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Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that usually manifests before 18 months of age and is characterized by recurrent, alternating episodes of hemiparesis with variable frequency and can last from a few minutes to several days. We present a case of AHC in a little girl carrying a sporadic mutation in the ATP1A3 gene (p.Glu815Lys) refractory to flunarizine and non-compliant to topiramate due to adverse effects treated with oral compound of adenosine-5'-triphosphate (ATP) capsules.
View Article and Find Full Text PDFFirst autochthonous case of Opisthorchis felineus in Austria.
Parasit Vectors
January 2025
Department for Companion Animals and Horses, University Hospital for Small Animals, University of Veterinary Medicine Vienna, Vienna, Austria.
Background: Opisthorchis felineus is a feline pathogen with zoonotic potential that can be a causative agent of human opisthorchiasis and cholangiocarcinoma. In Europe, O. felineus is particularly endemic in Eastern European countries, while this parasite has also been sporadically detected in Germany, Italy and northern Poland.
View Article and Find Full Text PDFComplex 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
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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.
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