis].

To investigate the effect of antiviral therapy on the progression of liver cirrhosis and related predictive factors through a retrospective analysis of patients with compensated hepatitis C cirrhosis. The patients with compensated hepatitis C cirrhosis who were treated in our hospital from 2004 to 2015 were divided into sustained virologic response (SVR) group, non-SVR (NSVR) group, and untreated group. The baseline features of patients with or without liver cirrhosis were compared to identify the predictive factors for the progression of liver cirrhosis.

A Serum Protein Signature Associated with Outcome after Anti-PD-1 Therapy in Metastatic Melanoma.

A mass spectrometry analysis was performed using serum from patients receiving checkpoint inhibitors to define baseline protein signatures associated with outcome in metastatic melanoma. Pretreatment serum was obtained from a development set of 119 melanoma patients on a trial of nivolumab with or without a multipeptide vaccine and from patients receiving pembrolizumab, nivolumab, ipilimumab, or both nivolumab and ipilimumab. Spectra were obtained using matrix-assisted laser desorption/ionization time of flight mass spectrometry.

Refractory Ulcerated Necrobiosis Lipoidica: Closure of a Difficult Wound with Topical Tacrolimus.

Objective: To report a case of refractory ulcerated necrobiosis lipoidica (NL) with significant response to treatment with topical tacrolimus.

Subject: A 55-year-old woman without diabetes and with a previous history of NL presented to the Helen L. and Martin S.

Are we missing non-motor seizures in Parkinson's disease? Two case reports.

Background: Parkinson's disease (PD) is predominantly recognized for its motor symptoms, but patients struggle from a morbid and heterogeneous collection of non-motor symptoms (NMS-PD) that can affect their quality of life even more. NMS-PD is a rather generalized term and the heterogeneity and non-specific nature of many symptoms poses a clinical challenge when a PD patient presents with non-motor complaints that may not be NMS-PD.

Case Presentation: We report two patients with idiopathic PD who presented with acute episodes of cognitive changes.

Should All Shoulder Dislocations be Closed Reduced? Assessment of Risk of Iatrogenic Injury in 150 Patients.

Aims: The purpose of this study was to determine if there was an association between iatrogenic fractures and closed reduction of shoulder dislocations.

Patients And Methods: In a retrospective case series, 150 consecutive patients with acute first time shoulder dislocations were evaluated. Patient demographics, direction of dislocation, associated injuries, reduction methods, number of attempts, and type of anesthesia/analgesia were determined.