LINC complex alterations are a key feature of sporadic and familial ALS/FTD.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and loss of voluntary muscle control. While the exact cause of ALS is not fully understood, emerging research suggests that dysfunction of the nuclear envelope (NE) may contribute to disease pathogenesis and progression. The NE plays a role in ALS through several mechanisms, including nuclear pore defects, nucleocytoplasmic transport impairment, accumulation of mislocalized proteins, and nuclear morphology abnormalities.

LINC complex alterations are a hallmark of sporadic and familial ALS/FTD.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and loss of voluntary muscle control. While the exact cause of ALS is not fully understood, emerging research suggests that dysfunction of the nuclear envelope (NE) may contribute to disease pathogenesis and progression. The NE plays a role in ALS through several mechanisms, including nuclear pore defects, nucleocytoplasmic transport impairment, accumulation of mislocalized proteins, and nuclear morphology abnormalities.

Respiratory epithelial adenomatoid hamartomas: An increasingly common diagnosis in the setting of nasal polyps.

Background: Respiratory epithelial adenomatoid hamartomas (REAH) are benign nose neoplasms found in the nasal cavity and sinuses. Symptoms include anosmia, nasal obstruction, facial pressure, and rhinorrhea. Although previously thought to be rare, these tumors are being increasingly recognized on pathology in patients undergoing endoscopic sinus surgery.

Wide Inter-institutional Variation in Performance of a Molecular Classifier for Indeterminate Thyroid Nodules.

Background: The Afirma gene expression classifier (GEC) is used to assess malignancy risk in indeterminate thyroid nodules (ITNs) classified as Bethesda category III/IV. Our objective was to analyze GEC performance at two institutions with high thyroid cytopathology volumes but differing prevalence of malignancy.

Methods: Retrospective analysis of all ITNs evaluated with the GEC at Memorial Sloan Kettering Cancer Center (MSK; n = 94) and Mount Sinai Beth Israel (MSBI; n = 71).