Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Background: Diagnosis of hereditary amyloid transthyretin (hATTR) amyloidosis with cardiomyopathy is frequently delayed, in large part because of symptom overlap with other cardiovascular diseases and limited provider knowledge of this disease. The sponsored and provider referred hATTR Compass Genetic Testing Program (Ionis, Carlsbad, CA; Ambry Genetics, Aliso Viejo, CA) provided no-cost genetic testing to adults with a family history or clinical suspicion of hATTR amyloidosis. This study aims to characterize patients with hATTR amyloidosis and increase awareness of genetic testing for hATTR.

Pralatrexate injection combined with CHOP for treatment of PTCL: results from the Fol-CHOP dose-finding phase 1 trial.

Pralatrexate is a folate antagonist that selectively enters cells expressing reduced folate carrier type 1 and competitively inhibits dihydrofolate reductase, leading to interruption of RNA synthesis, DNA replication, and apoptosis. This phase 1 study was conducted to evaluate the maximum tolerated dose (MTD) of pralatrexate in combination with cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) regimen (part 1) and the response and pharmacokinetics of 6 cycles of this combination (CHOP + Folotyn 30 mg/m2 [Fol-CHOP]) in patients with newly diagnosed peripheral T-cell lymphoma (PTCL). In part 1, on days 1 and 8 of each cycle, patients were treated with 10, 15, 20, 25, or 30 mg/m2 of pralatrexate in combination with CHOP, per dose escalation, in 5 sequential cohorts.

Identification of combinatorial miRNA panels derived from extracellular vesicles as biomarkers for esophageal squamous cell carcinoma.

MicroRNAs (miRNAs) are relatively stable in blood, emerging as one of the most promising biomarkers in tumor liquid biopsy. Both total and extracellular vesicles (EVs) encapsulated miRNA have been studied for prognostic potential in a variety of cancers. Here, we systematically compared and verified the total and vesicle-derived miRNA expression profiles from plasma samples in healthy controls and patients with esophageal squamous cell carcinoma (ESCC).

The influence of patient position on ultrasound examination of the sciatic nerve in the popliteal fossa: A cross-sectional study.

Introduction/purpose: Ultrasound-guided popliteal fossa sciatic nerve (PFSN) blocks are performed with patients in the supine, lateral or prone position. No known studies compare the quality of images obtained from each approach. This study examines the quality of supine and prone PFSN ultrasound images.

Poor Concordance of One-Third Anterior-Posterior Chest Diameter Measurements With Absolute Age-Specific Chest Compression Depth Targets in Pediatric Cardiac Arrest Patients.

Background Current pediatric cardiac arrest guidelines recommend depressing the chest by one-third anterior-posterior diameter (APD), which is presumed to equate to absolute age-specific chest compression depth targets (4 cm for infants and 5 cm for children). However, no clinical studies during pediatric cardiac arrest have validated this presumption. We aimed to study the concordance of measured one-third APD with absolute age-specific chest compression depth targets in a cohort of pediatric patients with cardiac arrest.

Association of Number of Live Births With Electrocardiographic and Cardiac Structural Changes.

Background Pregnancy is a major life event unique to women and leads to significant hemodynamic, hormonal, and metabolic changes. The purpose of this study was to use the DHS (Dallas Heart Study), a multiethnic population-based cohort study of Dallas county adults, to evaluate the association between number of live births and cardiac magnetic resonance imaging and ECG parameters later in life. Methods and Results Women were included if they had data on self-reported live births and ECG or cardiac magnetic resonance imaging measurements.

Perspectives from recent advances of Helicobacter pylori vaccines research.

Background: Helicobacter pylori (H. pylori) infection is the main factor leading to some gastric diseases. Currently, H.

Illustrated State-of-the-Art Capsules of the ISTH 2022 Congress.

The ISTH London 2022 Congress is the first held (mostly) face-to-face again since the COVID-19 pandemic took the world by surprise in 2020. For 2 years we met virtually, but this year's in-person format will allow the ever-so-important and quintessential creativity and networking to flow again. What a pleasure and joy to be able to see everyone! Importantly, all conference proceedings are also streamed (and available recorded) online for those unable to travel on this occasion.

Antimuscarinic Anticholinergic Medications in Parkinson Disease: To Prescribe or Deprescribe?

The relative importance of antimuscarinic anticholinergic medications for Parkinson's disease (PD) declined after the introduction of levodopa, such that anticholinergic medications are now much more likely to be prescribed for clinical indications other than parkinsonism. Recent studies have found an association between anticholinergic medication exposure and future risk of dementia in older individuals and those with PD. These findings provide a further reason to avoid the use of anticholinergic medications to treat motor symptoms of PD.

Transcatheter Aortic Valve Replacement With Self-Expandable Supra-Annular Valves for Degenerated Surgical Bioprostheses: Insights From Transcatheter Valve Therapy Registry.

