Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Race and ethnic disparities in rehabilitation services and functional recovery post-stroke.

Objective: To identify race/ethnic disparities in rehabilitation services after stroke and characterize the independent associations of each of race/ethnicity and rehabilitation to functional recovery post-stroke.

Methods: The Transitions of Care Stroke Disparities Study (TCSD-S) is a prospective cohort study designed to reduce disparities and to optimize the transitions of care for stroke survivors throughout the state of Florida. Participant characteristics were extracted from the American Heart Association's Get-With-The-Guidelines-Stroke dataset.

Effectiveness of a 5-day adapted swim instruction program for children with disabilities.

Background: Drowning is a leading cause of death for children. Some populations of children with disabilities, such as children with autism, experience a health disparity in drowning when compared to peers without disabilities.

Objective: This study presents a secondary data analysis of the response to intervention for a 5-day adapted swim instruction program (iCan Swim) for children with disabilities ( = 164 participants) ages 3-18 years.

Acute effects of Nordic hamstring exercise on ultrasound shear wave elastography.

Aim: The Nordic hamstring curl appears effective in reducing the incidence of injury in physically active young adults, likely through its capacity as an eccentric exercise to increase muscle stiffness. Although eccentric exercises have been shown to increase muscle stiffness, medium- and long-term Nordic hamstring curl training programs have not demonstrated an effect on muscle stiffness. This study examined the acute effects of a single session of Nordic hamstring curls on the stiffness of the biceps femoris, semitendinosus, and semimembranosus muscles using ultrasound shear wave elastography, an accepted method for measuring passive muscle stiffness.

Functional Radiosurgery in the Management of Cancer Pain: A Comprehensive Review.

Functional radiosurgery is a minimally invasive and highly precise approach to managing refractory cancer pain, offering targeted interventions for both nociceptive and neuropathic pain mechanisms. By focusing on key neuroanatomical targets, such as the thalamus, cingulate cortex, pituitary gland, celiac plexus, and dorsal root ganglia, functional radiosurgery provides effective relief for complex pain syndromes that are often unresponsive to conventional therapies. Advances in imaging and treatment delivery have enhanced the safety and efficacy of these techniques, allowing clinicians to tailor interventions to individual patients.

Assessment and treatment considerations for patients with colorectal liver metastases: AHPBA consensus guideline and update for surgeons.

Background: Colorectal cancer most commonly metastasizes to the liver. While various treatment strategies have been developed, surgical management of these patients has vital implications on the prognosis and survival of this group of patients. There remains a need for a consensus guideline regarding the surgical evaluation and management of patients with colorectal liver metastases (CRLM).

Image Guided Percutaneous Robotic Interventions for Solid Organs.

Robotic systems for minimally invasive procedures, particularly in interventional oncology, have advanced significantly, especially for percutaneous interventions guided by CT, Cone-beam CT, and MRI. These systems, which include needle-guiding and needle-driving robots, enhance the precision of procedures like biopsy and tumor ablation. Needle-guiding robots plan and align the needle, while needle-driving robots autonomously advance it, improving needle placement accuracy, enabling out-of-plane insertion, and reducing radiation exposure.

Outcomes of Augmented versus Standard Baseplates in Reverse Shoulder Arthroplasty.

Background: Glenoid bone loss presents a complex challenge in the management of patients with glenohumeral osteoarthritis (GHOA) undergoing Reverse Shoulder Arthroplasty (RSA). Eccentric reaming and bone grafting have been utilized to address this issue but are associated with their own set of challenges. This study explores the effectiveness of augmented glenoid baseplate RSA in addressing glenoid bone loss.

Distribution and bioconcentration of semivolatile organic compounds (SVOCs) in soils and vascular plant Colobanthus quitensis from Sub-Antarctic and Antarctic regions.

Semi-volatile organic compounds (SVOCs) are widely distributed across the globe, including polar regions. This study investigates the distribution and bioconcentration of organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), and polycyclic aromatic hydrocarbons (PAHs) in soils and Colobanthus quitensis, while also estimating potential emission sources. Results indicated high concentrations of PAHs in soils and plants from the Sub-Antarctic region, while OCPs and PCBs were more prevalent in the Antarctic region, with higher contaminant concentrations found in soils than in plant tissues.

Correlates of multicaregiving and singular caregiving among cancer caregivers and associations with caregiver well-being.

Purpose: Compare demographic, care provision, and health-related characteristics of individuals fulfilling multiple illness-related caregiving roles (i.e. multicaregiving) versus singular (cancer only) caregiving and investigate factors associated with caregivers' mental and physical functioning.

Novel bilayered zirconia systems using recycled 3Y-TZP for dental applications.

Objective: To synthesize bilayer zirconia systems based on commercial or recycled 3Y-TZP obtained from non-milled remnants and to compare their optical and mechanical properties before and after aging.

Methods: Bilayer zirconia samples were fabricated using either recycled 3Y-TZP (3Y-R/4Y and 3Y-R/5Y) or commercial powders (3Y/4Y and 3Y/5Y). Microstructure and phase composition were analyzed using ScanningElectronMicroscopy (SEM) and X-Ray Diffraction (XRD).

