A Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.

Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.

Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.

Glycemic control after aortic valve replacement: A retrospective study.

Background: Aortic stenosis (AS) is treated through transcatheter aortic valve implantation (TAVI) or surgical aortic valve replacement (SAVR), with diabetes being prevalent among these patients. Inflammation participates in the pathogenesis of AS, and emerging evidence suggests that TAVI may exert anti-inflammatory effects. Given the established link between diabetes and inflammation, we sought to evaluate the impact of aortic valve replacement (AVR) on glycemic control.

Effects of vitamin D supplementation on cardiac biomarkers: Results from the STURDY trial.

Objectives: In observational studies, older adults with low serum vitamin D levels are at higher risk of cardiovascular disease (CVD), but randomized trials have failed to demonstrate reduction in CVD risk from vitamin D supplementation, possibly because the doses of vitamin D supplements tested were too low. Our objective was to determine if higher doses of vitamin D supplementation reduce high-sensitivity cardiac troponin (hs-cTnI) and N-terminal pro-b-type natriuretic peptide (NT-proBNP), markers of subclinical CVD.

Methods: The Study to Understand Fall Reduction and Vitamin D in You (STURDY) was a double-blind, randomized, response-adaptive trial that tested the effects of 4 doses of vitamin D3 supplementation (200, 1000, 2000, 4000 IU/day) on fall risk among older adults with low serum 25-hydroxyvitamin D concentrations (10-29 ng/mL).

Visual-textual integration in LLMs for medical diagnosis: A preliminary quantitative analysis.

Background And Aim: Visual data from images is essential for many medical diagnoses. This study evaluates the performance of multimodal Large Language Models (LLMs) in integrating textual and visual information for diagnostic purposes.

Methods: We tested GPT-4o and Claude Sonnet 3.

Evaluation of reporting trends in the MAUDE Database: 1991 to 2022.

Unlabelled: Adverse event reporting for medical devices is critical for risk mitigation. The Food and Drug Administration's (FDA) Manufacturer and User Facility Device Experience (MAUDE) database serves as a key tool for post-market surveillance, receiving reports from various sources. Ensuring information integrity, especially across diverse reporting sources, is paramount.

Long-term Impact of Carotid Endarterectomy on Choroidal and Choriocapillaris Perfusion: The INFLATE Study.

Purpose: When performed for clinically significant carotid artery stenosis (CAS), the long-term impact of carotid endarterectomy (CEA) on choroidal and choriocapillaris (CC) circulation was studied using swept-source OCT angiography.

Design: Prospective observational study.

Participants: Patients with clinically significant CAS undergoing unilateral CEA.

Septic arthritis of the temporomandibular joint-a case report and review of the literature.

Septic arthritis occurring in the temporomandibular joint (TMJ) has received significantly less attention than it deserves. This condition can severely compromise joint functionality, especially if left untreated. Its typical presentation includes pain, fever, swelling, and the loss of TMJ functions.

Label-free imaging flow cytometry for cell classification based directly on multiple off-axis holographic projections.

Significance: Imaging flow cytometry allows highly informative multi-point cell analysis for biological assays and medical diagnosis. Rapid processing of the imaged cells during flow allows real-time classification and sorting of the cells. Off-axis holography enables imaging flow cytometry without chemical cell staining but requires digital processing to the optical path delay profile for each frame before the cells can be classified, which slows down the overall processing throughput.

Sensitive ratiometric detection of Fumonisin B using a reusable Ag-pSi SERS platform.

Food and agricultural commodities endure consistent contamination by mycotoxins, low molecular weight fungal metabolites, which pose severe health implications to humans together with staggering economic losses. Herein, a ratiometric aptasensor was constructed using silver-coated porous silicon (Ag-pSi) used as an efficient surface-enhanced Raman scattering (SERS) substrate. The bioassay included direct detection of fumonisin B (FB), an abundant and widespread contaminant, by a specific aptamer sequence immobilized on the porous transducer.

De-novo Genome Assembly of the Edwardsiid Anthozoan Edwardsia elegans.

Cnidarians (sea anemones, corals, hydroids, and jellyfish) are a key outgroup for comparisons with bilaterial animals to trace the evolution of genomic complexity and diversity within the animal kingdom, as they separated from most other animals 100s of millions of years ago. Cnidarians have extensive diversity, yet the paucity of genomic resources limits our ability to compare genomic variation between cnidarian clades and species. Here we report the genome for Edwardsia elegans, a sea anemone in the most specious genus of the family Edwardsiidae, a phylogenetically important family of sea anemones that contains the model anemone Nematostella vectensis.

Balancing the risks: continuous vs. interrupted anticoagulation during TAVI - what does the evidence say?

Anticoagulation therapy is a critical component of post-transcatheter aortic valve implantation (TAVI) management, aimed at reducing the risk of thromboembolic events and mortality. This review examines the efficacy of continuous versus interrupted anticoagulation strategies in TAVI patients, focusing on mortality, stroke rates, and composite events. A literature review was conducted, analyzing recent studies that evaluate the impact of different anticoagulation regimens on clinical outcomes in TAVI patients.

Selective arm-usage of pre-miR-1307 dysregulates angiogenesis and affects breast cancer aggressiveness.

Background: Breast cancer is the leading cause of cancer-related mortality in women. Deregulation of miRNAs is frequently observed in breast cancer and affects tumor biology. A pre-miRNA, such as pre-miR-1307, gives rise to several mature miRNA molecules with distinct functions.

