Genome sequencing reveals the impact of pseudoexons in rare genetic disease.

Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.

Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.

Drug-Eluting Resorbable Scaffold Versus Balloon Angioplasty for Below-the-Knee Peripheral Artery Disease: 2-Year Results From the LIFE-BTK Trial.

Background: Limited treatment options exist for infrapopliteal disease in patients with chronic limb-threatening ischemia (CLTI), a condition associated with a high risk of limb loss. Interventional management of diseased infrapopliteal vessels with percutaneous transluminal angioplasty (PTA) is associated with high rates of restenosis and reintervention. In the LIFE-BTK trial, the drug-eluting resorbable scaffold (DRS) demonstrated superior 12-month efficacy compared with PTA in a selected CLTI population with predominantly noncomplex, mildly to moderately calcified lesions.

Clinical and Dermoscopic Characterization of Scalp Cutaneous Metastases From Breast Carcinoma: A Multicenter Study of the EADV Task Force on Hair Diseases.

Introduction: Cutaneous scalp metastases from breast carcinoma (CMBC) represent an uncommon manifestation of metastatic disease, with heterogeneous clinical presentations, including nodular or infiltrative lesions and scarring alopecia (alopecia neoplastica). The absence of standardized diagnostic criteria, particularly for alopecic phenotypes, poses challenges to early recognition of CMBC, which may represent either the first indication of neoplastic progression or a late recurrence.

Materials And Methods: We retrospectively analyzed a multicenter cohort of 15 patients with histologically confirmed CMBC.

Performance of vision language models for optic disc swelling identification on fundus photographs.

Introduction: Vision language models (VLMs) combine image analysis capabilities with large language models (LLMs). Because of their multimodal capabilities, VLMs offer a clinical advantage over image classification models for the diagnosis of optic disc swelling by allowing a consideration of clinical context. In this study, we compare the performance of non-specialty-trained VLMs with different prompts in the classification of optic disc swelling on fundus photographs.

Cold Agglutinin Disease in the Setting of Pancreatic Adenocarcinoma.

Unlabelled: Autoimmune haemolytic anaemia (AIHA) is caused by antibody-mediated destruction of red blood cells. There are two broad categories of AIHA: warm and cold, both categorized by the thermal reactivity of the autoantibodies. Cold agglutinin disease (CAD) occurs at temperatures below normal body temperature and primarily involves IgM antibodies.

Plants, Pills, and the Brain: Exploring Phytochemicals and Neurological Medicines.

Neurological disorders, such as Alzheimer's disease, Parkinson's disease, epilepsy, spinal cord injuries, and traumatic brain injuries, represent substantial global health challenges due to their chronic and often progressive nature. While allopathic medicine offers a range of pharmacological interventions aimed at managing symptoms and mitigating disease progression, it is accompanied by limitations, including adverse side effects, the development of drug resistance, and incomplete efficacy. In parallel, phytochemicals-bioactive compounds derived from plants-are receiving increased attention for their potential neuroprotective, antioxidant, and anti-inflammatory properties.

Construction of Silver-Calcium Micro-Galvanic Cell on Titanium for Immunoregulation Osteogenesis.

This work aims to construct a functional titanium surface with spontaneous electrical stimulation for immune osteogenesis and antibacteria. A silver-calcium micro-galvanic cell was engineered on the titanium implant surface to spontaneously generate microcurrents for osteoimmunomodulation and bacteria killing, which provides a promising strategy for the design of a multifunctional electroactive titanium implant. Titanium-based implants are usually bioinert, which often leads to inflammation-induced loosening.

Machine learning predicts improvement of functional outcomes in spinal cord injury patients after inpatient rehabilitation.

Introduction: Spinal cord injury (SCI) presents a significant burden to patients, families, and the healthcare system. The ability to accurately predict functional outcomes for SCI patients is essential for optimizing rehabilitation strategies, guiding patient and family decision making, and improving patient care.

Methods: We conducted a retrospective analysis of 589 SCI patients admitted to a single acute rehabilitation facility and used the dataset to train advanced machine learning algorithms to predict patients' rehabilitation outcomes.

Impact of the ATM/Chk2 pathway and cell cycle phase on radiation-induced senescence in A549 human lung cancer cells.

Cell senescence is a state of stable proliferation arrest characterized by morphological changes and high senescence-associated β-galactosidase (SA-β-gal) activity. Inducing senescence in cancer cells is beneficial for cancer therapy due to proliferation arrest, however, the mechanisms underlying this process remain insufficiently understood. Therefore, the present study investigated the mechanisms of radiation-induced cellular senescence in A549 human lung cancer cells, focusing on the DNA damage response and cell cycle regulation.

Neural dynamics of proactive and reactive cognitive control in medial and lateral prefrontal cortex.

Goal-directed behavior requires adjusting cognitive control, both in preparation for and in reaction to conflict. Theta oscillations and population activity in dorsomedial prefrontal cortex (dmPFC) and dorsolateral PFC (dlPFC) are known to support reactive control. Here, we investigated their role in proactive control using human intracranial electroencephalogram (EEG) recordings during a Stroop task that manipulated conflict expectations.

5-HMF plays an intervention role in ischemic stroke by regulating GluR2 to improve mitochondrial function and promote angiogenesis.

