Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL3.0DMDfv).

Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to both improve survival and optimise quality of life. Evaluating quality of life is nevertheless a major challenge.

Chiral molecule candidates for trapped ion spectroscopy by ab initio calculations: From state preparation to parity violation.

Parity non-conservation (PNC) due to the weak interaction is predicted to give rise to enantiomer dependent vibrational constants in chiral molecules, but the phenomenon has so far eluded experimental observation. The enhanced sensitivity of molecules to physics beyond the Standard Model (BSM) has led to substantial advances in molecular precision spectroscopy, and these may be applied to PNC searches as well. Specifically, trapped molecular ion experiments leverage the universality of trapping charged particles to optimize the molecular ion species studied toward BSM searches, but in searches for PNC, only a few chiral molecular ion candidates have been proposed so far.

Contrast-Enhanced Imaging of Histotripsy Bubble Clouds Using Chirp-Coded Excitation and Volterra Filtering.

Histotripsy is a focused ultrasound therapy that ablates tissue via bubble cloud activity. Real-time ultrasound image guidance is used to ensure safe and effective treatment. Plane-wave imaging enables tracking of histotripsy bubble clouds at a high frame rate but lacks adequate contrast.

Community Case Study: The Role of Live-Interactive Learning Network in Addressing Community Wide Information Needs Through Show-Me COVID-19 ECHO.

After the COVID-19 pandemic reached Missouri, the Show-Me ECHO (Extension for Community Healthcare Outcomes) project initiated COVID-19 ECHO virtual knowledge-sharing networking sessions. These live-interactive weekly sessions inform participants about up-to-date evidence-based recommendations and guidelines through expert didactic lectures followed by real-life case discussions. We conducted a qualitative analysis of pre-session surveys and questions asked during sessions to learn about information needs of community members during first months of public health emergency.

Novel axial dynamic mechanical analysis setup for thermo-analytical study and curing kinetics optimization of thermoset adhesives.

Thermo-analytical studies of thermoset adhesives, either during research and development or in quality assurance activities, involve the application of various analytical equipment for adhesive characterization, from initial mixing to final product decomposition. Gelation is usually measured with rheometers or dynamic mechanical analyzers (DMAs); curing, post-curing, and curing kinetics are often studied using differential scanning calorimetry (DSC). Glass transition temperature (T) is measured via DSC or DMA, and finally, thermal decomposition measurements are done using thermal gravimetric analysis.

Use, cost-effectiveness, and end user perspectives of a home solar lighting intervention in rural Uganda: a mixed methods, randomized controlled trial.

Energy poverty is prevalent in resource-limited settings, leading households to use inefficient fuels and appliances that contribute to household air pollution. Randomized controlled trials of household energy interventions in low and middle income countries have largely focused on cooking services. Less is known about the adoption and impact of clean lighting interventions.

Effect of a solar lighting intervention on fuel-based lighting use and exposure to household air pollution in rural Uganda: A randomized controlled trial.

Solar lighting is an alternative to polluting kerosene and other fuel-based lighting devices relied upon by millions of families in resource-limited settings. Whether solar lighting provides sustained displacement of fuel-based lighting sources and reductions in personal exposure to fine particulate matter (PM . ) and black carbon (BC) has not been examined in randomized controlled trials.

ECHO Autism: Evaluation of Participants' Perceptions of Collaborative Telementoring Network.

Primary care clinicians report inadequate training and lack of support regarding identification of early signs of Autism Spectrum Disorder (ASD), resulting in later diagnosis and poor outcomes. The objective of this study was to evaluate the perception of participants in ECHO Autism project regarding the value of the virtual collaborative as a mentoring tool. We completed a retrospective cross-sectional study of post-virtual clinic surveys of all participants who attended Autism ECHO from September 2, 2015 to June 5, 2019.

Histotripsy Bubble Cloud Contrast With Chirp-Coded Excitation in Preclinical Models.

Histotripsy is a focused ultrasound therapy for tissue ablation via the generation of bubble clouds. These effects can be achieved noninvasively, making sensitive and specific bubble imaging essential for histotripsy guidance. Plane-wave ultrasound imaging can track bubble clouds with an excellent temporal resolution, but there is a significant reduction in echoes when deep-seated organs are targeted.

Estimating the mechanical energy of histotripsy bubble clouds with high frame rate imaging.

Mechanical ablation with the focused ultrasound therapy histotripsy relies on the generation and action of bubble clouds. Despite its critical role for ablation, quantitative metrics of bubble activity to gauge treatment outcomes are still lacking. Here, plane wave imaging was used to track the dissolution of bubble clouds following initiation with the histotripsy pulse.

Melanoma Extension for Community Healthcare Outcomes: A Feasibility Study of Melanoma Screening Implementation in Primary Care Settings.

Introduction Melanoma incidence rates are rising faster than the rates of any other malignancy. As a major global public health concern, melanoma can be identified by a visual exam not requiring expensive invasive procedures. However, non-dermatologists lack specialized training and skills to identify high-risk patients and implement melanoma skin screenings during regular exams.

Patient and Provider Satisfaction With Pediatric Urology Telemedicine Clinic.

The use of telemedicine continues to grow as more patients are receptive to this innovative way of providing health care. Multiple publications in telemedicine indicated high satisfaction for this service. This study focuses on the use of telemedicine in a pediatric urology clinic and examines 3 research questions: (1) How did patients' parents/guardians feel about their video appointments? (2) What were the experiences of novice telemedicine providers conducting postsurgical appointments via video? and (3) How did novice telemedicine providers' experiences compare to those of expert telemedicine providers?

