SJPedPanel: A Pan-Cancer Gene Panel for Childhood Malignancies to Enhance Cancer Monitoring and Early Detection.

Purpose: The purpose of the study was to design a pan-cancer gene panel for childhood malignancies and validate it using clinically characterized patient samples.

Experimental Design: In addition to 5,275 coding exons, SJPedPanel also covers 297 introns for fusions/structural variations and 7,590 polymorphic sites for copy-number alterations. Capture uniformity and limit of detection are determined by targeted sequencing of cell lines using dilution experiment.

SJPedPanel: A pan-cancer gene panel for childhood malignancies.

Background: Large scale genomics projects have identified driver alterations for most childhood cancers that provide reliable biomarkers for clinical diagnosis and disease monitoring using targeted sequencing. However, there is lack of a comprehensive panel that matches the list of known driver genes. Here we fill this gap by developing SJPedPanel for childhood cancers.

Dynamics of Age- versus Therapy-Related Clonal Hematopoiesis in Long-term Survivors of Pediatric Cancer.

Unlabelled: We present the first comprehensive investigation of clonal hematopoiesis (CH) in 2,860 long-term survivors of pediatric cancer with a median follow-up time of 23.5 years. Deep sequencing over 39 CH-related genes reveals mutations in 15% of the survivors, significantly higher than the 8.

Effects of Unilateral Hearing Loss on Speech-Evoked Auditory Brainstem Responses and Reading: A Preliminary Study.

Purpose: The purpose of this study was to determine whether the speech-evoked auditory brainstem responses (sABRs) obtained by stimulating the ear with normal sensitivity in children with unilateral hearing loss (UHL) were different from that of children with normal hearing (NH), and to explore correlations between the sABR findings and measures of reading.

Method: Eleven children with UHL and 11 children with NH were tested via the BioMARK sABR protocol using the syllable /da/; latency and amplitudes of Waves V, A, C, D, E, F, and O were measured. Participants also were tested on the Phonemic Synthesis Test (PST) and the Woodcock Reading Mastery Test-Revised (WRMT-R), particularly the Reading Readiness, Basic Skills, and Comprehension subtests.

A Novel Locus on 6p21.2 for Cancer Treatment-Induced Cardiac Dysfunction Among Childhood Cancer Survivors.

Background: Adult survivors of childhood cancer are at increased risk of cardiac late effects.

Methods: Using whole-genome sequencing data from 1870 survivors of European ancestry in the St. Jude Lifetime Cohort (SJLIFE) study, genetic variants were examined for association with ejection fraction (EF) and clinically assessed cancer therapy-induced cardiac dysfunction (CCD).

Genome-wide association studies identify novel genetic loci for epigenetic age acceleration among survivors of childhood cancer.

Background: Increased epigenetic age acceleration (EAA) in survivors of childhood cancer is associated with specific treatment exposures, unfavorable health behaviors, and presence of certain chronic health conditions. To better understand inter-individual variability, we investigated the genetic basis underlying EAA.

Methods: Genome-wide association studies of EAA based on multiple epigenetic clocks (Hannum, Horvath, PhenoAge, and GrimAge) were performed.

Tracking nonliteral language processing using audiovisual scenarios.

Recognizing sarcasm and jocularity during face-to-face communication requires the integration of verbal, paralinguistic, and nonverbal cues, yet most previous research on nonliteral language processing has been carried out using written or static stimuli. In the current study, we examined the processing of dynamic literal and nonliteral intentions using eye tracking. Participants ( = 37) viewed short, ecologically valid video vignettes and were asked to identify the speakers' intention.

Three Cases of Recovery from Sensorineural Hearing Loss in the First Year of Life: Implications for Monitoring and Management.

Background: Three infants with different risk factors, behavioral and physiologic audiometric histories, and diagnoses were fit with amplification between 3 and 8 months of age. Two of the three met criteria for cochlear implantation.

Purpose: This article aims to heighten awareness of the rare possibility of recovery from sensorineural hearing loss in infants with varying histories and emphasize the importance of a full diagnostic test battery in all infants diagnosed with sensorineural hearing loss every 3 months until objective and subjective thresholds are stable to ensure appropriate intervention.

Epigenetic Age Acceleration and Chronic Health Conditions Among Adult Survivors of Childhood Cancer.

Background: Mounting evidence supports the occurrence of accelerating aging among long-term survivors of childhood cancer. We aimed to investigate epigenetic age acceleration (EAA) in survivors and evaluate associations between EAA, treatment exposures, health behaviors, and chronic health conditions (CHCs).

Methods: Genome-wide methylation data were generated with Infinium EPIC BeadChip on blood-derived DNA from 2139 survivors and 282 frequency matched controls from the St Jude Lifetime Cohort Study.

Nodes of Ranvier in Glaucoma.

