Seeking Amyloidosis Very Early: Free light Chain Differentials and IGLV Gene Use as Screening Variables for Light-chain Amyloidosis in λ Monoclonal Gammopathies.

Background: Early diagnosis of systemic light-chain amyloidosis (AL) is needed because 25% of patients die within months of diagnosis. In patients with monoclonal gammopathy of undetermined significance (MGUS) or smoldering multiple myeloma (SMM) of the λ isotype, we explored the use of 2 screening variables: a free light chain difference of 23mg/L between λ and k and presence of IGLV genes that occur more frequently in AL.

Methods: Patients contacted us and we sent HIPAA release and consent forms for discussion by phone.

Genetic and Phenotypic Intra-Clade Variation in Candida auris Isolated from Critically Ill Patients in a New York City Tertiary Care Center.

Background: Candida auris is an emerging multidrug-resistant pathogen. Interpretation of susceptibility testing can be difficult since minimum inhibitory concentration (MIC) breakpoints have not been fully established.

Methods: All C.

Organophosphate pesticide chlorpyrifos and its metabolite 3,5,6-trichloropyridinol downregulate the expression of genes essential for spermatogenesis in caprine testes.

Organophosphate pesticides have potent endocrine disrupting effects, hence banned in many countries. However, many organophosphates like chlorpyrifos, malathion et cetera continue to be used in some countries (Wołejko et al., 2022; Wołejko et al.

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Objective: Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in 4 patients who lack pathogenic variants in known genetic causes.

Methods: Whole exome sequencing of the probands was performed to identify pathogenic variants.

Correction: Aging and sex are associated with multiple sleep latency test findings and their relationship with self-reported sleepiness.

[This corrects the article DOI: 10.1007/s41105-024-00512-5.].

Aging and sex are associated with multiple sleep latency test findings and their relationship with self-reported sleepiness.

The aim of this study was to assess age- and sex-related differences in multiple sleep latency test (MSLT) results and in the performance of the Epworth Sleepiness Scale (ESS) at classifying objective hypersomnia (mean sleep latency (MSL) ≤ 8 min). We studied 480 consecutive adults (39.3 ± 15.

Molecular and morphologic characterization of intraductal tubulopapillary neoplasms of pancreas with novel potentially targetable fusions.

Intraductal tubulopapillary neoplasms (ITPNs) are rare pancreatic tumors with distinct histological and molecular features. Distinction of ITPN from other pancreatic neoplasms is crucial given the known favorable prognosis and the high frequency and diversity of potentially targetable fusions in ITPN. While the histological features of ITPN are well documented, there are few reports on the cytological features, and molecular characterization of ITPN.

Correlates to Improvement in Sleep Duration in Acute Mania and Depression.

To examine sleep duration at admission and discharge and change in sleep duration during hospitalization in patients experiencing a manic episode and compare these parameters to patients hospitalized for major depressive disorder (MDD) during the same time frame. The correlation between sleep duration parameters in those with mania and MDD with length of hospital stay, after accounting for possible confounders, was also examined. This retrospective study examined patients admitted to an acute care psychiatric unit from 2018 to 2021 with an episode of mania or MDD.

Prevalence and associations of multiple hypnotic prescriptions in a clinical sample.

Study Objectives: We examined the prevalence of multiple hypnotic prescriptions and its association with clinical and demographic characteristics from the electronic health record (EHR) in the Mayo Clinic Biobank.

Methods: Adult participants enrolled in the Mayo Clinic Biobank with an EHR number of ≥ 1 year were included (n = 52,940). Clinical and demographic characteristics were compared between participants who were and were not prescribed any hypnotic approved for insomnia by the US Food and Drug Administration and/or trazodone and in those prescribed a single vs multiple (≥ 2) hypnotics.

Validation of the VirCapSeq-VERT system for differential diagnosis, detection, and surveillance of viral infections.

Broad range assay for accurate and sensitive diagnostics.

Clinical Utility and Reimbursement of Next-Generation Sequencing-Based Testing for Myeloid Malignancies.

Next-generation sequencing is becoming increasingly important for the diagnosis, risk stratification, and management of patients with established or suspected myeloid malignancies. These tests are being incorporated into clinical practice guidelines and many genetic alterations now constitute disease classification criteria. However, the reimbursement for these tests is uncertain.

Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection.

An epidemic caused by an outbreak of mpox (formerly monkeypox) in May 2022 rapidly spread internationally, requiring an urgent response from the clinical diagnostics community. A detailed description of the clinical validation and implementation of a laboratory-developed real-time PCR test for detecting nonvariola Orthopoxvirus-specific DNA based on the newly designed RealStar Zoonotic Orthopoxvirus assay is presented. The validation was performed using an accuracy panel (n = 97) comprising skin lesion swabs in universal transport media and from mpox virus genomic DNA spiked into pooled mpox virus-negative remnant universal transport media of lesion specimens submitted for routine clinical testing in the NewYork-Presbyterian Hospital clinical laboratory system.

Sex-specific associations between daytime sleepiness, chronic diseases and mortality in obstructive sleep apnea.

