CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) was added to the HHS Secretary's Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at the U.S.

Evaluating Virtual Contrast-Enhanced Magnetic Resonance Imaging in Nasopharyngeal Carcinoma Radiation Therapy: A Retrospective Analysis for Primary Gross Tumor Delineation.

Purpose: To investigate the potential of virtual contrast-enhanced magnetic resonance imaging (VCE-MRI) for gross-tumor-volume (GTV) delineation of nasopharyngeal carcinoma (NPC) using multi-institutional data.

Methods And Materials: This study retrospectively retrieved T1-weighted (T1w), T2-weighted (T2w) MRI, gadolinium-based contrast-enhanced MRI (CE-MRI), and planning computed tomography (CT) of 348 biopsy-proven NPC patients from 3 oncology centers. A multimodality-guided synergistic neural network (MMgSN-Net) was trained using 288 patients to leverage complementary features in T1w and T2w MRI for VCE-MRI synthesis, which was independently evaluated using 60 patients.

Pixelwise Gradient Model for Image Fusion (PGMIF): a multi-sequence magnetic resonance imaging (MRI) fusion model for tumor contrast enhancement of nasopharyngeal carcinoma.

Background: Different image modalities capture different aspects of a patient. It is desirable to produce images that capture all such features in a single image. This research investigates the potential of multi-modal image fusion method to enhance magnetic resonance imaging (MRI) tumor contrast and its consistency across different patients, which can capture both the anatomical structures and tumor contrast clearly in one image, making MRI-based target delineation more accurate and efficient.

Pixelwise Gradient Model with GAN for Virtual Contrast Enhancement in MRI Imaging.

: The development of advanced computational models for medical imaging is crucial for improving diagnostic accuracy in healthcare. This paper introduces a novel approach for virtual contrast enhancement (VCE) in magnetic resonance imaging (MRI), particularly focusing on nasopharyngeal cancer (NPC). : The proposed model, Pixelwise Gradient Model with GAN for Virtual Contrast Enhancement (PGMGVCE), makes use of pixelwise gradient methods with Generative Adversarial Networks (GANs) to enhance T1-weighted (T1-w) and T2-weighted (T2-w) MRI images.

Model Generalizability Investigation for GFCE-MRI Synthesis in NPC Radiotherapy Using Multi-Institutional Patient-Based Data Normalization.

Recently, deep learning has been demonstrated to be feasible in eliminating the use of gadoliniumbased contrast agents (GBCAs) through synthesizing gadolinium-free contrast-enhanced MRI (GFCE-MRI) from contrast-free MRI sequences, providing the community with an alternative to get rid of GBCAs-associated safety issues in patients. Nevertheless, generalizability assessment of the GFCE-MRI model has been largely challenged by the high inter-institutional heterogeneity of MRI data, on top of the scarcity of multi-institutional data itself. Although various data normalization methods have been adopted to address the heterogeneity issue, it has been limited to single-institutional investigation and there is no standard normalization approach presently.

Explainable machine learning via intra-tumoral radiomics feature mapping for patient stratification in adjuvant chemotherapy for locoregionally advanced nasopharyngeal carcinoma.

Purpose: This study aimed to discover intra-tumor heterogeneity signature and validate its predictive value for adjuvant chemotherapy (ACT) following concurrent chemoradiotherapy (CCRT) in locoregionally advanced nasopharyngeal carcinoma (LA-NPC).

Materials And Methods: 397 LA-NPC patients were retrospectively enrolled. Pre-treatment contrast-enhanced T1-weighted (CET1-w) MR images, clinical variables, and follow-up were retrospectively collected.

Multimodal Data Integration to Predict Severe Acute Oral Mucositis of Nasopharyngeal Carcinoma Patients Following Radiation Therapy.

(1) Background: Acute oral mucositis is the most common side effect for nasopharyngeal carcinoma patients receiving radiotherapy. Improper or delayed intervention to severe AOM could degrade the quality of life or survival for NPC patients. An effective prediction method for severe AOM is needed for the individualized management of NPC patients in the era of personalized medicine.

Radiomic feature repeatability and its impact on prognostic model generalizability: A multi-institutional study on nasopharyngeal carcinoma patients.

Background And Purpose: To investigate the radiomic feature (RF) repeatability via perturbation and its impact on cross-institutional prognostic model generalizability in Nasopharyngeal Carcinoma (NPC) patients.

Materials And Methods: 286 and 183 NPC patients from two institutions were included for model training and validation. Perturbations with random translations and rotations were applied to contrast-enhanced T1-weighted (CET1-w) MR images.

Quantitative Spatial Characterization of Lymph Node Tumor for N Stage Improvement of Nasopharyngeal Carcinoma Patients.

