Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.

Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.

Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.

Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation.

The California collaborative network to promote data driven care and improve outcomes in early psychosis (EPI-CAL) project: rationale, background, design and methodology.

Background: A prolonged first episode of psychosis (FEP) without adequate treatment is a predictor of poor clinical, functional, and health outcomes and significant economic burden. Team-based "coordinated specialty care" (CSC) for early psychosis (EP) has established effectiveness in promoting clinical and functional recovery. However, California's CSC program implementation has been unsystematic and could benefit from standardizing its processes and data collection infrastructure.

Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder.

Background: SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with neurodevelopmental disorders, sleep abnormalities have not been reported in SLC13A5 patients.

The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization.

TESS Research Foundation (TESS) is a patient-led nonprofit organization seeking to understand the basic biology and clinical impact of pathogenic variants in the SLC13A5 gene. TESS aims to improve the fundamental understanding of citrate's role in the brain, and ultimately identify treatments and cures for the associated disease. TESS identifies, organizes, and develops collaboration between researchers, patients, clinicians, and the pharmaceutical industry to improve the lives of those suffering from SLC13A5 citrate transport disorder.

Exploring Data Collection Priorities of Community Partners in Early Psychosis Care.

Objective: Learning health care networks can significantly improve the effectiveness, consistency, and cost-effectiveness of care delivery. As part of a data harmonization process, incorporation of the perspectives of community partners to maximize the relevance and utility of the data is critical.

Methods: A mixed-methods focus group study was conducted with early psychosis program providers, leadership, service users, and family members to explore their priorities regarding data collection in early psychosis care.

Incorporating Community Partner Perspectives on eHealth Technology Data Sharing Practices for the California Early Psychosis Intervention Network: Qualitative Focus Group Study With a User-Centered Design Approach.

Background: Increased use of eHealth technology and user data to drive early identification and intervention algorithms in early psychosis (EP) necessitates the implementation of ethical data use practices to increase user acceptability and trust.

Objective: First, the study explored EP community partner perspectives on data sharing best practices, including beliefs, attitudes, and preferences for ethical data sharing and how best to present end-user license agreements (EULAs). Second, we present a test case of adopting a user-centered design approach to develop a EULA protocol consistent with community partner perspectives and priorities.

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.

SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic disease that has a constellation of neurologic symptoms. To better characterize the neurologic and clinical laboratory phenotype, we utilized patient medical records collected by Ciitizen, an Invitae company, with support from the TESS Research Foundation. Medical records for 15 patients with a suspected genetic and clinical diagnosis of SLC13A5 citrate transporter disorder were collected by Ciitizen, an Invitae company.

AAPM task group report 305: Guidance for standardization of vendor-neutral reject analysis in radiography.

Reject rate analysis is considered an integral part of a diagnostic radiography quality control (QC) program. A rejected image is a patient radiograph that was not presented to a radiologist for diagnosis and that contributes unnecessary radiation dose to the patient. Reject rates that are either too high or too low may suggest systemic department shortcomings in QC mechanisms.

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of function pathogenic variants to the gene SLC13A5 that results in deficiency of the sodium/citrate cotransporter.

Growth and Overall Health of Patients with Citrate Transporter Disorder.

We were interested in elucidating the non-neurologic health of patients with autosomal recessive Citrate Transporter (NaCT) Disorder. Multiple variants have been reported that cause a loss of transporter activity, resulting in significant neurologic impairment, including seizures, as well as motor and cognitive dysfunction. Additionally, most patients lack tooth enamel (amelogenesis imperfecta).

Stretch-Induced Intimal Failure in Isolated Cerebral Arteries as a Function of Development.

Recent clinical studies have shown that traumatic brain injury is a significant risk factor for stroke. Motivated to better understand possible mechanisms of this association, we studied subfailure disruption of the intima in overstretched sheep cerebral arteries, as this has been implicated in the increased risk of stroke following blunt cerebrovascular injury. Middle cerebral arteries from four age groups (ranging from fetal to adult) were stretched axially to failure, and intimal disruption was captured with a video camera.

Rare and Complicated Overlap of Stevens-Johnson Syndrome and Acute Generalized Exanthematous Pustulosis.

Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) and acute generalized exanthematous pustulosis (AGEP) are two separate pathological entities of severe cutaneous adverse reactions (SCARs) with different etiologies and treatment strategies. Diagnosis is, however, complicated by the similarity in their clinical presentation. Although there are few claims of AGEP-SJS/TEN overlap, a simultaneous true overlap of SJS/TEN and AGEP has rarely been described in the literature.

Care partner-assisted intervention to improve oral health for older adults with cognitive impairment: A feasibility study.

Background And Objectives: Older adults with cognitive impairment often experience poor oral health outcomes due to inadequate oral hygiene practices. This pilot study aimed to evaluate the feasibility of a care partner-assisted intervention to improve the oral hygiene of community-dwelling older adults with cognitive impairment.

Material And Methods: The 6-month intervention included 25 older adults with mild dementia or mild cognitive impairment, who were randomly assigned to Treatment Group 1 or Treatment Group 2.

Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.

Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient's seizure burden, semiology, and electroencephalography (EEG) findings have not been well characterized. Data on 23 patients, 3 months to 29 years of age are reported.

Working together to learn new oral hygiene techniques: Pilot of a carepartner-assisted intervention for persons with cognitive impairment.