International Expert-Based Consensus Definition, Classification Criteria, and Minimum Data Elements for Osteoradionecrosis of the Jaw: An Inter-Disciplinary Modified Delphi Study.

Purpose: Osteoradionecrosis of the jaw (ORNJ) is a severe iatrogenic disease characterized by bone death after radiation therapy (RT) to the head and neck. With over 9 published definitions and at least 16 classification systems, the true incidence and severity of ORNJ are obscured by lack of a standard for disease definition and severity assessment, leading to inaccurate estimation of incidence, reporting ambiguity, and likely under-diagnosis worldwide. This study aimed to achieve consensus on an explicit definition and phenotype of ORNJ and related precursor states through data standardization to facilitate effective diagnosis, monitoring, and multidisciplinary management of ORNJ.

Fine-tuning of gene expression through the Mettl3-Mettl14-Dnmt1 axis controls ESC differentiation.

The marking of DNA, histones, and RNA is central to gene expression regulation in development and disease. Recent evidence links N6-methyladenosine (mA), installed on RNA by the METTL3-METTL14 methyltransferase complex, to histone modifications, but the link between mA and DNA methylation remains scarcely explored. This study shows that METTL3-METTL14 recruits the DNA methyltransferase DNMT1 to chromatin for gene-body methylation.

Low-grade gliomas presenting with hemorrhage: Are intratumoral blood products associated with malignant transformation?

Objective: Gliomas are the most common primary tumor in the central nervous system (CNS), with low-grade gliomas (LGG) comprising more than 5 percent of all adult primary CNS tumors. While glioblastoma, the most malignant glioma subtype, is known to present with hemorrhage, LGGs rarely present with hemorrhage. This systematic review investigates LGGs that present as hemorrhage and provides an illustrative case presentation in order to evaluate trends and outcomes for this pathology.

Using metabolic parameters to inform emergency care referral in a patient with a hyperglycemic induced acute kidney injury: a case report.

Objective: To describe the clinical reasoning and use of the American Diabetes Association (ADA) blood glucose and exercise guidelines in the face of an emerging acute glycemic crisis for a patient with type 2 diabetes mellitus receiving physical therapy for chronic ankle instability and fibromyalgia.

Case Description: Assessment of the patient's baseline blood glucose and ketone urinalysis revealed hyperglycemia and ketonuria, respectively. Shortly after testing, the patient became nauseous and vomited.

Epicardial adipose tissue, cardiac damage, and mortality in patients undergoing TAVR for aortic stenosis.

Computed tomography (CT)-derived Epicardial Adipose Tissue (EAT) is linked to cardiovascular disease outcomes. However, its role in patients undergoing Transcatheter Aortic Valve Replacement (TAVR) and the interplay with aortic stenosis (AS) cardiac damage (CD) remains unexplored. We aim to investigate the relationship between EAT characteristics, AS CD, and all-cause mortality.

Discordance, accuracy and reproducibility study of pathologists' diagnosis of melanoma and melanocytic tumors.

Accurate melanoma diagnosis is crucial for patient outcomes and reliability of AI diagnostic tools. We assess interrater variability among eight expert pathologists reviewing histopathological images and clinical metadata of 792 melanoma-suspicious lesions prospectively collected at eight German hospitals. Moreover, we provide access to the largest panel-validated dataset featuring dermoscopic and histopathological images with metadata.

Microsurgical Education in Reproductive Urology: A Review of Current Techniques and Opportunities for Improved Access to Learning Experiences.

Infertility is a common problem. Despite this, a dearth of urologists are trained in infertility care. Improved training opportunities may improve proficiency and interest in subspecialized training.

Frontal Fibrosing Alopecia (FFA) Part I - Diagnosis and Clinical Presentation.

Frontal Fibrosing Alopecia (FFA) is a primary lymphocytic cicatricial alopecia predominantly affecting postmenopausal Caucasian women. It is characterized by a progressive frontotemporal hairline recession that presents as a scarring hairless band and is often accompanied by eyebrow and body hair loss. Although initially described in postmenopausal women, FFA has been observed in a broader demographic, including premenopausal women and occasionally men.

Endo-Bentall Repair: Early Results and Feasibility of a Physician-Constructed Endo-Bentall Device.

Objective: We present our experience with endovascular Bentall procedure (Endo-Bentall) using a modular valve conduit (Endo-Bentall) in high-risk patients with aortic root pathologies.

Methods: The physician constructed Endo-Bentall device is composed of a self-expanding transcatheter aortic valve (TAVR), aortic endovascular stent graft (TEVAR), and two wire-reinforced fenestrations for coronary artery stenting. The TAVR valve is sutured into an appropriately sized TEVAR graft.

Progressive anterior segment involvement of an infant with corneoscleral juvenile xanthogranuloma refractory to topical steroids.

Purpose: To report a case of corneoscleral juvenile xanthogranuloma (JXG) with progressive anterior segment involvement refractory to topical steroids.

Observations: A 4-month-old male was referred for a new-onset subconjunctival lesion in the right eye. He was found to have a thickened, yellow corneoscleral lesion and hyphema, presumed to be ocular JXG.