Clinical findings influencing time to menarche post gonadotropin-releasing hormone agonist therapy in central precocious puberty.

Purpose: This study aimed to evaluate the time interval to menarche after gonadotropin-releasing hormone agonist (GnRHa) treatment in females with central precocious puberty (CPP) and to identify factors contributing to timing of menarche.

Methods: We retrospectively reviewed medical records of 39 females with CPP who reached menarche after GnRHa treatment (leuprolide or histrelin). CPP diagnostic criteria were breast development at <8 years old, measurable pubertal luteinizing hormone and/or estradiol concentrations, and bone age advancement.

Similarities and Differences Between Rural and Urban Telemedicine Utilization.

Telemedicine has traditionally been used in rural areas, but the recent development of mHealth solutions has led to a growth in urban telemedicine services. The aim of this study was to determine whether urban and rural patients in a large academic medical center use telemedicine to access different healthcare specialties at different rates. This retrospective cohort study examined all telemedicine visits dated 2008-2017 at a large academic medical center.

Evaluation of Patient Perceptions With Orthopedic Oncology Telehealth: A Pilot Project.

Telehealth has been used for decades to improve access to care for rural and underserved patients. The adoption of telehealth in orthopedic oncology is novel and expected to positively impact patient access and compliance. However, no previous evaluation has been published of this expected impact.

Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy.

Background: Antifungals act on fungal sterols structurally similar to human cholesterol. Ketoconazole reversibly suppresses steroidogenesis by inhibiting cytochrome P450 enzymes and interferes with dihydrotestosterone (DHT) activity by binding to the androgen receptor. Hypospadias was reported in infants exposed to nystatin in utero.

Assessing Impact of Show-Me ECHO on the Health of Missourians: Two Examples.

Show Me ECHO is a model for interprofessional collaboration that utilizes telehealth technologies to share evidence-based medical knowledge to improve patient outcomes and minimize variation in care for underserved populations. To measure ECHO outcomes, Show Me ECHO develops both an evaluation of clinical outcomes for patients as well as assessing learner outcomes on the Kirkpatrick Typology of Evaluation. This paper describes evaluation models for Dermatology and Childhood Asthma ECHOs.

Accelerating Care Through ECHO: Case Examples from the Field.

In this article, we describe three life-changing patient cases demonstrating high-quality and timely care they received in their communities, thanks to the Show-Me ECHO project. Early autism diagnosis, a potentially deadly tumor manifesting as a benign-looking rash, a recalcitrant case of hepatitis C: rural and underserved Missourians now have access to state-of-the-art care through their local providers receiving interdisciplinary telementoring on evidence based practices.

Telehealth and Telemedicine in Missouri.

Missouri is a national leader in telemedicine, and the Missouri Telehealth Network has led operational, legal and regulatory, and research and evaluation efforts since 1994. Telehealth and telemedicine have the potential to increase access to and efficiency of healthcare delivery, improve quality, and improve patient outcomes. Coverage and reimbursement rules vary by regulator, and Missouri enjoys a broad statutory definition of telehealth coverage and reimbursement parity (no distinction between in-person and telehealth services).

The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemia.

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, and implementation of risk-adapted therapy has been instrumental in the dramatic improvements in clinical outcomes. A key to risk-adapted therapies includes the identification of genomic features of individual tumors, including chromosome number (for hyper- and hypodiploidy) and gene fusions, notably ETV6-RUNX1, TCF3-PBX1, and BCR-ABL1 in B-cell ALL (B-ALL). RNA-sequencing (RNA-seq) of large ALL cohorts has expanded the number of recurrent gene fusions recognized as drivers in ALL, and identification of these new entities will contribute to refining ALL risk stratification.

Peak Growth Hormone Response to Combined Stimulation Test in 315 Children and Correlations with Metabolic Parameters.

Background/aims: Studies are lacking regarding the timing of peak growth hormone (PGH) response. We aim to elucidate the timing of PGH response to arginine and levodopa (A-LD) and evaluate the influence of body mass index (BMI) and other metabolic parameters on PGH.

Methods: During growth hormone (GH) stimulation testing (ST) with A-LD, serum GH was measured at baseline and every 30 min up to 180 min.

Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?

Cortisol and growth hormone (GH) deficiencies are causes of neonatal hypoglycemia. When they coexist, a pituitary disorder is suspected. We present an infant with hypoglycemia in whom an ACTH receptor defect was associated with transient GH deficiency.

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations.

Introduction: Arthrogryposis is a descriptive term defining a sign. It describes a set of joint contractures, sometimes identifiable in utero, present from birth and nonprogressive. This term includes a heterogeneous group of diseases, of neurological, neuromuscular, genetic or mechanical origin.

Circulating tumour DNA reflects treatment response and clonal evolution in chronic lymphocytic leukaemia.

Several novel therapeutics are poised to change the natural history of chronic lymphocytic leukaemia (CLL) and the increasing use of these therapies has highlighted limitations of traditional disease monitoring methods. Here we demonstrate that circulating tumour DNA (ctDNA) is readily detectable in patients with CLL. Importantly, ctDNA does not simply mirror the genomic information contained within circulating malignant lymphocytes but instead parallels changes across different disease compartments following treatment with novel therapies.

[Fragile X syndrome and white matter abnormalities: Case study of two brothers].

Fragile X syndrome is the most usual cause of hereditary intellectual deficiency. Typical symptoms combine intellectual deficiency, social anxiety, intense emotional vigilance, and a characteristic facial dysmorphy. This is subsequent to a complete mutation of the FMR1 gene, considering a semidominant transmission linked to the unstable X.