Background Transcatheter aortic valve replacement with supra-annular transcatheter heart valves has been adopted in patients with degenerated surgical aortic valves. The next generation self-expanding Evolut PRO valve has not been evaluated in patients with surgical valve failure. Methods and Results Patients undergoing transcatheter aortic valve replacement in degenerated surgical aortic valve procedures using the Evolut R or Evolut PRO transcatheter heart valves in the Society of Thoracic Surgeons and American College of Cardiology Transcatheter Valve Therapy Registry between April 2015 and June 2019 were evaluated.

Advances in clinical immunotherapy for gastric cancer.

Gastric cancer (GC) is one of the most malignant human cancers with increasing incidence worldwide, ranking among the top five malignant tumors worldwide in terms of incidence and mortality. The clinical efficacy of conventional therapies is limited, and the median overall survival (mOS) for advanced-stage gastric cancer is only about 8 months. Emerging as one of breakthroughs for cancer therapy, immunotherapy has become an effective treatment modality after surgery, chemotherapy, radiotherapy, and targeted therapy.

Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD.

Introduction: The decision to undergo genetic testing for familial frontotemporal dementia (fFTD) is challenging and complex. When counseling individuals, clinicians need to know what individuals understand about the type of fFTD for which they may be at elevated risk. Unfortunately, no tools to measure understanding of fFTD exist, and no study has investigated knowledge gain from fFTD genetic counseling.

[C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose-1-phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established, the extent of the clinical phenotype is still under investigation. We describe a 6-year-old female who was diagnosed with galactokinase deficiency due to cataract formation when she was 10 months of age and initially started on galactose-restricted diet at that time for 5 months.

TeleSimBox: A perceived effective alternative for experiential learning for medical student education with social distancing requirements.

Introduction: During the COVID-19 pandemic the Association of American Medical Colleges recommended that medical students not be involved with in-person patient care or teaching, necessitating alternative learning opportunities. Subsequently we developed the telesimulation education platform: TeleSimBox. We hypothesized that this remote simulation platform would be feasible and acceptable for faculty use and a perceived effective method for medical student education.

Modifiable Comorbidities Associated with Cognitive Decline in Parkinson's Disease.

Background: Cognitive impairment (CI) is one of the most feared and debilitating complications of PD. No therapy has been shown to slow or prevent CI in PD.

Objective: To determine associations between modifiable comorbidities, including cardiovascular disease risk factors, mood disorders, and sleep characteristics, and rate of cognitive decline in Parkinson's disease (PD).

Predicting cardiac arrest in the emergency department.

In-hospital cardiac arrest remains a leading cause of death: roughly 300,000 in-hospital cardiac arrests occur each year in the United States, ≈10% of which occur in the emergency department. ED-based cardiac arrest may represent a subset of in-hospital cardiac arrest with a higher proportion of reversible etiologies and a higher potential for neurologically intact survival. Patients presenting to the ED have become increasingly complex, have a high burden of critical illness, and face crowded departments with thinly stretched resources.

The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areata.

Background: A systematic review failed to identify any systemic therapy used in alopecia areata (AA) where use is supported by robust evidence from high-quality randomized controlled trials.

Objective: To produce an international consensus statement on the use and utility of various treatments for AA.

Methods: Fifty hair experts from 5 continents were invited to participate in a 3-round Delphi process.

Considerations of psychotic symptomatology in anti-NMDA encephalitis: Similarity to cycloid psychosis.

Most patients with anti-NMDA receptor (NMDAR) encephalitis present with acute psychosis which is difficult to differentiate from psychotic episodes related to a primarily psychiatric disease. A precise description of the psychiatric phenotype of this disease would greatly facilitate the early diagnosis of these patients. We provide here a detailed description of three of these patients and the similarity of the clinical features with cycloid psychosis.

Perceptions of Public and Nonpublic Reporting of Interventional Cardiology Outcomes and Its Impact on Practice: Insights From the Veterans Affairs Clinical Assessment, Reporting, and Tracking Program.

Background Physicians have expressed significant mistrust with public reporting of interventional cardiology outcomes. Similar data are not available on alternative reporting structures, including nonpublic quality improvement programs with internally distributed measures of interventional quality. We thus sought to evaluate the perceptions of public and nonpublic reporting of interventional cardiology outcomes and its impact on clinical practice.

Association of Adverse Pregnancy Outcomes With Hypertension 2 to 7 Years Postpartum.

Background Identifying pregnancy-associated risk factors before the development of major cardiovascular disease events could provide opportunities for prevention. The objective of this study was to determine the association between outcomes in first pregnancies and subsequent cardiovascular health. Methods and Results The Nulliparous Pregnancy Outcomes Study Monitoring Mothers-to-be Heart Health Study is a prospective observational cohort that followed 4484 women 2 to 7 years (mean 3.

Hospitalizations of Children with Huntington's Disease in the United States.

Background: Juvenile Huntington's disease (JHD) is a childhood-onset neurodegenerative disorder. Although it is caused by the same pathologic expansion of CGA repeats as adult-onset Huntington's disease, JHD has distinct clinical features. Most clinical research in HD focuses in the adult-onset disease; therefore, little is known about acute care outcomes for patients with JHD.