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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
PLoS Genet
January 2025
Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.
View Article and Find Full Text PDFIntraoperative indocyanine green with ultrasound-guided localization as prodigious adjuncts explicating negative margin in functional insulinoma: A case report.
Int J Surg Case Rep
December 2024
Department of Gastrointestinal and General Surgery, Kathmandu Medical College and Teaching Hospital, Kathmandu, Nepal.
Introduction And Importance: Insulinomas are rare pancreatic neuroendocrine neoplasms with an incidence of one to four cases per million annually and a 5 % to 10 % association with hereditary multiple endocrine neoplasia type-1. While most insulinomas are benign and well-encapsulated, approximately 6 % may have malignant potential. Intraoperative localization remains a vital component of treatment, often facilitated by modern imaging techniques like intraoperative ultrasound and fluorescence modalities.
View Article and Find Full Text PDFMinimal-invasive, image guided, 360-degree resection of ilio-lumbo-sacral ostechondroma, planned on the 3D model in a child with hereditary multiple ostechondroma (HMO).
Eur Spine J
December 2024
Department of Orthopedics, Umeå University Hospital, Umeå, Sweden.
Background: Hereditary Multiple Osteochondromas (HMO), previously known as Multiple Hereditary Exostoses (MHE), is a genetic disorder characterized by the formation of multiple, benign, exostoses (osteochondromas) growing from the metaphyseal region of long bones as well as from the axial skeleton. Lesions originating from the lumbar spine region are rare, and are most common growing from the posterior element of the vertebrae. HMO associated osteochondromas are difficult to treat due to continuous and incontrollable growth of these lesions and a lifetime risk for malignant transformation.
View Article and Find Full Text PDFMULTIPLE MUSHROOM-LIKE GROWING CYLINDROMAS OF THE SCALP (TURBAN TUMOR) IN A PATIENT WITH BROOKE-SPIEGLER SYNDROME: UNIQUE MANIFESTATION IN A BULGARIAN PATIENT.
Georgian Med News
October 2024
1Onkoderma - Clinic for Dermatology, Venereology and Dermatologic Surgery, Sofia, Bulgaria.
Cutaneous cylindromas are rare, slow-growing adnexal tumors commonly found on the capillitium or face. When located on the capillitium, they can cluster together, forming a headgear-like structure that gives the characteristic "turban" appearance. Brooke-Spiegler syndrome, an autosomal dominant condition, is typically benign, though malignant transformation can occur.
View Article and Find Full Text PDFActivities of the Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan.
Keio J Med
December 2024
Department of Dermatology, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan.
The Hashimoto Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin is a contributor to the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare (MHLW) of Japan. Our research group performs clinical research on 23 rare intractable genetic skin diseases that are classified into eight disease groups. Among the 23 diseases, 17 are mainly studied by our research group, and 6 diseases are studied in collaboration with other research groups.
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