Results 61 to 70 of about 4,912 (206)

Tuberous sclerosis complex patient fulfilling the criteria set by the 2012 international tuberous sclerosis complex consensus conference

open access: yesApollo Medicine, 2021
Tuberous sclerosis complex (TSC) is a rare multisystem neurocutaneous disorder associated with the growth of benign tumors in different organs such as the brain, lungs, kidneys, heart, and eyes.
Aimen Malik   +3 more
doaj   +1 more source

Novel Surgical Strategy System for Juvenile Nasopharyngeal Angiofibroma: A Focus on Feeding Artery Management

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objectives For intraoperative bleeding control in patients with juvenile nasopharyngeal angiofibroma (JNA), we developed a novel surgical strategy system. This system is focused on feeding artery management, based on the spatial relationship between the tumor entity and feeding artery as determined by three‐dimensional reconstruction.
Nian‐Zhen Zheng   +10 more
wiley   +1 more source

Late‐Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations.
A. Fekih   +6 more
wiley   +1 more source

Decoding the Hexosamine Biosynthesis Pathway: Implications for Novel Therapeutic Strategies in Sarcoma

open access: yesJournal of Cellular Physiology, Volume 241, Issue 5, May 2026.
ABSTRACT Cancer cells rewire their metabolism to sustain a high proliferation rate. Sensing external cues is essential to match the metabolic fluxes of the cells to the external stimuli. As part of the glucose metabolism, the hexosamine biosynthesis pathway (HBP) is considered a nutrient‐sensing pathway. The HBP produces UDP‐GlcNAc, a key precursor for
Pegah Rahimizadeh   +4 more
wiley   +1 more source

Juvenile Angiofibroma Protruding from the Nasal Cavity

open access: yesPhilippine Journal of Otolaryngology Head and Neck Surgery, 2012
Objective: To describe a case of juvenile angiofibroma with unusual protrusion out of the nasal cavity, and its management with surgery and radiotherapy.
Voon Hoong Fong   +1 more
doaj   +1 more source

Unilateral Nasopharyngeal Endoscopic Resection Type III: Technical Notes 

open access: yesThe Laryngoscope, Volume 136, Issue 5, Page 2101-2106, May 2026.
The present video case report details technical notes of Nasopharyngeal Endoscopic Resection (NER) Type III, performed for a mucosal melanoma in a 71‐year‐old patient. Key surgical steps—such as achieving optimal exposure, employing Doppler‐guided internal carotid artery localization, and applying vascularized flap coverage—are outlined, demonstrating ...
Carlo Conti   +7 more
wiley   +1 more source

Acral Mesenchymal Spindle Cell Neoplasm With a Novel HMGA2::NCOA2 Fusion

open access: yesJournal of Cutaneous Pathology, Volume 53, Issue 5, Page 402-406, May 2026.
ABSTRACT Molecular profiling has revolutionized the field of soft tissue pathology, enhancing diagnostic precision and treatment strategies. The integration of molecular analysis and immunohistochemistry has been crucial for classifying diagnostically challenging acral mesenchymal neoplasms.
Grace Z. Armstrong   +5 more
wiley   +1 more source

Primary Hyperparathyroidism in Adults: Recent Developments in Diagnosis and Management

open access: yesMedical Journal of Australia, Volume 224, Issue 5, May 2026.
ABSTRACT Primary hyperparathyroidism has a prevalence of around 1% in the general population. Diagnosis requires biochemical testing of serum (for calcium and parathyroid hormone) and urine (for calcium excretion), as well as wider screening for complications including osteoporosis, renal disease, abdominal symptoms and neuropsychiatric disturbance. In
Elizabeth Wootton   +5 more
wiley   +1 more source

The nasopharyngeal angiofibroma

open access: yesClinical Radiology, 1967
Twelve cases of angiofibromata of the nasopharynx are described. Ten patients were adolescent males, 2 were females. The aetiology is discussed but in this series endocrine dysfunction was not obvious. The technique of irradiation used is described and the results presented. Irradiation appears to act by initiating thrombosis and fibrosis in the tumour
openaire   +3 more sources

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 862-870, April 2026.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti   +14 more
wiley   +1 more source

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