PB-Motif-A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping.

Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with conventional short read methods. These difficult to sequence regions include several clinically relevant genes with highly homologous pseudogenes, many of which are prone to gene conversions or other types of complex structural rearrangements. We present PB-Motif, a new method for identifying rearrangements between two highly homologous genomic regions using PacBio long reads.

Uniquely pediatric upper extremity injuries.

The pediatric population is prone to unique upper extremity injuries that are not typically seen in adults. The normal dynamic maturation pattern of ossification centers and open physis can potentially confuse radiologists who are not familiar with the pediatric patients. In this review article, we discuss the normal anatomy and commonly encountered acute and chronic upper extremity injuries such as supracondylar distal humeral fracture and osteochondritis dissecans, in pediatric patients.

Time-Driven Cost Analysis of Noncuffed Venous Catheter Placement in Infants: Bedside versus IR Suite.

Purpose: To compare the direct bundled costs of interventional radiology (IR) suite versus bedside placement of noncuffed central venous catheters in infants.

Methods: A single-center retrospective review was performed of all noncuffed upper extremity (peripherally inserted central venous catheter [PICC]) and tunneled femoral (tunneled femoral central venous catheter [TCVC]) catheters placed in infants between January 1, 2018, and December 31, 2018. Propensity score matching was performed adjusting for age, birth weight, procedure weight, and catheter days.

Real-time navigation guidance with intraoperative CT imaging for pedicle screw placement using an augmented reality head-mounted display: a proof-of-concept study.

Objective: Augmented reality (AR) has the potential to improve the accuracy and efficiency of instrumentation placement in spinal fusion surgery, increasing patient safety and outcomes, optimizing ergonomics in the surgical suite, and ultimately lowering procedural costs. The authors sought to describe the use of a commercial prototype Spine AR platform (SpineAR) that provides a commercial AR head-mounted display (ARHMD) user interface for navigation-guided spine surgery incorporating real-time navigation images from intraoperative imaging with a 3D-reconstructed model in the surgeon's field of view, and to assess screw placement accuracy via this method.

Methods: Pedicle screw placement accuracy was assessed and compared with literature-reported data of the freehand (FH) technique.

A phase I study of the anaplastic lymphoma kinase inhibitor ceritinib in combination with gemcitabine-based chemotherapy in patients with advanced solid tumors.

In this phase I, dose-escalation study, we sought to determine the maximum tolerated dose (MTD) of the anaplastic lymphoma kinase/c-ROS oncogene 1 receptor (ALK/ROS1) inhibitor ceritinib in combination with gemcitabine-based chemotherapy in patients with advanced solid tumors. Secondary objectives were characterization of the safety profile, pharmacokinetics and preliminary efficacy of these combinations, and identification of potential biomarkers of efficacy. Ceritinib was combined with gemcitabine (Arm 1), gemcitabine/nab-paclitaxel (Arm 2) or gemcitabine/cisplatin (Arm 3).

Clinical Spectrum, Molecular Characterization, Antifungal Susceptibility Testing of spp. From India and Description of a Novel Species sp. nov.

Introduction: spp. are important opportunist pathogens causing subcutaneous or even fatal disseminated infections in otherwise both immunosuppressed and healthy individuals but there are no systematic studies on the isolates of species from India.

Methods: Twenty-four isolates of species were retrieved from the National Culture Collection of Pathogenic Fungi (NCCPF) and identified phenotypically and by molecular methods (ITS region sequencing) followed by antifungal susceptibility testing (AFST) as per CLSI-M38A3 guidelines.

Selective therapeutic strategy for p53-deficient cancer by targeting dysregulation in DNA repair.

Breast carcinomas commonly carry mutations in the tumor suppressor p53, although therapeutic efforts to target mutant p53 have previously been unfruitful. Here we report a selective combination therapy strategy for treatment of p53 mutant cancers. Genomic data revealed that p53 mutant cancers exhibit high replication activity and express high levels of the Base-Excision Repair (BER) pathway, whereas experimental testing showed substantial dysregulation in BER.

Activity of novel lactone ketolide nafithromycin against multicentric invasive and non-invasive pneumococcal isolates collected in India.

Background: India is among the nations reporting substantial healthcare burden linked to pneumococcal infections. Nafithromycin is a novel lactone ketolide antibiotic, which recently entered Phase 3 development in India for the indication of community-acquired bacterial pneumonia (CABP).

Objectives: To assess the activity of nafithromycin against serotyped invasive and non-invasive isolates, collected from nine medical centres across India.

A Novel Algorithm Using Within-leg Calibration for Enhanced Accuracy of Detection of Arthritis by Infrared Thermal Imaging in Children.

Objective: To standardize and improve the accuracy of detection of arthritis by thermal imaging.

Methods: Children with clinically active arthritis in the knee or ankle, as well as healthy controls, were enrolled to the development cohort; another group of children with knee symptoms was enrolled to the validation cohort. Ultrasound was performed in the arthritis subgroup for the development cohort.

Detection of Hepatocellular Carcinoma in a High-Risk Population by a Mass Spectrometry-Based Test.

