Three distinct patterns of structural abnormalities of mitochondria, indicated as types I, II and III and associated with steatosis, were identified in the hepatocytes of 40 of 42 asymptomatic and 8 of 22 symptomatic patients with documented Wilson's disease before treatment. No correlation was seen between the type of mitochondrial abnormality and the patient's age, hepatic copper concentration, degree of hepatic steatosis or serum aminotransferase level. However, comparison of the types of abnormal hepatocellular mitochondria displayed by five pairs and one trio of asymptomatic siblings revealed remarkably similar types of abnormalities in each family. The variety of mitochondrial types encountered in different families and the high degree of type identity in sibling relationships indicate that the structural changes are genetically determined.
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http://dx.doi.org/10.1002/hep.1840160319 | DOI Listing |
Case Rep Dent
January 2025
Faculty of Dental Sciences, Beirut Arab University, Beirut, Lebanon.
Mucopolysaccharidosis (MPS) Type III (MPS III) or Sanfilippo syndrome is a rare autosomal recessive inherited metabolic disorder. This disorder is responsible for lysosomal storage disorder at the cellular aspect. Due to lysosomal enzyme perturbance leading to the alteration of macromolecule metabolisms, this cellular perturbance causes multiple severe systemic and mental outcomes.
View Article and Find Full Text PDFEur J Radiol Open
June 2025
Radiology Department, National Cancer Institute, Cairo University, Egypt.
Purpose: To investigate the impact of artificial intelligence (AI) reading digital mammograms in increasing the chance of detecting missed breast cancer, by studying the AI- flagged early morphology indictors, overlooked by the radiologist, and correlating them with the missed cancer pathology types.
Methods And Materials: Mammograms done in 2020-2023, presenting breast carcinomas (n = 1998), were analyzed in concordance with the prior one year's result (2019-2022) assumed negative or benign. Present mammograms reviewed for the descriptors: asymmetry, distortion, mass, and microcalcifications.
Int Immunopharmacol
January 2025
Department of Dermatology, Affiliated Hospital of Nanjing University of Chinese Medicine, Jiangsu Province Hospital of Chinese Medicine, Nanjing, Jiangsu 210029, China. Electronic address:
Breslow thickness (BT), a parameter measuring the depth of invasion of abnormally proliferating melanocytes, is a key indicator of melanoma severity and prognosis. However, the mechanisms underlying the increase in BT remain elusive. Utilizing data from The Cancer Genome Atlas (TCGA) human skin cutaneous melanoma (SKCM), we identified a set of BT-related molecules and analyzed their expression and genomic heterogeneity across pan-cancerous and normal tissues.
View Article and Find Full Text PDFBackground: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
Turk J Pediatr
December 2024
Department of Plastic Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Any impediment to the development of midline structures i.e. hypothalamus, pituitary and oral cavity may cause anatomical and functional issues.
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