11,758 results match your criteria: "Tuberous Sclerosis"
Int J Surg Case Rep
December 2024
Damascus Hospital, Damascus, Syria.
Introduction And Significance: Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) is a rare renal tumor primarily associated with female patients and those with tuberous sclerosis complex (TSC). Despite lacking distinct clinical or radiological features, its unique histological characteristics allow for differentiation from other renal neoplasms. While it often exhibits indolent growth, metastatic potential remains a concern.
View Article and Find Full Text PDFAbdom Radiol (NY)
December 2024
Department of Radiology, The First Affiliated Hospital, Sun Yat-Sen University, No.58, Second Zhongshan Road, Yuexiu District, Guangzhou, Guangdong, 510080, China.
Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Department of Microbiology, Immunology & Pathology, Des Moines University, West Des Moines, IA 50266, USA.
Clear cell renal cell carcinoma is the most common form of kidney cancer, accounting for 75% of malignant kidney tumors, and is generally associated with poor patient outcomes. With risk factors including smoking, obesity, and hypertension, all of which have a high prevalence in the United States and Europe, as well as genetic factors including tuberous sclerosis complex and Von Hippel-Lindau syndrome, there is an increasing need to expand our present understanding. The current clear cell renal cell carcinoma knowledge is outdated, with obsolete diagnostic criteria and moderately invasive surgical treatments still prevailing, partially ascribed to its resistance to chemotherapy and radiation therapy.
View Article and Find Full Text PDFDrug Alcohol Depend Rep
December 2024
Division of Addiction Science, Prevention & Treatment, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States.
Background: Off-label prescribing of Epidiolex® (pharmaceutical cannabidiol) comes with both potential benefits and risks for patients. The aims of this study were to: (1) identify the percentage of people prescribed Epidiolex® who do not have diagnostic indications for Epidiolex® (Lennox Gastaut Syndrome [LGS], Dravet Syndrome [DS], and Tuberous Sclerosis Complex [TSC]) and (2) examine potential co-prescribing of medications that may interact with Epidiolex®.
Method: Using TriNetX analytics, a web-based database of de-identified electronic health records spanning >110 million people in the United States, we analyzed 4214 people receiving Epidiolex® in 2022.
Vasc Specialist Int
December 2024
Department of Obstetrics and Gynecology, JSS Academy of Higher Education and Research, Mysuru, India.
Renal angiomyolipomas, benign tumors composed of blood vessels, adipose tissue, and smooth muscle, affect approximately 70% to 80% of patients with tuberous sclerosis. Angiomyolipomas smaller than 4 cm are usually asymptomatic, whereas larger ones can cause lumbar pain, anemia, and hematuria. Contrary to its sporadic counterparts, tuberous sclerosis-associated angiomyolipomas often present at a young age, are multicentric and large, and carry a higher risk of life-threatening hemorrhage.
View Article and Find Full Text PDFBiochim Biophys Acta Rev Cancer
December 2024
Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy. Electronic address:
Renal cell carcinoma (RCC) constitutes the most frequent kidney cancer of the adult population and one of the most lethal malignant tumors worldwide. RCC often presents without early symptoms, leading to late diagnosis. Prognosis varies widely based on the stage of cancer at diagnosis.
View Article and Find Full Text PDFGenet Med Open
January 2024
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify the underlying causative genetic variants. In this study, we investigated whether data from a standard ES test could be used to additionally identify pathogenic CNVs and increase diagnostic yield.
View Article and Find Full Text PDFUrol Case Rep
January 2025
Department of Histopathology, Mt Meru Regional Referral Hospital, P.O Box 3092, Arusha, Tanzania.
Unlabelled: Renal angiomyolipoma is an uncommon benign tumor that mostly affects adults and is highly associated with tuberous sclerosis. It's very uncommon for it to affect adolescents. In this case, a 17-year-old male with abdominal pain and distension was diagnosed with sporadic giant renal angiomyolipoma.
View Article and Find Full Text PDFRadiographics
January 2025
From the Department of Radiology, Mayo Clinic, 200 1st Ave SE, Rochester, MN 55905 (A.B.K.); Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa (M.R.A.); Department of Radiology and Imaging Sciences, Emory University and Children's Healthcare of Atlanta, Atlanta, Ga (G.K., A.A.); Department of Radiology, Cincinnati Children's Hospital, Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio (C.E.M., A.J.T.); Department of Radiology, Keck School of Medicine and Children's Hospital Los Angeles, Los Angeles, Calif (H.N.N.); Department of Radiology, Nationwide Children's Hospital, Columbus, Ohio (M.A.R.); Department of Medical Imaging, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Ill (E.R.); Department of Radiology, UT Southwestern Medical Center, Dallas, Tex (G.R.S.); Department of Radiology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa (J.H.S.); Department of Radiology, Stanford University School of Medicine, Stanford, Calif (A.B.S.); and Department of Radiology, Children's Hospital Colorado, Aurora, Colo (E.R.T.).
