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promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of gene?
Tumori
January 2025
IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy.
Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.
View Article and Find Full Text PDFCase report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival.
Front Cell Neurosci
January 2025
Department of Pathology, Case Western Reserve University, School of Medicine, Cleveland, OH, United States.
Creutzfeldt-Jakob disease (CJD) is a rare, fatal, rapidly progressive neurodegenerative disease resulting from an accumulation of misfolded prion proteins (PrP). CJD affects 1-2 new individuals per million each year, and the sporadic type accounts for 90% of those cases. Though the median age at onset and disease duration vary depending on the subtype of sporadic CJD (sCJD), the disease typically affects middle-aged to elderly individuals with a median survival of 4-6 months.
View Article and Find Full Text PDFUndifferentiated pleomorphic sarcoma in the maxillary sinus: a case report.
J Med Case Rep
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Background: Undifferentiated pleomorphic sarcoma, previously called malignant fibrous histiocytoma, is a type of malignant mesenchymal tumor (sarcoma) of soft tissue and sometimes bone. It is uncommon in the oral cavity and very sporadic in the maxillary sinus. Microscopic diagnosis of this malignancy in the maxillary sinus can be very challenging, because there is a range of features that may overlap with other benign and malignant tumors.
View Article and Find Full Text PDFCritical Acute Left Ventricular Outflow Tract Obstruction Due to Cardiac Sarcoma.
JACC Case Rep
January 2025
Department of Cardiovascular Disease, Mayo Clinic, Rochester, Minnesota, USA.
Left ventricular outflow tract (LVOT) obstruction is mostly caused by hypertrophic obstructive cardiomyopathy and subaortic stenosis. Rarely, malignancy can lead to dynamic LVOT obstruction and has only been sporadically documented. We present the first case of dynamic and/or nearly fixed LVOT obstruction caused by a cardiac myxoid spindle cell sarcoma.
View Article and Find Full Text PDFImmature Smooth Muscle Infiltration in Sporadic Lymphangioleiomyomatosis: A Case Study.
S D Med
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Sanford USD Medical Center, Sioux Falls, South Dakota.
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that causes progressive pulmonary damage. It typically affects young reproductive-age females with tuberous sclerosis complex (TSC). The clinical manifestations of LAM result from the progressive invasion of abnormal smooth muscle cells into lung parenchyma, lymphatics, or pulmonary vasculature.
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