Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.

Background: Primary hyperoxaluria type 3 (PH3) is a rare autosomal recessive disorder caused by bi-allelic genetic variants in the 4 hydroxy-2 oxoglutarate aldolase (HOGA-1) gene. We report the natural history of PH3 in a 16-patient cohort, 15 from a unique genetically isolated population.

Methods: This retrospective single-center study followed PH3 patients between 2003 and 2023 with demographic, clinical, radiographic, genetic, and biochemical parameters.

Dynamics of Motor Skill Learning in American and Israeli Toddlers With Varied Language Proficiency.

Purpose: The aim of the present study was twofold: to determine if deficits in motor skill proficiency and learning were present in 2-year-old children identified with early expressive language delay compared to peers without the delay, and to distinguish how motor skill proficiency and learning behaviors may manifest differently across culturally and linguistically diverse backgrounds.

Method: The study involved 54 children (24-36 months of age), 23 of whom were identified as having an expressive language delay. Furthermore, 16 participants were American and English-speaking and 38 were Israeli and Hebrew-speaking.

A Case of Transient Hypercalcemia Following Fistulization of a Calcified Mitral Annulus.

We report a case of severe symptomatic hypercalcemia that resolved after a short course of therapy of exclusively fluids and furosemide. An extensive workup for metabolic, neoplastic, and drug-induced causes did not provide a possible etiology of the hypercalcemia. After calcium level returned to baseline, the patient was discharged, only to return a week later with multiple embolic strokes of unknown source.

A panel of diverse clinical isolates for research and development.

are a leading cause of healthcare-associated infections worldwide. In particular, strains expressing extended-spectrum β-lactamases (ESBLs) and carbapenemases pose serious treatment challenges, leading the World Health Organization (WHO) to designate ESBL and carbapenem-resistant Enterobacteriaceae as 'critical' threats to human health. Research efforts to combat these pathogens can be supported by accessibility to diverse and clinically relevant isolates for testing novel therapeutics.

A 2200-year record of Andean Condor diet and nest site usage reflects natural and anthropogenic stressors.

Understanding how animals respond to large-scale environmental changes is difficult to achieve because monitoring data are rarely available for more than the past few decades, if at all. Here, we demonstrate how a variety of palaeoecological proxies (e.g.