SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases.

An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed.

Exploring the Influence of Extended High-Frequency Hearing on Cochlear Functioning at Lower Frequencies.

Purpose: Diminished basal cochlear function, as indicated by elevated hearing thresholds in the extended high frequencies (EHFs), has been associated with lower levels of click-evoked and distortion-product otoacoustic emissions measured at lower frequencies. However, stimulus-frequency otoacoustic emissions (SFOAEs) at low-probe levels are reflection-source emissions that do not share the same generation mechanism as distortion-source emissions. The primary objective of the present study was to examine the influence of hearing thresholds in the EHFs on SFOAEs measured at lower frequencies.

Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies.

Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphologic, immunophenotypic, and clinical features. Next-generation sequencing (NGS) is increasingly being applied to delineate the complex nature of these malignancies and identify high-value biomarkers with diagnostic, prognostic, or therapeutic benefit. However, there are various challenges in using NGS routinely to characterize lymphoid malignancies, including pre-analytic issues, such as sequencing DNA from formalin-fixed, paraffin-embedded tissue, and optimizing the bioinformatic workflow for accurate variant calling and filtering.

Retro Oesophageal Transfer of Contralateral C7 in Birth Brachial Plexus Injury - A Retrospective Study.

Presence of available healthy nerve roots on the injured side determines the outcome after nerve reconstruction. Paucity of nerve roots warrants contralateral C7 harvest for optimal results. We aim to study the risks and benefits of retro oesophageal transfer of contralateral C7 root in infants with birth brachial plexus injury.

Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered?

Diffuse midline glioma, H3 K27-altered (DMG-H3 K27) is an aggressive group of diffuse gliomas that predominantly occurs in pediatric patients, involves midline structures, and displays loss of H3 p.K28me3 (K27me3) expression by immunohistochemistry and characteristic genetic/epigenetic profile. Rare examples of a diffuse glioma with an H3 p.

Structural and optical properties of the Ag-tyrosine complexes ( = 3-12): a density functional theory study.

We study the optical properties of Ag ( = 3-12) neutral clusters and their coordination with a tyrosine (Tyr) molecule. A global search strategy coupled with density functional theory (DFT) computations explored the potential energy surface. Adsorption energy calculations predicted that Tyr coordination stabilizes the metal clusters, favouring the Ag-Tyr complexes with an even number of silver atoms.

Explainable machine learning reveals the relationship between hearing thresholds and speech-in-noise recognition in listeners with normal audiograms.

Some individuals complain of listening-in-noise difficulty despite having a normal audiogram. In this study, machine learning is applied to examine the extent to which hearing thresholds can predict speech-in-noise recognition among normal-hearing individuals. The specific goals were to (1) compare the performance of one standard (GAM, generalized additive model) and four machine learning models (ANN, artificial neural network; DNN, deep neural network; RF, random forest; XGBoost; eXtreme gradient boosting), and (2) examine the relative contribution of individual audiometric frequencies and demographic variables in predicting speech-in-noise recognition.

Salutary attributes of probiotic human gut lactobacilli for gut health.

Lactobacilli are GRAS organisms and are important members of gut microbiota. They have been strongly recommended as probiotics because of many benefits provided by them to overall human health. Human gut lactobacilli with salutary properties can provide additional advantages.

Effect of Sensory Modality on Reaction Time in Individuals with Auditory Neuropathy Spectrum Disorder.

Purpose: To investigate and compare the reaction time of individuals with auditory neuropathy in three modalities, auditory, visual, and audio-visual. The reaction time of individuals with auditory neuropathy was also compared with those with normal hearing. The relationship between reaction time across modalities and the duration of hearing loss in auditory neuropathy was also investigated.

The Genome of the Mimosoid Legume , a Desert Tree.

The mimosoid legumes are a clade of ~40 genera in the Caesalpinioideae subfamily of the Fabaceae that grow in tropical and subtropical regions. Unlike the better studied Papilionoideae, there are few genomic resources within this legume group. The tree is native to the Near East and Indian subcontinent, where it thrives in very hot desert environments.

Salt flat microbial diversity and dynamics across salinity gradient.

Sabkhas are hypersaline, mineral-rich, supratidal mudflats that harbor microbes that are adapted to high salt concentration. Sabkha microbial diversity is generally studied for their community composition, but less is known about their genetic structure and heterogeneity. In this study, we analyzed a coastal sabkha for its microbial composition using 16S rDNA and whole metagenome, as well as for its population genetic structure.

An EMR-based alert with brief provider-led ART adherence counseling in Haiti: effects on information, motivation, and behavioral skills (IMB) and patient-provider communication (PPC).

We examined the secondary effects of an antiretroviral therapy (ART) adherence intervention on information, motivation, and behavioral skills (IMB) and patient-provider communication (PPC). Data were from a sample of 116 patients enrolled in a quasi-experimental mixed-methods study at two large ART clinics in Haiti. We examined changes in IMB and PPC scores after the intervention and the association between baseline PPC and endline IMB.

