Maren Ruka

A 18‐year‐old female presented with recurrent vomiting and headaches. Neuroimaging revealed extensive bilateral intracranial (Fahr‐type) calcification together with a cerebellar mass lesion. She underwent excision of the cerebellar mass. Etiology of the calcification could not be established, and histopathology showed only hyalinized acellular tissue, leaving the diagnosis of pilocytic astrocytoma presumptive.

Traumatic brain injury (TBI) remains one of the leading causes of mortality and long term disability among individuals under 45 years of age worldwide. Despite major advances in neurocritical and surgical care, the prevention of secondary brain injury continues to be the cornerstone of management. Early resuscitation with avoidance of hypotension and hypoxia remains vital for improved outcomes. Invasive intracranial pressure (ICP) and cerebral perfusion pressure (CPP) monitoring are widely recommended in severe TBI, though RCTs have not demonstrated clear superiority over clinical examination-based management. Landmark trials such as DECRA, RESCUEicp and RESCUE-ASDH have reshaped understanding of surgical intervention, showing that while it effectively reduces ICP, outcomes depend on timing and patient selection. Integration of quantitative pupillometry, biomarkers (GFAP, UCH-L1), and multimodal monitoring into tiered management frameworks represents a shift toward individualized, physiology-guided treatment. The aim of this review is to provide an updated synthesis of evidence-based management strategies for TBI, incorporating new insights from the 2024 American College of Surgeons (ACS) Best Practices Guidelines for the Management of Traumatic Brain Injury and recent clinical trials, with a focus on early recognition and the "time is brain" paradigm. The article reviews the current understanding of TBI pathophysiology, critical care monitoring strategies, and surgical management based on recent evidence and clinical trials.

Familial isolated pituitary adenoma (FIPA) accounts for approximately 2%–5% of all pituitary adenomas, with inactivating variants of the aryl hydrocarbon receptor‐interacting protein ( AIP ) gene representing the most frequent known genetic cause. Clinically, patients with AIP variants often have young‐onset macroadenomas with growth hormone hypersecretion, although disease severity and penetrance are variable. Most reported AIP variants are point mutations, whereas large deletions are rare and potentially underdiagnosed. Accurate detection of AIP copy‐number variants requires methods such as multiplex ligation‐dependent probe amplification or validated copy‐number analysis of next‐generation sequencing data, as Sanger sequencing alone may fail to identify these alterations. Due to the rarity of the disease, it is unknown whether large deletions in the ubiquitously expressed AIP gene are associated with potentially more severe phenotype. Available data suggest that large deletions may occur in 8%–10% of AIP mutation‐positive pedigrees, highlighting the importance of incorporating copy‐number variant detection into AIP testing workflows. We analysed data from all published patients with large AIP deletions ( n = 25) and report here two novel large AIP deletions (Exons 3–4 and Exons 2–6 deletions) and three additional three families, including an Albanian kindred associated with metastatic Hürthle cell thyroid carcinoma. No major differences compared with other AIP variants were found in age at diagnosis, tumour size, hormonal profile, sex distribution or presence of other tumours. A role for AIP variants in thyroid carcinogenesis is unlikely.