Objective: Excessive daytime sleepiness (EDS) is common in obstructive sleep apnea (OSA) and has been linked to adverse outcomes, albeit inconsistently. Furthermore, whether the prognostic impact of EDS differs as a function of sex is unclear. We aimed to assess the associations between EDS and chronic diseases and mortality in men and women with OSA.

Current clinical practices and challenges in molecular testing: a GOAL Consortium Hematopathology Working Group report.

While molecular testing of hematologic malignancies is now standard of care, there is variability in practice and testing capabilities between different academic laboratories, with common questions arising on how to best meet clinical expectations. A survey was sent to hematopathology subgroup members of the Genomics Organization for Academic Laboratories consortium to assess current and future practice and potentially establish a reference for peer institutions. Responses were received from 18 academic tertiary-care laboratories regarding next-generation sequencing (NGS) panel design, sequencing protocols and metrics, assay characteristics, laboratory operations, case reimbursement, and development plans.

Are clinical trials for insomnia recruiting real-world patients?

Unlabelled: Recent Phase III trials of hypnotic medications that have led to Food and Drug Administration approval have severely restrictive eligibility criteria. One hundred patients referred for insomnia who received a hypnotic medication at a large tertiary referral center were identified. Data were extracted to evaluate whether these patients would be eligible to be included in any of the recent Phase III trials.

Papillary Intralymphatic Angioendothelioma in a Child With -Related Overgrowth Spectrum: Implication of PI3K Pathway in the Vascular Tumorigenesis.

Papillary intralymphatic angioendothelioma (PILA) is an extremely rare vascular tumor and its pathogenesis is unknown. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS) is a heterogeneous group of disorders caused by mosaicism for activating mutations of and characterized by asymmetric overgrowth, skeletal anomalies, skin lesions, and vascular malformations. An association between PILA and PROS has not been known.

The Interaction Between Brain-Derived Neurotrophic Factor Levels and Alcohol Consumption, Sleep Disturbance and Sex-Hormones in Alcohol Use Disorders.

Aims: Brain-derived neurotrophic factor (BDNF) levels may be associated with alcohol use disorders (AUD) and alcohol consumption, correlate with sleep disturbance and be influenced by sex differences and sex hormones. These associations have not been examined in a single sample accounting for all these factors.

Methods: Data from 190 participants (29.

Moving toward standardization: physician reporting of sleep studies.

Unlabelled: Detailed primary data collected from sleep studies should lead to specific and clear reports with evidence-based clinical recommendations that, when introduced by sleep medicine specialists, create a window of opportunity to support our non-sleep medicine referring teams and to engage patients and caregivers in their care as recipients of the reports. This is how sleep study reporting differs from other test reports; currently, there is wide variation in how the data collected are presented and summarized. The goal of this document is to offer recommendations for structured reporting of sleep studies.

Sleep apnea and autonomic dysfunction in patients with dementia.

Sleep apnea is common sleep disorder that is associated with an is an increase in risk of many health conditions, including systemic hypertension, stroke, atrial fibrillation, and heart failure. The predominant underlying pathophysiological mechanism for elevated risk of these conditions in patients with sleep apnea is thought to involve autonomic dysfunction in the form of sympathetic overactivity. Autonomic dysfunction is also associated with several neurodegenerative disorders and sleep apnea, in turn, has been shown to be associated with an increased risk of development of mild cognitive impairment and various types of dementia.

Quality metrics for enhanced performance of an NGS panel using single-vial amplification technology.

Aims: Targeted next-generation sequencing (NGS) panels, which identify genomic alterations, are the stronghold of molecular oncology laboratories. In spite of technological advances, the quantity and quality of DNA from formalin-fixed paraffin-embedded tissue and paucicellular specimens are barriers to successful sequencing. Here, we describe an NGS assay employing single tube stem-loop inhibition mediated amplification technology that delivers highly accurate results with low input DNA.

International Consensus Statement on Obstructive Sleep Apnea.

Background: Evaluation and interpretation of the literature on obstructive sleep apnea (OSA) allows for consolidation and determination of the key factors important for clinical management of the adult OSA patient. Toward this goal, an international collaborative of multidisciplinary experts in sleep apnea evaluation and treatment have produced the International Consensus statement on Obstructive Sleep Apnea (ICS:OSA).

Methods: Using previously defined methodology, focal topics in OSA were assigned as literature review (LR), evidence-based review (EBR), or evidence-based review with recommendations (EBR-R) formats.

Assessing the quality of publicly available videos on MDMA-assisted psychotherapy for PTSD.

Background And Objectives: Patients increasingly rely on the Internet for healthcare information. This study aimed to evaluate the quality of videos on 3,4-methylenedioxymethamphetamine (MDMA)-assisted psychotherapy for posttraumatic stress disorder (PTSD) on YouTube™.

Methods: YouTube™ was searched for the terms "MDMA" and "PTSD.

Benchmarking bioinformatics approaches for tumour mutational burden evaluation from a large cancer panel against whole-exome sequencing.

Tumour mutational burden (TMB) is used to predict response to immunotherapies. Although several groups have proposed calculation methods for TMB, a clear consensus has not yet emerged. In this study, we explored TMB calculation approaches with a 586-gene cancer panel (1.