We pilot tested a carepartner-assisted intervention to improve oral hygiene in persons with cognitive impairment (participants) and help carepartners become leaders who can adapt approaches that foster participants' ability to develop new skills for oral hygiene care. Following the intervention, we conducted interviews with participants and carepartners to understand their challenges in working together to learn new oral hygiene skills. Participants reported challenges such as frustration using the electric toothbrush correctly, lack of desire to change, uncertainty about correctness of technique, and difficulty sustaining two minutes of toothbrushing.

A Mobile Health Platform for Clinical Monitoring in Early Psychosis: Implementation in Community-Based Outpatient Early Psychosis Care.

Background: A growing body of literature indicates that smartphone technology is a feasible add-on tool in the treatment of individuals with early psychosis (EP) . However, most studies to date have been conducted independent of outpatient care or in a research clinic setting, often with financial incentives to maintain user adherence to the technology. Feasibility of dissemination and implementation of smartphone technology into community mental health centers (CMHCs) has yet to be tested, and whether young adults with EP will use this technology for long periods of time without incentive is unknown.

Enhanced coronary calcium visualization and detection from dual energy chest x-rays with sliding organ registration.

We have developed a technique to image coronary calcium, an excellent biomarker for atherosclerotic disease, using low cost, low radiation dual energy (DE) chest radiography, with potential for widespread screening from an already ordered exam. Our dual energy coronary calcium (DECC) processing method included automatic heart silhouette segmentation, sliding organ registration and scatter removal to create a bone-image-like, coronary calcium image with significant reduction in motion artifacts and improved calcium conspicuity compared to standard, clinically available DE processing. Experiments with a physical dynamic cardiac phantom showed that DECC processing reduced 73% of misregistration error caused by cardiac motion over a wide range of heart rates and x-ray radiation exposures.

Enhancing early psychosis treatment using smartphone technology: A longitudinal feasibility and validity study.

Smartphone applications that promote symptom tracking and self-management may improve treatment of serious mental illness (SMI). Although feasibility has been established in chronic adult outpatient or inpatient SMI samples, no data exist regarding implementation of smartphone technology in adolescent and young adult populations as part of early psychosis (EP) outpatient care. We implemented a smartphone "app" plus clinician Dashboard as an add-on treatment tool in the University of California, Davis Early Psychosis Program.

Detection and quantification of coronary calcium from dual energy chest x-rays: Phantom feasibility study.

Purpose: We have demonstrated the ability to identify coronary calcium, a reliable biomarker of coronary artery disease, using nongated, 2-shot, dual energy (DE) chest x-ray imaging. Here we will use digital simulations, backed up by measurements, to characterize DE calcium signals and the role of potential confounds such as beam hardening, x-ray scatter, cardiac motion, and pulmonary artery pulsation. For the DE calcium signal, we will consider quantification, as compared to CT calcium score, and visualization.

School outbreak of Escherichia coli O157 with high levels of transmission, Staffordshire, England, February 2012.

Background: Verocytotoxin-producing Escherichia coli (VTEC) are bacteria that cause infectious gastroenteritis and in certain settings can cause widespread infection due to secondary transmission. We describe the findings of an investigation of a school-based outbreak of VTEC in Staffordshire, England.

Methods: Outbreak investigation at a school in February 2012 after two children were diagnosed with VTEC infection.

Development of Mechanical and Failure Properties in Sheep Cerebral Arteries.

Traumatic brain injury (TBI) is a devastating problem for people of all ages, but the nature of the response to such injury is often different in children than in adults. Cerebral vessel damage and dysfunction are common following TBI, but age-dependent, large-deformation vessel response has not been characterized. Our objective was to investigate the mechanical properties of cerebral arteries as a function of development.

Whole-Body Clinical Applications of Digital Tomosynthesis.

With flat-panel detector mammography, radiography, and fluoroscopy systems, digital tomosynthesis (DT) has been recently introduced as an advanced clinical application that removes overlying structures, enhances local tissue separation, and provides depth information about structures of interest by providing high-quality tomographic images. DT images are generated from projection image data, typically using filtered back-projection or iterative reconstruction. These low-dose x-ray projection images are easily and swiftly acquired over a range of angles during a single linear or arc sweep of the x-ray tube assembly.

Rapid draft sequencing and real-time nanopore sequencing in a hospital outbreak of Salmonella.

Background: Foodborne outbreaks of Salmonella remain a pressing public health concern. We recently detected a large outbreak of Salmonella enterica serovar Enteritidis phage type 14b affecting more than 30 patients in our hospital. This outbreak was linked to community, national and European-wide cases.

Initial clinical experience of the use of digital tomosynthesis in the assessment of suspected fracture neck of femur in the elderly.

Objective: This study was undertaken to evaluate the use of digital tomosynthesis (tomogram) for diagnosis of suspected fracture neck of femur (NOF). We hypothesised that the use of cross-sectional imaging (MRI/CT) could be reduced by using tomogram to separate the patients with suspected NOF fractures that require MRI/CT scan from those who do not.

Materials And Method: Forty-one patients with a clinically suspected NOF fracture, following trauma, with negative AP and lateral hip X-rays, underwent a hip tomogram examination.

Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain.

Clinical genetic studies have shown that loss of Nav1.7 function leads to the complete loss of acute pain perception. The global deletion is reported lethal in mice, however, and studies of mice with promoter-specific deletions of Nav1.