Transcriptome Profiling and Functional Validation of RING-Type E3 Ligases in Halophyte under Salinity Stress.

Owing to their sessile nature, plants have developed a tapestry of molecular and physiological mechanisms to overcome diverse environmental challenges, including abiotic stresses. Adaptive radiation in certain lineages, such as Aizoaceae, enable their success in colonizing arid regions and is driven by evolutionary selection. Sesuvium verrucosum (commonly known as Western sea-purslane) is a highly salt-tolerant succulent halophyte belonging to the Aizoaceae family; thus, it provides us with the model-platform for studying plant adaptation to salt stress.

The Situated Information, Motivation, and Behavioral Skills Model of HIV Antiretroviral Therapy Adherence Among Persons Living With HIV in Haiti: A Qualitative Study Incorporating Culture and Context.

To inform a clinic-based adherence-promotion intervention, this qualitative study applied the Situated Information, Motivation, and Behavioral Skills Model of Care Initiation and Maintenance to elucidate cultural and contextual factors affecting antiretroviral therapy adherence in Haiti. From the 23 focus group discussions with patients ( n = 58) and health care workers ( n = 57), culturally specific themes emerged relating to Information (e.g.

Automation of hybridization and capture based next generation sequencing library preparation requires reduction of on-deck bead binding and heated wash temperatures.

Capture-based library preparation for next generation sequencing (NGS) offers a balance between sequencing depth and bioinformatics cost of analysis. Liquid handling automation enhances the reliability of the library preparation process by reducing sample-to-sample variation and substantially enhances throughput, particularly when it can be employed in a 'walk-away' fashion with limited hands-on interaction. This requires complex series of mixing and heating steps like those utilized in capture chemistries to happen on the liquid handler.

Benefit on daily listening with technological advancements: comparison of basic and premium category hearing aids.

Purpose: The aim of the study was to compare the user-rated benefit of two categories of hearing aids, mainly the basic and premium categories of hearing aids.

Methods: A questionnaire was administered on 102 hearing aids users (47 basic and 55 premium category users) with severity of hearing loss ranging from mild to moderately severe sensorineural hearing loss. The questionnaire administered was divided into mainly seven subscales which included speech intelligibility in quiet and in noise, ease of communication, the efficiency of noise reduction, localization, quality of music perception and cost effectiveness.

Modulation of Epithelial Mesenchymal Transition after AGTR-1 Gene Edition by Crispr/Cas9 and Losartan Treatment in Mammary Tumor Cell Line: A Comparative Study between Human and Canine Species.

Breast cancer is the most prevalent tumor type among women and female dogs. Tumor malignancy is characterized by the epithelial-to-mesenchymal transition (EMT) which leads to the metastasis formation. The inhibition of angiotensin II type I receptor (AGTR1) by an antagonist such as losartan can suppress angiogenesis, consequently contributing to the metastasis control.

COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation.

Background: COVID-19 is caused by the SARS-CoV-2 virus and has strikingly heterogeneous clinical manifestations, with most individuals contracting mild disease but a substantial minority experiencing fulminant cardiopulmonary symptoms or death. The clinical covariates and the laboratory tests performed on a patient provide robust statistics to guide clinical treatment. Deep learning approaches on a data set of this nature enable patient stratification and provide methods to guide clinical treatment.

Free Vascularized Joint Transfer from Toes for Finger Reconstruction in a 2-Year-Old Child with Good Functional Recovery.

A 2-year-old male child sustained injury to middle and ring fingers of the right hand following a road traffic accident. He had mutilated fingers with loss of middle phalanx along with proximal interphalangeal (PIP) joint, distal interphalangeal joint of middle finger, and loss of part of middle phalanx and PIP joint of the ring finger. There was dorsal tissue loss of both the fingers.

Short-Term Effects of the COVID-19 Pandemic on HIV Care Utilization, Service Delivery, and Continuity of HIV Antiretroviral Treatment (ART) in Haiti.

Introduction: Our study describes changes in HIV care service delivery and continuity of HIV antiretroviral therapy (ART) for people living with HIV (PLHIV) during the 8 weeks before and after diagnosis of the first coronavirus disease 2019 (COVID-19) cases in Haiti on March 19, 2020.

Methods: Using data from 96 out of 167 health facilities offering ART services, we compared four ART program indicators: (1) count of HIV visits; (2) proportion of ART dispenses in community-based settings (DAC); (3) proportion of multi-month dispensing of ART medications > 6 months (> 6 m MMD); and (4) proportion of timely ART refills. We used uncontrolled interrupted time series (ITS) models to estimate slope and level changes in each indicator with the arrival of COVID-19.

Patient-Provider Communication and Information, Motivation, and Behavioral Skills in HIV-Positive Adults Initiating Antiretroviral Therapy in Haiti.

While Haiti has scaled up use of antiretroviral therapy (ART), current studies suggest sub-optimal adherence threatens long-term viral suppression in this understudied setting. Patient-provider communication (PPC) and information, motivation, and behavioral skills (IMB) have been implicated in ART adherence globally. However, no studies have examined their relevance in Haiti.