DICER1-sarcomas of GYN tract: Expanding on an emerging entity.

Tumors with pathogenic DICER1 mutation are rare and encompass sporadic or hereditary benign, intermediate and malignant tumors. DICER1-associated sarcomas are heterogeneous; however, the prototypical ones in the GYN-tract include embryonal rhabdomyosarcoma, adenosarcoma and moderately to poorly differentiated Sertoli-Leydig tumor. In this report, we present three unique uterine sarcomas with DICER1 mutation and remarkable diffuse round/spindle cell morphology.

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

Somatic mosaic variants contribute to focal epilepsy, but genetic analysis has been limited to patients with drug-resistant epilepsy (DRE) who undergo surgical resection, as the variants are mainly brain-limited. Stereoelectroencephalography (sEEG) has become part of the evaluation for many patients with focal DRE, and sEEG electrodes provide a potential source of small amounts of brain-derived DNA. We aimed to identify, validate, and assess the distribution of potentially clinically relevant mosaic variants in DNA extracted from trace brain tissue on individual sEEG electrodes.

Prolonged Cold Exposure Negatively Impacts Atlantic Salmon () Liver Metabolism and Function.

Large-scale mortality events have occurred during the winter in Atlantic salmon sea cages in Eastern Canada and Iceland. Thus, in salmon held at 3 °C that were apparently healthy (i.e.

Historical Mortality Dynamics on the Baja California Peninsula : Marriage, Mining Booms, Migration, and Infectious Disease.

Historical demographic research shows that the factors influencing mortality risk are labile across time and space. This is particularly true for datasets that span societal transitions. Here, we seek to understand how marriage, migration, and the local economy influenced mortality dynamics in a rapidly changing environment characterized by high in-migration and male-biased sex ratios.

CLEC11A methylation is correlated to AML subtypes and cytogenetic risk factors but not patient demographics.

Acute myeloid leukemia (AML) is an aggressive and lethal cancer of the blood, which leads to the death of over 11,000 patients in the United States each year. Research on identifying, characterizing, and treating AML is crucial in the fight against this deadly disease. Recent studies have examined the role of CLEC11A in cancer, including AML.

Psychological distress, vaccine, and booster acceptance in women considering or undergoing fertility treatments during the Omicron surge of the COVID-19 pandemic.

Objective: Follow-up study to evaluate perceptions of COVID-19 vaccination and booster with psychological distress during the COVID-19 pandemic and Omicron surge in women considering or undergoing fertility treatment.

Materials And Methods: Cross-sectional anonymous survey (N = 2558) from a single academic fertility center. Five hundred forty patients completed the survey (response rate = 21.

Speech-in-Noise Assessment in the Routine Audiologic Test Battery: Relationship to Perceived Auditory Disability.

Objectives: Self-assessment of perceived communication difficulty has been used in clinical and research practices for decades. Such questionnaires routinely assess the perceived ability of an individual to understand speech, particularly in background noise. Despite the emphasis on perceived performance in noise, speech recognition in routine audiologic practice is measured by word recognition in quiet (WRQ).

Measuring Developmental Delays: Comparison of Parent Report and Direct Testing.

Purpose: Developmental assessment is part of a comprehensive autism evaluation. During in-person evaluations, developmental assessment is completed via direct testing by an examiner. In telehealth evaluations, developmental assessment relies on caregiver-report instruments.

Multi-phase failure modes and effects analysis for low dose bilateral whole lung irradiation of COVID-19 positive patients requiring respiratory ventilation.

Purpose: To identify high-priority risks in a clinical trial investigating the use of radiation to alleviate COVID-19 pneumonia using a multi-phase failure modes and effects analysis (FMEA).

Methods: A comprehensive FMEA survey of 133 possible causes of failure was developed for the clinical trial workflow (Phase I). The occurrence, severity, and detection risk of each possible cause of failure was scored by three medical physicists.

Effects of child trauma screening on trauma-informed multidisciplinary evaluation and service planning in the child welfare system.

Despite the prevalence of exposure to potentially traumatic events (PTEs) among children involved with the child welfare system (CWS), trauma screening is not yet a common practice. The purpose of this study was to assess the impact of embedding a formal trauma screening process in statewide multidisciplinary evaluations for CWS-involved youth. A retrospective record review was conducted with two random samples of cases reflecting both pre- and postimplementation of formal screening procedures (n = 70 preimplementation, n = 100 postimplementation).

Stable thyroid cancer in a patient with thoracic aortic aneurysm and MYH11 variation.

Summary: We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the MYH11 gene. Because of considerable tumor bulk in the neck that was not resectable, the patient underwent partial resection at age 14 years. Since then, the patient has received only suppressive thyroid hormone therapy.

Somatic Mosaicism in Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.

Objectives: Brain-limited pathogenic somatic variants are associated with focal pediatric epilepsy, but reliance on resected brain tissue samples has limited our ability to correlate epileptiform activity with abnormal molecular pathology. We aimed to identify the pathogenic variant and map variant allele fractions (VAFs) across an abnormal region of epileptogenic brain in a patient who underwent stereoelectroencephalography (sEEG) and subsequent motor-sparing left frontal disconnection.

Methods: We extracted genomic DNA from peripheral blood, brain tissue resected from peri-sEEG electrode regions, and microbulk brain tissue adherent to sEEG electrodes.

Mechanisms of action of an investigational new freeze-dried platelet-derived hemostatic product.

Background: A safe and efficacious hemostatic product with a long shelf-life is needed to reduce mortality from hemorrhage due to trauma and improve surgical outcomes for persons with platelet deficiency or dysfunction. Thrombosomes, a trehalose-stabilized, leukoreduced, pooled blood group-O freeze-dried platelet-derived hemostatic (FPH) with a 3-year shelf-life, may satisfy this need.

Objectives: To characterize the mechanism of action of FPH.

Benign female genital tract smooth muscle tumors with adipocytic differentiation: A morphologic, immunohistochemical and MDM2 fluorescence in situ hybridization study of 44 conventional lipoleiomyomas and lipoleiomyoma variants.

Leiomyomas with adipocytic differentiation typically occur in the uterus although they may arise at several sites in the female genital tract. While these are most commonly spindled leiomyomas with a component of adipocytic tissue ("conventional lipoleiomyomas"), there is a relatively ill-defined assortment of leiomyoma variants with adipocytic differentiation. We performed a morphologic, immunohistochemical and MDM2 gene amplification analysis of a large series of gynecologic leiomyomas with adipocytic differentiation to better define the clinicopathologic spectrum.

The evolution of cervical cancer screening.

There are few medical success stories in history as significant as the reduction in cervical cancer incidence. Through the collaborative efforts of dedicated scientific pioneers, the past century has witnessed remarkable advancement that began with the detection of exfoliated cancer cells through cytologic examination to widespread implementation of cervical cancer screening programs to the discovery of the link between cervical cancer and human papillomavirus (HPV). Current screening methods apply HPV-based testing, and artificial intelligence-based screening systems utilizing digitalized cytology images are being used in a continuous effort to optimize the accuracy and efficiency of the Papanicolaou test.