Liver masses in children with underlying systemic disease or a predisposing syndrome can be benign or malignant, ranging from focal fat to hepatocellular carcinoma (HCC). Knowledge of the underlying condition, the pathophysiologic effect on the liver, and the development of liver disease and specific liver lesions allows radiologists to guide imaging with regard to modality and frequency and give recommendations for biopsy when appropriate. In some predisposition disorders, such as Beckwith Wiedemann spectrum, familial adenomatous polyposis syndrome, and tuberous sclerosis complex, established guidelines for imaging screening exist.
View Article and Find Full Text PDFAngiogenesis
December 2024
Division of Vascular Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, 171 77, Sweden.
Cureus
November 2024
Internal Medicine, Unidade Local de Saúde de Braga, Braga, PRT.
Lymphangioleiomyomatosis (LAM) is a rare, systemic neoplastic disease that primarily affects women of childbearing age. The disease can arise sporadically or in association with tuberous sclerosis. It is characterized by the proliferation of abnormal smooth muscle-like cells, leading to cystic lung destruction, accumulation of chylous fluid, and development of abdominal tumors.
View Article and Find Full Text PDFCRISPR J
December 2024
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the or genes. Though TSC causes the formation of nonmalignant tumors throughout multiple organs, the most frequent causes of mortality and morbidity are due to neurological complications. In two-thirds of cases, TSC occurs sporadically and pathogenic variants are approximately three times more prevalent than pathogenic variants.
View Article and Find Full Text PDFClin Cosmet Investig Dermatol
December 2024
Department of Pathology, College of Basic Medicine of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010059, People's Republic of China.
Background: Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).
View Article and Find Full Text PDFTrop Doct
December 2024
Professor, Department of Pulmonary Medicine, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Angiomyolipomas are the benign tumours of the kidney which occur either sporadically or in association with tuberous sclerosis complex (TSC). Symptoms typically develop with an increase in the size of the lesion. We present a clinical image of a patient with giant renal angiomyolipomas who had other clinical features of TSC (facial angiofibromas, periungual fibroma, subependymal nodules in the brain, and lung cysts).
View Article and Find Full Text PDFEye (Lond)
December 2024
FEBO, Ulucanlar Eye Training and Research Hospital, Ophthalmology Department, Ankara, Turkey.
Eye (Lond)
December 2024
Ophthalmology, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, India.
Eur J Cancer Prev
November 2024
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai.
Lack of efficient biomarkers and clinical translation of molecular typing impedes the implementation of targeted therapy for hepatocellular carcinoma (HCC). High-throughput sequencing techniques represented by next-generation sequencing (NGS) are tools for detecting targetable genes. The objective of this study is to explore the genetic alterations associated with clinicopathological features and the risk of recurrence/metastasis in HCC.
View Article and Find Full Text PDFEpilepsia
December 2024
Department of Pediatric Neurology, University Medical Center Utrecht Brain Center, Utrecht, The Netherlands.
World J Pediatr
December 2024
Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Epilepsia
December 2024
Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Objective: Epilepsy surgery in the operculoinsular cortex is challenging due to the difficult delineation of the epileptogenic zone and the high risk of postoperative deficits.
Methods: Pre- and postsurgical data from 30 pediatric patients who underwent operculoinsular cortex surgery at the Motol Epilepsy Center Prague from 2010 to 2022 were analyzed.
Results: Focal cortical dysplasia (FCD; n = 15, 50%) was the predominant cause of epilepsy, followed by epilepsy-associated tumors (n = 5, 17%) and tuberous sclerosis complex (n = 2, 7%).
Clin Nucl Med
December 2024
From the Department of Nuclear Medicine, University of Health Sciences, Kartal Dr Lutfi Kirdar City Hospital, Istanbul, Turkey.
Mol Psychiatry
December 2024
School of Psychology and Public Health, La Trobe University, Melbourne, VIC, Australia.
PLoS One
December 2024
Department of Pediatric Neurology, Imagine Institute Paris, Necker-Enfants Maelades Hospital, Reference Centre for Rare Epilepsies, Member of Epicare, University Paris cite, Paris, France.
Neuroradiol J
December 2024
Department of Neuroradiology, Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Switzerland.
iScience
November 2024
Xiangya Hospital Central South University, 87 Xiangya Road, Kaifu District, Changsha, Hunan 410008, China.
Chronic infection with () is a major risk factor for gastric cancer. This work attempted to investigate the underlying mechanism of SLFN4 myeloid-derived suppressor cells (MDSCs) in affecting gastric intestinal metaplasia (GIM). infection enhanced the expression of IFN-α and SLFN4, and activated JAK2/STAT1 signaling pathway in bone marrow cells or mouse gastric corpus.
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