Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.

Importance: Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.

Objective: To evaluate how frequently genetic testing results would prompt changes in care for individuals with CP and the clinical utility of precision medicine therapies.

Data Sources: Published pathogenic or likely pathogenic variants in OMIM genes identified with exome sequencing in clinical (n = 1345) or research (n = 496) cohorts of CP were analyzed.

Performing liver imaging at a high level: quality and adequacy in LI-RADS.

Imaging is critical to HCC management, including surveillance, diagnosis, staging, and treatment response assessment, which requires it be performed consistently at a high level. The Liver Imaging Reporting and Data System (LI-RADS) was developed to standardize the acquisition, interpretation, and reporting of liver imaging, but until now, has not addressed the essential component of exam quality and adequacy. In this manuscript, we discuss the concepts of quality and adequacy and their clinical significance in the setting of HCC diagnostic imaging and treatment response assessment.

Impact of underlying liver disease on unresectable hepatocellular carcinoma treated with immune checkpoint inhibitors.

Background: Immune checkpoint inhibitors (ICIs) are standard therapy for unresectable HCC, but many patients do not respond. Non-viral HCC, particularly non-alcoholic steatohepatitis (NASH), have been implicated in ICI resistance.

Methods: We reviewed 288 patients with unresectable HCC who received ICI from 1/2017 to 12/2021.

Prediction of hepatocellular carcinoma response to radiation segmentectomy using an MRI-based machine learning approach.

Purpose: To evaluate the value of pre-treatment MRI-based radiomics in patients with hepatocellular carcinoma (HCC) for the prediction of response to Yttrium 90 radiation segmentectomy.

Methods: This retrospective study included 154 patients (38 female; mean age 66.8 years) who underwent contrast-enhanced MRI prior to radiation segmentectomy.

Intermittent ozone inhalation during house dust mite-induced sensitization primes for adverse asthma phenotype.

The ability of air pollution to induce acute exacerbation of asthma is well documented. However, the ability of ozone (O), the most reactive gaseous component of air pollution, to function as a modulator during sensitization is not well established. C57BL/6 J male mice were intranasally sensitized to house dust mite (HDM) (40 μg/kg) for 3 weeks on alternate days in parallel with once-a-week O exposure (1 ppm).

A Multi-Institutional Study of Magnetic Resonance/Ultrasound Fusion-Guided Nanoparticle-Directed Focal Therapy for Prostate Ablation.

Purpose: Focal therapy aims to provide a durable oncologic treatment option for men with prostate cancer (PCa), while preserving their quality of life. Most focal therapy modalities rely on the direct tissue effect, resulting in a possible nontargeted approach to ablation. Here, we report the results of the first human feasibility trial utilizing nanoparticle-directed focal photothermal ablation for PCa.

Quantification of Multi-Compartment Flow with Spectral Diffusion MRI.

Purpose: Estimation of multi-compartment intravoxel 'flow' in in ml/100g/min with multi-b-value diffusion weighted imaging and a multi-Gaussian model in the kidneys.

Theory And Methods: A multi-Gaussian model of intravoxel flow using water transport time to quantify (ml/100g/min) is presented and simulated. Multi-compartment anisotropic DWI signal is simulated with Rician noise and SNR=50 and analyzed with a rigid bi-exponential, a rigid tri-exponential and diffusion spectrum imaging model of intravoxel incoherent motion (spectral diffusion) to study extraction of multi-compartment flow.

Development and Validation of a Noninvasive Model for the Detection of High-Risk Varices in Patients With Unresectable Hepatocellular Carcinoma.

Background & Aims: Noninvasive variceal risk stratification systems have not been validated in patients with hepatocellular carcinoma (HCC), which presents logistical barriers for patients in the setting of systemic HCC therapy. We aimed to develop and validate a noninvasive algorithm for the prediction of varices in patients with unresectable HCC.

Methods: We performed a retrospective cohort study in 21 centers in the United States including adult patients with unresectable HCC and Child-Pugh A5-B7 cirrhosis diagnosed between 2007 and 2019.

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies.

Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant and with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy.

The Spatial Extracellular Proteomic Tumor Microenvironment Distinguishes Molecular Subtypes of Hepatocellular Carcinoma.

Hepatocellular carcinoma (HCC) mortality rates continue to increase faster than those of other cancer types due to high heterogeneity, which limits diagnosis and treatment. Pathological and molecular subtyping have identified that HCC tumors with poor outcomes are characterized by intratumoral collagenous accumulation. However, the translational and post-translational regulation of tumor collagen, which is critical to the outcome, remains largely unknown.

Potential clinical applications of advanced genomic analysis in cerebral palsy.

Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection.

Performance of Tumor Surveillance for Children With Cancer Predisposition.

Importance: Pediatric oncology patients are increasingly recognized as having an underlying cancer predisposition syndrome (CPS). Surveillance is often recommended to detect new tumors at their earliest and most curable stages. Data on the effectiveness and outcomes of surveillance for children with CPS are limited.

Maternal nano-titanium dioxide inhalation exposure alters placental cyclooxygenase and oxidant balance in a sexually dimorphic manner.

The placenta plays a critical role in nutrient-waste exchange between the maternal and fetal circulation, and thus impacts fetal growth and development. We have previously shown that nano-titanium dioxide (nano-TiO) inhalation exposure during gestation decreased fetal female pup and placenta mass [1], which persists in the following generation [2]. In utero exposed females, once mated, their offspring's placentas had increased capacity for HO production.

Characterization of renal masses with MRI-based radiomics: assessment of inter-package and inter-observer reproducibility in a prospective pilot study.

Objectives: To evaluate radiomics features' reproducibility using inter-package/inter-observer measurement analysis in renal masses (RMs) based on MRI and to employ machine learning (ML) models for RM characterization.

Methods: 32 Patients (23M/9F; age 61.8 ± 10.

Genomes for Nurses: Understanding and Overcoming Barriers to Nurses Utilizing Genomics.

Genomic testing is an increasingly important technology within pediatric oncology that aids in cancer diagnosis, provides prognostic information, identifies therapeutic targets, and reveals underlying cancer predisposition. However, nurses lack basic knowledge of genomics and have limited self-assurance in using genomic information in their daily practice. This single-institution project was carried out at an academic pediatric cancer hospital in the United States with the aim to explore the barriers to achieving genomics literacy for pediatric oncology nurses.

Illuminating Firefly Diversity: Trends, Threats and Conservation Strategies.

Fireflies are a diverse group of bioluminescent beetles belonging to the family Lampyridae. Recent research on their diversity, evolution, behavior and conservation has greatly advanced our scientific understanding of these charismatic insects. In this review, we first summarize new discoveries about their taxonomic and ecological diversity, then focus on recent endeavors to identify and protect threatened fireflies around the world.

Utility of nifedipine use for Doppler ultrasound early after liver transplantation to predict short-term complications and long-term outcomes.

Purpose: To evaluate the response to nifedipine administration measured by changes in hepatic arterial (HA) flow on post-operative Doppler ultrasound (US) to predict short-term complications and long-term outcomes in liver transplant (LT) patients.

Methods: Patients who underwent LT with post-operative Doppler US within 3 days between 1 January 2005 and 31 December 2015 were included in this retrospective single center study. The patients who received and did not receive nifedipine during the Doppler US comprised the study and control groups, respectively.

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.

Objective: Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders.

Methods: We enrolled participants with CP and "CP masquerading" conditions in an institutional ES initiative.