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Complex Genetic Framework in Familial Amyotrophic Lateral Sclerosis With a C9ORF72 Mutation: A Case Report.
Cureus
December 2024
Department of Surgery - Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
A significantly diverse clinical presentation of amyotrophic lateral sclerosis (ALS), even in its best-studied familial form, continues to hinder current efforts to develop effective disease-modifying drugs for the cure of this rapidly progressive, fatal neuromuscular disease. We have previously shown that clinical heterogeneity of sporadic ALS (sALS) could be explained, at least in part, by its polygenic nature as well as by the presence of mutated genes linked to non-ALS neurological diseases and genes known to mediate ALS-related pathologies. We hypothesized that a similar genetic framework could also be present in patients with familial ALS (fALS).
View Article and Find Full Text PDFA Case Report of Infective Endocarditis Complicated With Pneumonia.
Case Rep Infect Dis
January 2025
Department of Infectious Disease, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Psittacosis is a zoonotic disease caused by and is commonly found in birds and poultry. Human infection is uncommon, and most cases are sporadic. Infection of extrapulmonary organs by is extremely rare.
View Article and Find Full Text PDFA synchronous occurrence of breast cancer and pleural mesothelioma: a case report.
J Med Case Rep
January 2025
Kabir Medical College, Peshawar, Pakistan.
Background: Malignant mesotheliomas are aggressive forms of tumors arising from mesothelial cells. The most common type is malignant pleural mesothelioma, which progresses rapidly and leads to pleural effusion. It typically affects older men and is strongly associated with asbestos exposure.
View Article and Find Full Text PDFpromoter 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.
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