A handheld milk conductivity sensing device (Mylee) for measuring secretory activation progress in lactating women: a device validation study.

Background: Human milk electrolytes are known biomarkers of stages of lactation in the first weeks after birth. However, methods for measuring milk electrolytes are available only in laboratory or expert settings. A small handheld milk sensing device (Mylee) capable of determining on-site individual secretory activation progress from sensing the conductivity of a tiny milk specimen was developed.

A Dual-Pathway Responsive Mechanophore for Intelligent Luminescent Polymer Materials.

Mechanoluminescent units, when integrated into polymer matrices, undergo structural transformations in response to mechanical force, resulting in changes in fluorescence. This phenomenon holds considerable promise for the development of stress-sensing materials. Despite the high demand for robust, tunable mechanoluminescent mechanophores for force assessment and smart force-responsive materials, strategies for their design and synthesis remain underdeveloped.

Hormone circuit explains why most HPA drugs fail for mood disorders and predicts the few that work.

Elevated cortisol in chronic stress and mood disorders causes morbidity including metabolic and cardiovascular diseases. There is therefore interest in developing drugs that lower cortisol by targeting its endocrine pathway, the hypothalamic-pituitary-adrenal (HPA) axis. However, several promising HPA-modulating drugs have failed to reduce long-term cortisol in mood disorders, despite effectiveness in other hypercortisolism conditions such as Cushing's syndrome.

Beta-tricalcium phosphate patient-specific gap implants in bilateral sagittal split osteotomy: an innovative treatment method to enhance the mandibular border contour. Part 1: concept and workflow.

Antegonial notching can occur after bilateral sagittal split osteotomy (BSSO) and may lead to unpleasant aesthetic outcomes in both young and older patients. This clinical study presents a new concept to potentially overcome this problem and describes the workflow. Beta-tricalcium phosphate patient-specific gap implants (β-TCP gap-PSIs) are biocompatible and resorbable bone grafts that are placed in the space of the osteotomy gap during orthognathic procedures; they are virtually planned and printed in 3D.

The effect of occlusion on the visual working memory pointer-system.

To access its online representations, visual working memory (VWM) relies on a pointer-system that creates correspondence between objects in the environment with their memory representations. This pointer-system allows VWM to modify its representations using a process called updating. When the pointer is invalidated, however, VWM triggers a process called resetting in which the no longer relevant representation and pointer are replaced.

Ramadan fasting and glycemic control in patients with type 2 diabetes: A real-world data analysis.

Objectives: The aim of this study is to assess the impact of Ramadan intermittent fasting on glycemic control in individuals diagnosed with type 2 diabetes.

Methods: This historical prospective study utilized electronic health records from a major state-mandated healthcare provider. The research sample included Muslim adults aged 40-70 years, who had been diagnosed with type 2 diabetes.

Metformin intake and risk of metabolic acidosis after radical cystectomy with urinary diversion: A comparative study using data from the TriNetX research network.

Purpose: To investigate the association of diabetes mellitus and metformin use with metabolic acidosis risk after radical cystectomy (RC) and urinary diversion for bladder cancer.

Materials And Methods: This retrospective cohort study used TriNetX Research Network data. Patients undergoing RC with continent diversion or ileal conduit for bladder cancer were identified using International Classification of Diseases, 10th Revision (ICD-10) and ICD-10 Procedure Coding System (ICD-10-PCS) codes.

Mastering the complexities of cancer nanomedicine with text mining, AI and automation.

In this contribution to the Orations - New Horizons of the Journal of Controlled Release, I present a personal perspective on the complexities of cancer nanomedicine and the approaches to master them. This oration draws mainly from my lab's journey to explore three transformative approaches to master complexities in the field: (1) leveraging text mining to construct dynamic knowledge bases for hypothesis generation in cell-specific drug delivery, (2) introducing the concept of meta-synergy to further optimize and classify multi-drug combinations across dimensions such as chemical loading, pharmacodynamics, and pharmacokinetics (3) utilizing automation to accelerate nanoparticle discovery with advanced screening methodologies such as aggregation-induced emission (AIE). I argue that by embracing complexity in nanomedicine, we can manifest new therapeutic possibilities, paving the way for more effective, precise, and adaptive treatment strategies.

Outcomes Following Fenestrated/Branched Endovascular Aortic Repair for Failed Open Infrarenal Aortic Repair Compared with Primary Fenestrated/Branched Endovascular Aortic Repair.

Objective: As aneurysmal disease is progressive, proximal disease progression and para-anastomotic aneurysms are complications experienced after open infrarenal abdominal aortic aneurysm repair (AAA). As such, fenestrated or branched endovascular repair (F/BEVAR) may be indicated in these patients. Data describing fenestrated endovascular aneurysm repair after prior open repair are limited to institutional databases.

Paracetamol prior to catheter balloon insertion for labor induction - A randomized controlled trial: paracetamol prior to catheter-balloon insertion for labor induction.

Background: Assessing maternal pain and satisfaction following administration of paracetamol vs. placebo prior to catheter balloon placement.

Methods: Primiparous women at term admitted for medically-indicated labor induction were randomized to receive intravenous paracetamol 1 gram in 100cc normal saline (N=71) or placebo of 100cc normal saline (N=70) prior to catheter balloon insertion.