Research

Using cranial CT scans for opportunistic osteoporosis screening shows promise, but concerns remain. Addressing methodological criticisms is essential for validating this approach in broader clinical practice.

A novel frameshift mutation in the SYNGAP1 gene has been identified as a cause of autosomal dominant mental retardation type 5 and autism spectrum disorder. This finding emphasizes the critical role of SYNGAP1 in neurodevelopment and highlights the need for...

Decoding 18th-century medical recipes requires specialized skills beyond clinical knowledge. This paper highlights the challenges and rewards of applying paleography to understand historical medical practices.

Patients with chronic dermatologic conditions face a delicate balance between disease control and infection risk when using JAK inhibitors and biologics. This meta-analysis prompts clinicians to carefully evaluate individual patient risk profiles before ini...

Urinary exosomes hold promise for early kidney disease detection, but significant validation is needed. Premature clinical adoption could lead to misdiagnosis and inappropriate treatment.

Early enteral nutrition in septic shock is theoretically beneficial, but trials have yielded conflicting results. Defining the optimal timing and patient selection for enteral nutrition remains a critical challenge.

Infants with non-severe combined immunodeficiency (SCID) T-cell lymphopenia detected via newborn screening present a diagnostic and management challenge. This cohort study highlights the need for further prospective research to understand the long-term clin...

A novel *SPI1* mutation was identified in a Chinese patient with agammaglobulinemia, but the evidence for causality remains weak. Clinicians should be wary of attributing rare genetic variants to disease without robust functional validation and replication.

Patients with Prader-Willi Syndrome (PWS) face unique metabolic challenges; SGLT2 inhibitors may offer some benefit, but careful monitoring is essential. This analysis highlights the need for rigorous trials to define the risk-benefit profile of SGLT2 inhib...

Patients with iliac occlusive disease face variable outcomes depending on the revascularization technique used. This study highlights potential differences but also underscores the need for more rigorous prospective trials.