This study aims to investigate the feasibility of improving the prognosis stratification of the N staging system of Nasopharyngeal Carcinoma (NPC) from quantitative spatial characterizations of metastatic lymph node (LN) for NPC in a multi-institutional setting. A total of 194 and 284 NPC patients were included from two local hospitals as the discovery and validation cohort. Spatial relationships between LN and the surrounding organs were quantified by both distance and angle histograms, followed by principal component analysis.

Improving radiomic model reliability using robust features from perturbations for head-and-neck carcinoma.

Background: Using high robust radiomic features in modeling is recommended, yet its impact on radiomic model is unclear. This study evaluated the radiomic model's robustness and generalizability after screening out low-robust features before radiomic modeling. The results were validated with four datasets and two clinically relevant tasks.

A Multi-Center Study of CT-Based Neck Nodal Radiomics for Predicting an Adaptive Radiotherapy Trigger of Ill-Fitted Thermoplastic Masks in Patients with Nasopharyngeal Carcinoma.

Significant lymph node shrinkage is common in patients with nasopharyngeal carcinoma (NPC) throughout radiotherapy (RT) treatment, causing ill-fitted thermoplastic masks (IfTMs). To deal with this, an ad hoc adaptive radiotherapy (ART) may be required to ensure accurate and safe radiation delivery and to maintain treatment efficacy. Presently, the entire procedure for evaluating an eligible ART candidate is time-consuming, resource-demanding, and highly inefficient.

Multi-Organ Omics-Based Prediction for Adaptive Radiation Therapy Eligibility in Nasopharyngeal Carcinoma Patients Undergoing Concurrent Chemoradiotherapy.

Purpose: To investigate the role of different multi-organ omics-based prediction models for pre-treatment prediction of Adaptive Radiotherapy (ART) eligibility in patients with nasopharyngeal carcinoma (NPC).

Methods And Materials: Pre-treatment contrast-enhanced computed tomographic and magnetic resonance images, radiotherapy dose and contour data of 135 NPC patients treated at Hong Kong Queen Elizabeth Hospital were retrospectively analyzed for extraction of multi-omics features, namely Radiomics (R), Morphology (M), Dosiomics (D), and Contouromics (C), from a total of eight organ structures. During model development, patient cohort was divided into a training set and a hold-out test set in a ratio of 7 to 3 20 iterations.

Pretreatment Prediction of Adaptive Radiation Therapy Eligibility Using MRI-Based Radiomics for Advanced Nasopharyngeal Carcinoma Patients.

Adaptive radiotherapy (ART) can compensate for the dosimetric impacts induced by anatomic and geometric variations in patients with nasopharyngeal carcinoma (NPC); Yet, the need for ART can only be assessed during the radiation treatment and the implementation of ART is resource intensive. Therefore, we aimed to determine tumoral biomarkers using pre-treatment MR images for predicting ART eligibility in NPC patients prior to the start of treatment. Seventy patients with biopsy-proven NPC (Stage II-IVB) in 2015 were enrolled into this retrospective study.

Dosimetric verification and quality assurance of running-start-stop (RSS) delivery in tomotherapy.

The purpose of this study was to evaluate the dosimetric profiles and delivery accuracy of running-start-stop (RSS) delivery in tomotherapy and to present initial quality assurance (QA) results on the accuracy of the dynamic jaw motion, dosimetric penumbrae of the RSS dynamic jaw and the static jaw were measured by radiographic films. Delivery accuracy of the RSS was evaluated by gamma analysis on film measurements of 12 phantom plans. Consistency in the performance of RSS was evaluated by QA procedures over the first nine months after the installation of the feature.

MALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots.

Background: A hemizygous deletion of 1.5-3 Mb in 22q11.2 causes a distinct clinical syndrome with variable congenital defects.

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.

Background: Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect severe combined immunodeficiency (SCID) has been implemented in public health laboratories in the last 5 years.

Dosimetric difference amongst 3 techniques: TomoTherapy, sliding-window intensity-modulated radiotherapy (IMRT), and RapidArc radiotherapy in the treatment of late-stage nasopharyngeal carcinoma (NPC).

To investigate the dosimetric difference amongst TomoTherapy, sliding-window intensity-modulated radiotherapy (IMRT), and RapidArc radiotherapy in the treatment of late-stage nasopharyngeal carcinoma (NPC). Ten patients with late-stage (Stage III or IV) NPC treated with TomoTherapy or IMRT were selected for the study. Treatment plans with these 3 techniques were devised according to departmental protocol.

Radiation injury of the parotid glands during treatment for head and neck cancer: assessment using dynamic contrast-enhanced MR imaging.

