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Application of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Hemorrhagic astroblastoma: atypical presentation of a rare tumor. Illustrative case.
J Neurosurg Case Lessons
January 2025
Neurosurgery Department, Palmetto General Hospital, Hialeah, Florida.
Background: Astroblastoma is an extremely rare tumor of the central nervous system, and its origin and validity as a different entity are still being debated. Because of its rarity and similarities to other glial neoplasms, it is often misdiagnosed, impacting treatment and outcomes.
Observations: Astroblastoma is very rare and mainly affects children and young adults.
Iatrogenic pseudoaneurysm formation of the anterior cerebral artery following placement of an external ventricular drain: illustrative case.
J Neurosurg Case Lessons
January 2025
Department of Neurological Surgery, Cooper University Health Care, Camden, New Jersey.
Background: External ventricular drains (EVDs) provide an invaluable diagnostic method for accessing cerebrospinal fluid and therapeutically treating elevated intracranial pressure. Although complications including hemorrhage and infection have been well documented, the formation of iatrogenic pseudoaneurysms following EVD placement has rarely been reported. The authors present a case of this exceedingly rare complication of iatrogenic pseudoaneurysm formation following EVD placement.
View Article and Find Full Text PDFCoexisting sellar Rathke cleft cyst and planum sphenoidale meningioma: illustrative case.
J Neurosurg Case Lessons
January 2025
Department of Neurosurgery, Stanford University School of Medicine, Stanford, California.
Background: The co-occurrence of Rathke cleft cysts (RCCs) and meningiomas in the sellar and parasellar regions represents an exceedingly rare clinical entity. Achieving maximal resection through a single operative approach while minimizing adverse events is challenging, often necessitating multiple surgical approaches, as suggested by previous reports.
Observations: The authors report the case of a 49-year-old female with a history of kidney transplant who presented with headaches and was diagnosed with coexisting RCC and meningioma in the sellar and planum sphenoidale regions, respectively.
Retrograde thrombosis of the superficial sylvian vein following liquid adhesive hemostat use during craniotomy: illustrative case.
J Neurosurg Case Lessons
January 2025
Department of Neurosurgery, University of California, Irvine, Orange, California.
Background: Intravascular injection of liquid adhesive hemostats is a rare but serious complication that can result in cerebral thromboembolism.
Observations: A 64-year-old female underwent orbitozygomatic craniotomy for posterior communicating artery aneurysm clipping with the routine use of a flowable hemostatic agent during extradural dissection. After placement of the aneurysm clip, flow was confirmed through the parent vessel and nearby branches.
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