Hepatocellular carcinoma (HCC) is one of the fastest growing causes of cancer-related death. Guidelines recommend obtaining a screening ultrasound with or without alpha-fetoprotein (AFP) every 6 months in at-risk adults. AFP as a screening biomarker is plagued by low sensitivity/specificity, prompting interest in discovering alternatives.

Impact of Chorea on Self-care Activity, Employment, and Health-care Resource Use in Patients with Huntington's Disease.

Chorea is recognized as a prototypic motor feature of Huntington's disease (HD), but its effect on health-related quality of life (HRQoL) has not been fully explored. This study describes the impact of chorea on HRQoL in patients with HD. To determine the impact of HD-related chorea on employment, self-care activities, activities of daily living, and health-care resource utilization (HCRU).

Characterizing the electrophysiological abnormalities in visually reviewed normal EEGs of drug-resistant focal epilepsy patients.

Routine scalp EEG is essential in the clinical diagnosis and management of epilepsy. However, a normal scalp EEG (based on expert visual review) recorded from a patient with epilepsy can cause delays in diagnosis and clinical care delivery. Here, we investigated whether normal EEGs might contain subtle electrophysiological clues of epilepsy.

Pediatric rib pathologies: clinicoimaging scenarios and approach to diagnosis.

Pathologies involving the ribs are diverse in nature, including entities specific to the pediatric population as well as shared pathologies with adults. These can be either localized within or adjacent to the rib, but may also cause rib alteration as a component of a systemic process. To better understand these disorders, we discuss several common rib pathologies in the context of their clinical presentation and pertinent imaging findings.

Endoscopic transnasal/transoral odontoid resection in children: results of a combined neurosurgical and otolaryngological protocolized, institutional approach.

Objective: Odontogenic ventral brainstem compression can be a source of significant morbidity in patients with craniocervical disease. The most common methods for odontoidectomy are the transoral and endoscopic endonasal routes. In this study, the authors investigated the use of an institutional protocol for endoscopic transnasal/transoral odontoidectomy in the pediatric population.

A multicenter validation of the condylar-C2 sagittal vertical alignment in Chiari malformation type I: a study using the Park-Reeves Syringomyelia Research Consortium.

Objective: The condylar-C2 sagittal vertical alignment (C-C2SVA) describes the relationship between the occipitoatlantal joint and C2 in patients with Chiari malformation type I (CM-I). It has been suggested that a C-C2SVA ≥ 5 mm is predictive of the need for occipitocervical fusion (OCF) or ventral brainstem decompression (VBD). The authors' objective was to validate the predictive utility of the C-C2SVA by using a large, multicenter cohort of patients.

Association of Follicular Fluid Advanced Glycation End-Products with Oocyte Response and Clinical Pregnancy in Assisted Reproduction Cycles.

Context: Advanced glycation end-products (AGEs) are toxic metabolic end-products of lipids, nucleic acids, and proteins. Their accumulation in the ovaries can alter the follicular microenvironment and affect stimulation response.

Aims: We aimed to study the association of AGEs in follicular fluid (FF AGE) with oocyte response and clinical pregnancy in ART-Assisted Reproductive Technology cycles.

Intracerebral Hemorrhage in Patients With COVID-19: An Analysis From the COVID-19 Cardiovascular Disease Registry.

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β-Defensins from common goby (Pomatoschistus microps) and silver trevally (Pseudocaranx georgianus): Molecular characterization and phylogenetic analysis.

Antimicrobial peptides (AMPs) are biologically active molecules involved in host defense present in a variety of organisms. They are an integral component of innate immunity, forming a front line of defense against potential pathogens, including antibiotic-resistant ones. Fishes are proven to be a prospective source of AMPs as they are constantly being challenged by a variety of pathogens and the AMPs are reported to play an inevitable role in fish immunity.

The current and future roles of artificial intelligence in pediatric radiology.

Artificial intelligence (AI) is a broad and complicated concept that has begun to affect many areas of medicine, perhaps none so much as radiology. While pediatric radiology has been less affected than other radiology subspecialties, there are some well-developed and some nascent applications within the field. This review focuses on the use of AI within pediatric radiology for image interpretation, with descriptive summaries of the literature to date.

COVID-19 Surveillance for Local Decision Making : An Academic, School District, and Public Health Collaboration.

Objective: Data-informed decision making is valued among school districts, but challenges remain for local health departments to provide data, especially during a pandemic. We describe the rapid planning and deployment of a school-based COVID-19 surveillance system in a metropolitan US county.

Methods: In 2020, we used several data sources to construct disease- and school-based indicators for COVID-19 surveillance in Franklin County, an urban county in central Ohio.

Gadolinium retention: should pediatric radiologists be concerned, and how to frame conversations with families.

Gadolinium retention in the brain and other organs has recently been identified by imaging and confirmed histologically. No direct clinical effects of gadolinium retention, which occurs after gadolinium-based contrast agent (GBCA) administration for MRI, have been scientifically accepted at this time. However, there is understandable concern among medical professionals and the public about the potential effects of gadolinium retention, particularly in the brain.