The parotid gland is an important organ at risk of complications of radiotherapy for head and neck cancer. In this study, we examined the potential of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) for assessment of radiation injury to the parotid glands. DCE-MRI was performed before and 3 months after radiotherapy in patients treated for head and neck cancer.

Dynamic contrast enhancement magnetic resonance imaging (DCE-MRI) for differential diagnosis in head and neck cancers.

Purpose: To examine the potential of dynamic contrast enhanced magnetic resonance imaging (DCE-MRI) for differential diagnosis of head and neck cancer.

Methods And Materials: DCE-MRI was performed in 26 patients with untreated squamous cell carcinoma (SCC), 28 undifferentiated carcinoma (UD) and 8 lymphoma. DCE-MRI was analyzed with the pharmacokinetic model proposed by Tofts and Kermode to produce the three DCE parameters: k(trans), v(e) and v(p).

Limited evolution of human immunodeficiency virus type 1 in the thymus of a perinatally infected child.

Background: Involvement of the thymus during human immunodeficiency virus (HIV) infection may impair production of naive lymphocytes leading to more rapid depletion, but the characteristics of primary strains in the thymus are not well studied because of the unavailability of tissue in living individuals.

Methods: We studied the characteristics of HIV type 1 (HIV-1) in a 5-year old perinatally infected child with thymitis and compared the genomic sequences of the HIV-1 C2-V5 region of the env gene in the thymic tissue and peripheral blood.

Results: The thymus harbored predominantly viral sequences close to the founder HIV-1 variant that circulated in the blood at 2 and 3 months of age, whereas the peripheral blood virus at 5 years of age had evolved extensively.

Sexually transmissible infections and prostate cancer risk.

Background: Sexually transmissible infections (STI) have been variably associated with increased risks of prostate cancer, largely in case-control studies.

Methods: In the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, we examined risk of prostate cancer in relation to serum antibodies to Chlamydia trachomatis, human papillomavirus-16 and -18, herpes simplex virus-2, cytomegalovirus, and human herpesvirus-8 in 868 cases (765 Whites and 103 Blacks) and 1,283 controls matched by race, age, time since initial screening, and year of blood draw; all blood samples were collected at least 1 year before prostate cancer diagnosis, except for 43 Black cases. We also assessed risk associated with self-reported history of syphilis and gonorrhea.

Risk factors for incident herpes simplex type 2 virus infection among women attending a sexually transmitted disease clinic.

Objectives: To estimate the incidence of herpes simplex type 2 virus (HSV-2) infection, to identify risk factors for its acquisition, and to assess the protective effect of condoms.

Study Design: Prospective study of 293 HSV-2 seronegative women, aged 18 to 35 years, attending a sexually transmitted disease clinic in Alabama from 1992 to 1995.

Results: Incidence of HSV-2 infection was 20.

Rapid human immunodeficiency virus testing in labor and delivery: a comparison of implementation models between 2 hospitals.

Despite the use of antiretroviral medications during the antenatal/perinatal period, 280 to 370 human immunodeficiency virus (HIV)-infected infants are born each year in the United States. Women who might transmit the virus to their infants are (1) those not offered antenatal testing due to perceived low risk; (2) those who are noncompliant with their antiretroviral regimen; (3) those with prophylaxis failures despite good compliance; and (4) those who present late to delivery without prenatal care. The Centers for Disease Control and prevention sponsored MIRIAD (mother-infant rapid intervention at delivery) to study rapid testing of women who present late in pregnancy and/or to labor and delivery with unknown HIV status.

Seroprevalence of herpes simplex virus type 1 in children in the United States.

Objectives: To describe HSV-1 seroprevalence in children in the United States and to examine factors associated with herpes simplex virus type 1 (HSV-1) infection in children.

Study Design: Sera samples available from 2989 children age 6 to 13 years who participated in the National Health and Nutrition Examination Surveys (NHANES) 1999-2002 were tested for HSV-1 antibodies using a type-specific immunodot assay. HSV-1 seroprevalence in children age 12 to 13 years was compared with that reported in an earlier survey (NHANES 1988-1994).

Mother-to-child transmission of HIV-1: timing and implications for prevention.

This article provides a synthesis of clinical trial data with an aim to deduce the timing of mother-to-child transmission of HIV-1. Because transmission of the infection to the infant through breastfeeding is one of the main challenges in fighting paediatric HIV/AIDS in the developing world, we present separate estimates for the timing of HIV transmission for non-breastfeeding and breastfeeding populations. Our estimates predict that, for non-breastfeeding populations, 50% of HIV infections are transmitted to the infant at the very end of pregnancy, near to the time of labour.