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Cureus
December 2024
Department of Neurosurgery, Southmead Hospital, North Bristol NHS Trust, Bristol, GBR.
The occipital sinus is often thought of as a redundant vestigial structure in adults. However, in rare cases, it can form the dominant route of intracerebral venous drainage, with a risk of significant surgical morbidity if unrecognised. We present an illustrative case describing this anatomical variant and tailoring of a midline suboccipital craniotomy to allow resection of a fourth ventricular epidermoid tumour with preservation of a dominant occipital sinus, and a review of the published literature.
View Article and Find Full Text PDFSex Med
December 2024
Department of Clinical Investigation, Madigan Army Medical Center, Tacoma, Washington 98431, United States.
Background: Pelvic trauma can have long-lasting debilitating effects, including severe erectile dysfunction (ED) in men. While there are effective treatments for ED, these treat the symptoms not the cause. Those who suffer from an acute traumatic injury to the neurovascular supply of penis, may benefit from regenerative therapy.
View Article and Find Full Text PDFCureus
December 2024
Neurosurgery, Queens Hospital Center, Romford, GBR.
We report the management of a convexity dural arteriovenous fistula (dAVF) in an uncommon anterior superior sagittal sinus (SSS) location. This was a high-risk Cognard IIa+b dAVF, which is notoriously complex to treat. Endoscopic management alone for complex SSS dAVFs is challenging due to the often bilateral arterial supply to the fistula, as demonstrated in this case.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
September 2024
Department of Cardiovascular Surgery, Corewell East William Beaumont University Hospital, Royal Oak, Michigan.
Coronary-pulmonary artery fistulas (CPAFs) are rare entities that can cause significant left-to-right shunting and complicate routine coronary artery bypass grafting. There are no best practice guidelines and a scarcity of reports regarding concomitant treatment of CPAF with coronary artery disease. We present a case of bilateral CPAFs in a 60-year-old man with symptomatic coronary artery disease treated successfully with coronary artery bypass, epicardial ligation, and transpulmonary closure of CPAF with patch reconstruction.
View Article and Find Full Text PDFExp Eye Res
January 2025
Genetic Diagnosis Unit, Institute for Rare Diseases Research (IIER), Institute of Health Carlos III (ISCIII), Madrid, Spain; CIBER of Rare Diseases (CIBERER), U758. Institute of Health Carlos III (ISCIII), Madrid, Spain.
Constitutional variants in the RB1 gene predispose individuals to the development of Retinoblastoma (RB) and the occurrence of second tumors in adulthood. Detection of causal RB1 gene variants is essential to establish the genetic diagnosis and to performing familial studies and counseling. In our cohort of 579 Spanish RB patients, 15% of cases suspected to have a genetic origin remained negative after traditional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) of RB1 gene, likely due to the possibility of mosaicism or non-coding variants.
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