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Cervical Retrieval of Giant Posterior Mediastinal Parathyroid Adenoma with Bizarre Morphology.
Sisli Etfal Hastan Tip Bul
December 2024
Department of Pathology, Izmir Katip Celebi University, Ataturk Training and Research Hospital, Izmir, Türkiye.
Parathyroid adenoma is the most common cause of primary hyperparathyroidism and rarely reaches huge sizes. As the gland enlarges it may exhibit atypical morphology and extension to the mediastinum which may complicate the excision of the tumor while preserving the capsular integrity. We present a 35-year-old male patient who was referred to our department with a complaint of severe hypercalcemia.
View Article and Find Full Text PDFGiant Granular Cell Tumor of the Left Thigh, a Rare Case Report and Literature Review.
Orthop Res Rev
January 2025
Department of Oncology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, People's Republic of China.
Background: Granular cell tumor (GCT) is a rare soft tissue tumor characterized by Schwann cell differentiation. While GCT can occur in any part of the body, it is less common in the lower limbs. We report a case of a giant atypical GCT located in the left thigh, the tumor was initially small and painless at the time of discovery but gradually grew to 17 cm over a two-year period.
View Article and Find Full Text PDFSuccessful Surgical Management of Giant, Shamblin III Carotid Body Tumor (CBT) on a Male With 5 Years of Follow-Up: Case Report and Literature Review on Giant CBT.
Vasc Endovascular Surg
January 2025
Department of Surgery, Section of Vascular Surgery and Endovascular Therapy, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Background: Carotid body tumor (CBT) is a rare neoplasm that arises from the chemoreceptor cells located at the carotid bifurcation. Giant CBTs are extremely rare, with only 16 cases reported to date.
Case Summary: A 63-year-old male with an unremarkable medical history presented with a right-sided, giant, Shamblin III CBT.
A family with an atypical presentation of TBX3-related disorder.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFCapture, mutual inhibition and release mechanism for aPKC-Par6 and its multisite polarity substrate Lgl.
Nat Struct Mol Biol
January 2025
Signalling and Structural Biology Laboratory, Francis Crick Institute, London, UK.
The mutually antagonistic relationship of atypical protein kinase C (aPKC) and partitioning-defective protein 6 (Par6) with the substrate lethal (2) giant larvae (Lgl) is essential for regulating polarity across many cell types. Although aPKC-Par6 phosphorylates Lgl at three serine sites to exclude it from the apical domain, aPKC-Par6 and Lgl paradoxically form a stable kinase-substrate complex, with conflicting roles proposed for Par6. We report the structure of human aPKCι-Par6α bound to full-length Llgl1, captured through an aPKCι docking site and a Par6 contact.
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