Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.

Three-dimensional single-cell transcriptome imaging of thick tissues.

Multiplexed error-robust fluorescence in situ hybridization (MERFISH) allows genome-scale imaging of RNAs in individual cells in intact tissues. To date, MERFISH has been applied to image thin-tissue samples of ~10 µm thickness. Here, we present a thick-tissue three-dimensional (3D) MERFISH imaging method, which uses confocal microscopy for optical sectioning, deep learning for increasing imaging speed and quality, as well as sample preparation and imaging protocol optimized for thick samples.

Baseline dermoscopic patterns predict long-term changes in nevus diameter and in dermoscopic features.

Background: When monitoring melanocytic neoplasms, the pattern of change may distinguish nevi from melanoma. Anticipating the growth dynamics of nevi based on their dermoscopic pattern is important to make this distinction.

Objective: The primary aim was to examine the association between nevus dermoscopic pattern at baseline and diameter change during long-term monitoring.

Effect of patient-contextual skin images in human- and artificial intelligence-based diagnosis of melanoma: Results from the 2020 SIIM-ISIC melanoma classification challenge.

Background: While the high accuracy of reported AI tools for melanoma detection is promising, the lack of holistic consideration of the patient is often criticized. Along with medical history, a dermatologist would also consider intra-patient nevi patterns, such that nevi that are different from others on a given patient are treated with suspicion.

Objective: To evaluate whether patient-contextual lesion-images improves diagnostic accuracy for melanoma in a dermoscopic image-based AI competition and a human reader study.

Psoas Muscle Volume as an Indicator of Sarcopenia and Disposition in Traumatic Hip Fracture Patients.

Introduction: Sarcopenia, or the loss of lean muscle mass, is associated with increased morbidity and mortality as well as poor surgical outcomes. The aim of our study was to utilize computed tomography imaging to obtain the total psoas volume (TPV) as a potential marker of sarcopenia. We then investigated the relationship between TPV and outcomes in surgically managed hip fracture patients, particularly their discharge disposition.

Evaluation of the Distal Extent of Visualization Using Volar Approaches for Fixation of Distal Radius Fractures.

Purpose: Distal radius fractures may include difficult-to-treat fractures of the volar ulnar corner, colloquially termed as the "critical corner." These fragments are problematic because they are often missed, and their fixation is difficult. We aimed to compare the distal extent of the exposure of the volar surface of the distal radius between the classic Henry approach and the extended flexor carpi radialis (EFCR) approach.

Laboratory profiles of patients hospitalized with COVID-19 pneumonia treated with tofacitinib or placebo: a post hoc analysis from the STOP-COVID trial.

Objective: Tofacitinib, an oral Janus kinase inhibitor, has been tested against a placebo in 289 patients with COVID-19 pneumonia. We analyzed the data from the tofacitinib- and placebo-treated patient cohorts to evaluate the laboratory profiles between baseline and day 7.

Methods: We performed post hoc analyses on the following laboratory tests over time during the first 7 days after randomization: hemoglobin, leukocytes, neutrophils, lymphocytes, platelets, alanine aminotransferase, and aspartate aminotransferase.

Tranexamic Acid Is Not Associated With a Change in Infection Risk in Trauma Patients.

Introduction: Tranexamic acid (TXA) has been used as an adjunct in traumatic hemorrhage management. Outside of trauma, TXA has been used to limit blood loss across multiple surgical fields. TXA has also been found to have an immune-modulating effect, reducing postoperative infection rates.

The SLICE-3D dataset: 400,000 skin lesion image crops extracted from 3D TBP for skin cancer detection.

AI image classification algorithms have shown promising results when applied to skin cancer detection. Most public skin cancer image datasets are comprised of dermoscopic photos and are limited by selection bias, lack of standardization, and lend themselves to development of algorithms that can only be used by skilled clinicians. The SLICE-3D ("Skin Lesion Image Crops Extracted from 3D TBP") dataset described here addresses those concerns and contains images of over 400,000 distinct skin lesions from seven dermatologic centers from around the world.

Play it again, but more sadly: Influence of timbre, mode, and musical experience in melody processing.

The emotional properties of music are influenced by a host of factors, such as timbre, mode, harmony, and tempo. In this paper, we consider how two of these factors, mode (major vs. minor) and timbre interact to influence ratings of perceived valence, reaction time, and recognition memory.

Care Patterns and Barriers to Outpatient Care for Adults With AML Following Intensive Chemotherapy at NCCN Member Institutions.

Background: Prolonged hospitalization following intensive (re)induction chemotherapy for acute myeloid leukemia (AML), while standard, is costly and resource intense, limits inpatient bed capacity, and negatively impacts quality of life. Early hospital discharge (EHD) following completion of chemotherapy has proven safe as an alternative at select institutions, but is not widely implemented.

