A Primer for Utilizing Deep Learning and Abdominal MRI Imaging Features to Monitor Autosomal Dominant Polycystic Kidney Disease Progression.

Abdominal imaging of autosomal dominant polycystic kidney disease (ADPKD) has historically focused on detecting complications such as cyst rupture, cyst infection, obstructing renal calculi, and pyelonephritis; discriminating complex cysts from renal cell carcinoma; and identifying sources of abdominal pain. Many imaging features of ADPKD are incompletely evaluated or not deemed to be clinically significant, and because of this, treatment options are limited. However, total kidney volume (TKV) measurement has become important for assessing the risk of disease progression (i.e., Mayo Imaging Classification) and predicting tolvaptan treatment's efficacy. Deep learning for segmenting the kidneys has improved these measurements' speed, accuracy, and reproducibility. Deep learning models can also segment other organs and tissues, extracting additional biomarkers to characterize the extent to which extrarenal manifestations complicate ADPKD. In this concept paper, we demonstrate how deep learning may be applied to measure the TKV and how it can be extended to measure additional features of this disease.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B [1-4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals. In this larger cohort of 96 people, we identify causative missense, synonymous, and stop-loss variants. We also expand upon the phenotypic characterization by elaborating on the neurodevelopmental component of BLBS. Notably, phenotypic heterogeneity was present even amongst individuals harboring the same variant. To explore the complex phenotypic variation in this expanded cohort, the relationships between syndromic phenotypes with three variables of interest were interrogated: sex, gene containing the causative variant, and variant location in the H3.3 protein. While specific genotype-phenotype correlations have not been conclusively delineated, the results presented here suggest that the location of the variants within the H3.3 protein and the affected gene (H3-3A or H3-3B) contribute more to the severity of distinct phenotypes than sex. Since these variables do not account for all BLBS phenotypic variability, these findings suggest that additional factors may play a role in modifying the phenotypes of affected individuals. Histones are poised at the interface of genetics and epigenetics, highlighting the potential role for gene-environment interactions and the importance of future research.

Size Matters: How to Characterize ADPKD Severity by Measuring Total Kidney Volume.

Following patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) has been challenging because serum biomarkers such as creatinine often remain normal until relatively late in the disease [...].

Increasing colorectal cancer screening orders using unlicensed assistive personnel.

Background: Colorectal cancer (CRC) is among the leading cancer diagnoses affecting both men and women worldwide. Prevention and early detection of CRC is possible by increasing access to and utilisation of screening tests. Although CRC screening is highly recommended, screening rates remain suboptimal in the USA, particularly among underserved populations. Our project site, an urban federally qualified health centre, was not meeting the national screening target of 80% of eligible adults. Objective: The aim of this quality improvement project was to increase the number of orders for CRC screening to eligible patients by using unlicensed assistive personnel and automated telephone outreach calls to offer 100 patients CRC screening during an 8-week period. Methods: 40 patients received outreach calls from care coordinators (CC). 40 patients received automated telephone call reminders to call a CC to obtain an order for CRC screening. 20 patients were offered CRC screening by a medical assistant (MA) as part of their scheduled office visits. We used two plan-do-study-act (PDSA) cycles to deliver these three screening interventions. Results: A total of 100 patients received one of the interventions. Ten of those patients received an order for either colonoscopy or faecal immunochemical testing by the conclusion of the second PDSA cycle. The MA-offered screening resulted in the highest percentage of patients accepting CRC screenings and patients preferred this outreach approach compared with CC outreach or automated voice messages. CC outreach yielded a lower rate of accepted screenings. None of the patients who received the automated calls followed up to obtain a screening order. Conclusion: Our project demonstrates that unlicensed assistive personnel have the potential to increase patient access to CRC screening.

Early season crow mortality as a sentinel for West Nile virus disease in humans, northeastern United States.

The 1999 New York epidemic of human West Nile virus (WN) encephalitis and meningitis was preceded by a crow die-off also caused by WN infection. As one component of the subsequently developed national surveillance system, crow mortality data were collected to detect WN activity before humans might become infected. However, predicting areas at risk for human WN disease likely requires assessment of multiple factors, including the intensity and timing of crow epizootics. To identify early season measures of WN activity in crows associated with subsequent WN disease in humans, county-level crow mortality data from seven northeastern states were analyzed. A predictive model was developed based on analysis of 2000 surveillance data and then assessed for 2001. To characterize the intensity of early season WN activity in crows, 15 variables were constructed from surveillance data of 52 counties that tested at least four crows during the early season (defined as June 17-July 28, 2000). County values for each variable were dichotomized at the 75th percentile into "high" and "low" activity. Multivariate analysis indicated that "high" early season activity of two variables-density of reported dead crow sightings (reported dead crows/area) and [(WN-infected crows/tested crows) x (human population)]--were associated with report of at least one human WN disease case (for each variable: adjusted odds ratio, 6.9; 95% confidence interval, 1.2-40.6). An assessment of this model using 2001 surveillance data from 61 counties yielded similar findings. With emphasis on early season WN activity, crow surveillance may allow timely targeting of interventions to protect the public health.

Neurogenic motor evoked potentials: role in brachial plexus surgery. Case report.

Peripheral nerve graft repair after severe brachial plexus injury is futile if there is degeneration of motor fibers in the proximal nerve stump to which the graft must be attached. Traditional intraoperative neurophysiological assessment methods like nerve action potential (NAP) and somatosensory evoked potential (SSEP) monitoring have been used to evaluate proximal nerve stump integrity, but these methods do not allow evaluation of the integrity of motor fibers back to the anterior horn cell. Consequently, the authors used transcranial electrical stimulation and recorded neurogenic motor evoked potentials (MEPs) directly from the brachial plexus in a patient undergoing surgical repair of a complete upper brachial plexus injury (Erb palsy) to assess the functional continuity of motor fibers. In addition, selected elements of the brachial plexus were directly stimulated, and NAPs were recorded. Finally, SSEPs were recorded from the scalp after stimulation of selected elements of the brachial plexus. Neurogenic MEPs were present from the medial cord of the brachial plexus, but not the middle or upper trunk; NAPs were present from the lateral and posterior cords after middle trunk stimulation, but absent after upper trunk stimulation; and SSEPs were present after medial cord stimulation but absent after stimulation of the upper and middle trunks. For the first time, neurogenic MEPs were coupled with NAPs and SSEPs to evaluate successfully the functional status of motor fibers back to the anterior horn cell for accurate localization of the lesion sites.