Introduction: 5-Hydroxymethyl furfural (5-HMF) is a furan compound with a molecular formula of CHO. Studies have found that 5-HMF has many pharmacological effects, such as improving hemorheology, anti-inflammatory, antioxidant activity and anti-myocardial ischemia. Identifying the preventive effect of 5-HMF against ischemic stroke and its possible mechanism was the aim of this investigation.

Maximizing theoretical and practical storage capacity in single-layer feedforward neural networks.

Artificial neural networks are limited in the number of patterns that they can store and accurately recall, with capacity constraints arising from factors such as network size, architectural structure, pattern sparsity, and pattern dissimilarity. Exceeding these limits leads to recall errors, eventually leading to catastrophic forgetting, which is a major challenge in continual learning. In this study, we characterize the theoretical maximum memory capacity of single-layer feedforward networks as a function of these parameters.

Reciprocated tachycardias in cardiac laminopathy: a clinical case report.

Background: Cardiac laminopathies, associated with mutations in the LMNA gene, are a rare inherited disorder characterized by a broad range of clinical manifestations. There are currently no data on the association between supraventricular re-entrant tachycardias and LMNA-related cardiomyopathy.

Case Summary: A 26-year-old male presented with either wide-QRS tachycardia with a left bundle branch block (LBBB) pattern or narrow QRS tachycardia, as well as a history of palpitations since age 15.

Is -Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry.

modulates presynaptic Ca1.3 Ca channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in are associated with non-syndromic hearing loss (DFNB93).

Tuberous breast deformity in a transgender woman: a case report.

Tuberous breast deformity was first documented by Rees and Aston in 1976. The deformity is well documented in cisgender women, with rare cases in cisgender men often associated with gynecomastia, and almost no reports in transgender women. Herein, we present a case of a 32-year-old transgender woman who developed bilateral tuberous breast deformity after 10 years of hormone replacement therapy.

Mn(ii) betadiketonates: structural diversity from deceptively minor alterations to synthetic protocols.

In the context of the importance of manganese β-diketonates as precursors for the preparation of manganese oxide thin films and nanostructured materials, we report synthetic protocols and pitfalls encountered in the preparation of a family of Mn(ii) complexes of two fluorinated β-diketonates, 1,1,1-trifluoroacetylacetonato- (tfac) and 1,1,1,5,5,5-hexafluoroacetylacetonato- (hfac). The synthetic conditions and crystal structures of six new complexes are reported, including a coordination polymer {K[Mn(tfac)]}, an unusual trinuclear complex Mn(tfac)(OH), and a series of mononuclear complexes with coordinated solvents tetrahydrofuran, 1,2-dimethoxyethane, water, and acetonitrile. The crystal structures of two known Mn(ii) complexes are also reported for completeness.

"Help with rowing the boat": Implementing and evaluating the Strengthening a Palliative Approach in Long-Term Care program in four Canadian provinces.

Background: Despite high mortality rates in long-term care (LTC), LTC homes continue to struggle to implement a palliative approach to care.

Objectives: The objective of this research was to implement and evaluate the Strengthening a Palliative Approach in Long-Term Care (SPA-LTC; www.spaltc.

Exceptional Response to Immunotherapy-based Treatment in Compound -Mutated Oligometastatic Pulmonary Sarcomatoid Carcinoma: A Case Report.

Pulmonary sarcomatoid carcinoma (PSC) is a rare and aggressive subtype of non-small cell lung cancer (NSCLC) with limited treatment options and poor prognosis. mutations generally respond to tyrosine kinase inhibitors (TKIs)-based targeted therapy but are typically associated with resistance to immunotherapy. We report a case of oligometastatic PSC harboring compound mutations (p.

Haptic-Optic Fractures in Yamane Flanged Intrascleral Fixated Lenses: A Case Series.

Purpose: To report five cases of structural weakness at the haptic-optic junction of the CT Lucia 602 intraocular lens (IOL) (Carl Zeiss Meditec Inc., Dublin, CA), including two optic breakages and three optic microfractures, while using the Yamane flanged intrascleral haptic fixation surgery (FIHFS).

Methods: A retrospective chart review of five cases that underwent Yamane FIHFS by the same surgeon between 2020 and 2022 was performed.

Clam research in Nunavut: A scoping review of the literature.

Clams are an important country food with cultural, environmental, and health significance for Inuit communities in Nunavut. We analyzed the extent, range, and nature of published research on clams in Nunavut, Canada. We used a systematic and transparent scoping review methodology by applying a search string across three databases to identify potentially relevant articles.

Convenient alternative synthesis of the -derived virulence factor malassezione and related compounds.

Lipophilic yeasts of the genus are commensal fungi that constitute the normal skin microbiota but may become pathogenic. These fungi, especially , convert tryptophan into various alkaloid indoles such as malassezione, which may serve as virulence factors. To facilitate testing of malassezione as an aryl hydrocarbon receptor agonist and potential glucokinase activator, we developed a convenient synthetic route from commercially available indole-3-acetic acid.

Analytical validation of a flow cytometric method for the detection and quantification of canine mast cells in peripheral blood, bone marrow, and lymph node.

Mast cell tumors (MCTs) are the most common skin neoplasms in dogs and exhibit highly variable biological behavior. Metastasis primarily affects the lymph nodes, though less frequently, MCTs can infiltrate the spleen, liver, peripheral blood, and bone marrow. Flow cytometry of fine needle aspirate samples represents a non-invasive diagnostic procedure that has shown promise for detecting and quantifying mast cells in primary tumors and lymph nodes.