Exploring the Relationship Between Radiation-Induced Moya Moya Syndrome and Radiation Dose for Pediatric Patients Treated with Proton Radiation Therapy: Moya Moya in Peds Patients After Proton RT.

Purpose: The incidence and risk factors associated with radiation-induced Moya-Moya Syndrome (RIMMS) in pediatric brain tumor patients treated with proton radiotherapy (PRT) remain poorly understood. The objective of this study was to determine the incidence of RIMMS in the setting of CNS proton radiotherapy (PRT) in a pediatric cohort and assess its relationship with dose to the Circle of Willis (COW) or optic chiasm (OC).

Methods & Materials: We performed a retrospective review of pediatric brain tumor patient treated with intracranial PRT (1995-2021).

Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.

Blood-brain barrier disruption marks the onset of cerebral adrenoleukodystrophy (CALD), a devastating cerebral demyelinating disease caused by loss of ABCD1 gene function. The underlying mechanism are not well understood, but evidence suggests that microvascular dysfunction is involved. We analyzed cerebral perfusion imaging in boys with CALD treated with autologous hematopoietic stem-cells transduced with the Lenti-D lentiviral vector that contains ABCD1 cDNA as part of a single group, open-label phase 2-3 safety and efficacy study (NCT01896102) and patients treated with allogeneic hematopoietic stem cell transplantation.

Horseshoe kidney: Morphologic features, embryologic and genetic etiologies, and surgical implications.

The horseshoe kidney (HSK) is the most common congenital abnormality of the upper urinary tract with an incidence of approximately 1 in 500 in the general population. Although individuals with HSK are often asymptomatic, they are at increased risk for neoplasms, infections, ureteropelvic obstruction secondary to lithiasis or vascular compression. Direct injury from trauma is increased in these individuals as is the risk of intraoperative complications secondary to damage involving the typically complex renal or adrenal vascular supply.

Cerebrovascular Disease Progression in Patients With Arg179 Pathogenic Variants.

Objective: To establish progression of imaging biomarkers of stroke, arterial steno-occlusive disease, and white matter injury in patients with smooth muscle dysfunction syndrome caused by mutations in the gene, we analyzed 113 cerebral MRI scans from a retrospective cohort of 27 patients with Arg179 pathogenic variants.

Methods: Systematic quantifications of arterial ischemic strokes and white matter lesions were performed on baseline and follow-up scans using planimetric methods. Critical stenosis and arterial vessel diameters were quantified applying manual and semiautomated methods to cerebral magnetic resonance angiograms.