Retinal ganglion cell axons of the DBA/2J mouse model of glaucoma, a model characterized by extensive neuroinflammation, preserve synaptic contacts with their subcortical targets for a time after onset of anterograde axonal transport deficits, axon terminal hypertrophy, and cytoskeletal alterations. Though retrograde axonal transport is still evident in these axons, it is unknown if they retain their ability to transmit visual information to the brain. Using a combination of in vivo multiunit electrophysiology, neuronal tract tracing, multichannel immunofluorescence, and transmission electron microscopy, we report that eye-brain signaling deficits precede transport loss and axonal degeneration in the DBA/2J retinal projection.

Detection of Deafness in Puppies Using a Hand-Held Otoacoustic Emission Screener.

The purpose of this study was to evaluate the use of a hand-held otoacoustic emissions screener to detect deafness in puppies. Specifically, distortion product otoacoustic emissions were recorded from 34 puppies (both sexes) of a variety of breeds, from 6-10 wk of age, and the results were compared to brainstem auditory evoked responses (BAER) recorded from the same puppies. Recordings were obtained from both ears in awake or lightly anesthetized puppies, and the results from each ear were compared.

Attenuation of PKR-like ER Kinase (PERK) Signaling Selectively Controls Endoplasmic Reticulum Stress-induced Inflammation Without Compromising Immunological Responses.

Inflammation and endoplasmic reticulum (ER) stress are associated with many neurological diseases. ER stress is brought on by the accumulation of misfolded proteins in the ER, which leads to activation of the unfolded protein response (UPR), a conserved pathway that transmits signals to restore homeostasis or eliminate the irreparably damaged cell. We provide evidence that inhibition or genetic haploinsufficiency of protein kinase R-like endoplasmic reticulum kinase (PERK) can selectively control inflammation brought on by ER stress without impinging on UPR-dependent survival and adaptive responses or normal immune responses.

Serial auditory-evoked potentials in the diagnosis and monitoring of a child with Landau-Kleffner syndrome.

Background: A boy, aged 2 1/2 yr, experienced sudden deterioration of speech and language abilities. He saw multiple medical professionals across 2 yr. By almost 5 yr, his vocabulary diminished from 50 words to 4, and he was referred to our speech and hearing center.

A comparison of video versus conventional visual reinforcement in 7- to 16-month-old infants.

Purpose: To compare response patterns to video visual reinforcement audiometry (VVRA) and conventional visual reinforcement audiometry (CVRA) in infants 7-16 months of age.

Method: Fourteen normal-hearing infants aged 7-16 months (8 male, 6 female) participated. A repeated measures design was used.

A four-pass high resolution spectrometer for the near infrared.

A high resolution Littrow type grating spectrometer designed for four-pass operation in the near ir is described. Using 20-cm gratings, four passed in first and second orders, this instrument achieves a spectral resolution between 0.015 cm(-1) and 0.

Infrared Absorption Spectrum of Nitrous Oxide (NO) From 1830 cm to 2270 cm.

The frequencies of the vibration-rotation spectrum of NO have been measured from 1830 cm to 2270 cm. A number of weak bands have been measured and assigned to "hot bands'' and isotopic species in normal abundance. By using the Ritz principle and previously measured bands the bending frequency ( ) is calculated as 588.

Wavelength Calibrations in the Far Infrared (30 to 1000 Microns).

A discussion is presented of certain calibration procedures employed in the region 30 to 1000 microns. Calculated positions for the pure rotational absorption lines of the CO, HCN, and NO molecules are given, and a map of the pure rotational absorption lines of the HO molecule as recorded with a Perkin-Elmer model 301 spectrophotometer is shown.

Self-Broadening of Carbon Monoxide in the 2 and 3 Bands.

The self-broadening of carbon monoxide has been measured for the 2 and 3 bands with pressures up to 3.5 atmospheres. A grating spectrometer of high resolving power was used for the measurements and the correction for finite slits was small.

Infrared Spectrum of the + Band of CCH.

The infrared spectrum of the band of CCH has been analyzed and a value of = 0.64865 ±0.00005 cm determined.

Absorption Bands of Carbon Dioxide From 5.3 to 4.6 Microns.

Measurements have been made of the frequencies of the infrared absorption lines of CO in the region from 1850 cm to 2150 cm. Observations were made at various pressures and pathlengths up to a maximum of 72 meter-atmospheres. Vibration-rotation constants were obtained characterizing the transitions 11 0-000, 11 0-000, 03 0-000, 03 0-000, 200-01 0, I2 0-01 0, 12 0-01 0 for CO.

Broadening of the Rotational Lines of Carbon Monoxide by HCl and by Argon.

The present work deals with the broadening of rotational lines of the carbon monoxide 2-0 band by both argon and hydrogen chloride. A high resolution grating spectrometer with a spectral slit width of 0.07 cm was used, necessitating only a small correction in observed half-width values.

Analysis of Two Infrared Bands of CHD.

Two infrared absorption bands of CHD have been analyzed in the semirigid rotor approximation. These are the A-type band at 2671.67 cm and the C-type band at 4425.