Patients And Methods: From February 2023 through May 2023, the NCCN Best Practices Committee conducted a survey evaluating AML hospitalization patterns, care models, and barriers to EHD at its 33 member institutions.

Evaluation of somatic copy number variation detection by NGS technologies and bioinformatics tools on a hyper-diploid cancer genome.

Background: Copy number variation (CNV) is a key genetic characteristic for cancer diagnostics and can be used as a biomarker for the selection of therapeutic treatments. Using data sets established in our previous study, we benchmark the performance of cancer CNV calling by six most recent and commonly used software tools on their detection accuracy, sensitivity, and reproducibility. In comparison to other orthogonal methods, such as microarray and Bionano, we also explore the consistency of CNV calling across different technologies on a challenging genome.

BCN20000: Dermoscopic Lesions in the Wild.

Advancements in dermatological artificial intelligence research require high-quality and comprehensive datasets that mirror real-world clinical scenarios. We introduce a collection of 18,946 dermoscopic images spanning from 2010 to 2016, collated at the Hospital Clínic in Barcelona, Spain. The BCN20000 dataset aims to address the problem of unconstrained classification of dermoscopic images of skin cancer, including lesions in hard-to-diagnose locations such as those found in nails and mucosa, large lesions which do not fit in the aperture of the dermoscopy device, and hypo-pigmented lesions.

Narrative analysis in individuals with Parkinson's disease following intensive voice treatment: secondary outcome variables from a randomized controlled trial.

Communication is often impaired in individuals with Parkinson's disease (PD), typically secondary to sensorimotor deficits impacting voice and speech. Language may also be diminished in PD, particularly for production and comprehension of verbs. Evidence exists that verb processing is influenced by motor system modulation suggesting that verb deficits in PD are underpinned by similarities in the neural representations of actions that span motor and semantic systems.

Composition of the Water Dimer and the Heterodimers of Water with N and O in Earth's Atmosphere.

The mole fractions χ and number concentrations of the water dimer and the heterodimers HO-N and HO-O in Earth's atmosphere are reported up to 20 km. The water dimer data is obtained from published values of the equilibrium constant based on the water equation of state. The mixed equilibrium constants for the heterodimers are obtained from the respective second virial coefficients using an approach introduced by Stogryn and Hirschfelder that extracts the components pertaining to pairwise interactions producing bound and metastable dimers.

International Skin Imaging Collaboration-Designated Diagnoses (ISIC-DX): Consensus terminology for lesion diagnostic labeling.

Background: A common terminology for diagnosis is critically important for clinical communication, education, research and artificial intelligence. Prevailing lexicons are limited in fully representing skin neoplasms.

Objectives: To achieve expert consensus on diagnostic terms for skin neoplasms and their hierarchical mapping.

Dose-Adjusted EPOCH Plus Inotuzumab Ozogamicin in Adults With Relapsed or Refractory B-Cell ALL: A Phase 1 Dose-Escalation Trial.

Importance: Options for adults with relapsed or refractory B-cell acute lymphoblastic leukemia or lymphoma (B-ALL) are limited, and new approaches are needed. Inotuzumab ozogamicin (InO) has been combined with low-intensity chemotherapy, with modest improvements over historical controls, and dose-adjusted etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin (DA-EPOCH) treatment is safe and active for newly diagnosed ALL.

Objective: To assess the safety and clinical activity of DA-EPOCH and InO in adults with relapsed or refractory B-ALL.

Intensive Reinduction Chemotherapy Followed by Early Allogeneic Hematopoietic Cell Transplantation for Relapsed/Refractory High-Grade Myeloid Neoplasms.

Outcomes for adults with relapsed/refractory (R/R) high-grade myeloid neoplasms remain poor, with allogeneic hematopoietic cell transplantation (HCT) the sole therapy likely to result in cure. We conducted the present study to determine the feasibility of early HCT-within 60 days of beginning reinduction chemotherapy-to see whether getting patients to HCT in an expeditious manner would expand the number of patients being offered this curative option. In this proof-of-principle feasibility study, we included adults age 18 to 75 years with R/R myeloid malignancies with ≥10% blood/marrow blasts at diagnosis who were eligible for a reduced-intensity HCT.

Trends in minimally invasive and open inguinal hernia repair: an analysis of ACGME general surgery case logs.

Background: Groin hernia repair is one of the most commonly performed surgical procedures and is often performed by surgical interns and junior residents. While traditionally performed open, minimally invasive (MIS) groin hernia repair has become an increasingly popular approach. The purpose of this study was to determine the trends in MIS and open inguinal and femoral hernia repair in general surgery residency training over the past two decades.

The Internal Joint Stabilizer of the Elbow: A Systematic Review of the Clinical and Biomechanical Evidence.

Purpose: The goal of surgical management for unstable elbow injuries is the restoration of joint concentricity and stability. After internal fixation, concerns may exist regarding instability or durability of the fixation construct. Historically, these scenarios were treated with options such as transarticular pinning or external fixation.