This work evaluated the infection of H. pylori in the different gastric pathologies and its association with the oncogen K-ras 12. Endoscopy was performed in 62 patients and 3 biopsies from the antral region were taked and used for the histological diagnostic, PCR, and point mutations determination. The results showed a high incidence of H. pylori infection in patients with active chronic gastritis (AcCG) 90%, chronic atrophic gastritis (AtCG) 70%, intestinal metaplasia (IM) 67%, dysplasia (D) 83%, and decrease in in gastric cancer (GC) 33%. Evaluation of the oncogen K-ras 12 showed that 68% of the patients presented mutations in the different analyzed amino acids. In the 12 codon of the K-ras gene, we observed simple point mutations and combination in the same sample in different gastric pathologies. In AcCG samples were detected the greater number of mutations. A decrease of the point mutations were observed in the progression stages to gastric cancer. The presence of these specific mutations would be tumor markers and it determine the possible development of gastric tumors.
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Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDFItal J Pediatr
January 2025
Child Healthcare Department, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, Jiangsu, 210008, China.
Background: This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Methods: A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing.
Plant Mol Biol
January 2025
College of Life Sciences, Northwest A & F University, Xi'an, 710000, China.
Triacylglycerol (TAG) is a major component of plant-neutral lipids. Diacylglycerol acyltransferase 2 (DGAT2) plays an important role in plant oil accumulation by catalyzing the final step of the Kennedy pathway. In this study, ten DGAT2 sequences were originating from different oil crops into the TAG-deficient yeast strain H1246, to compare their enzyme activity of oil synthesis and filter out potential amino acid residue sites for directed evolution.
View Article and Find Full Text PDFKidney Int
January 2025
Complement Therapeutics Research Group, Newcastle University Translational and Clinical Research Institute, The Medical School, Newcastle-upon-Tyne, UK; National Renal Complement Therapeutics Centre, The Royal Victoria Infirmary, Newcastle-upon-Tyne, UK.
Introduction of complement (C) inhibition into clinical practice has revolutionized the treatment of patients with complement-mediated atypical hemolytic syndrome (aHUS). Our C3 mouse model, engineered around a gain of function point mutation in C3, is associated with complement mediated aHUS in man, allowing us to study the clinical disease in a preclinical model. Backcrossing our model onto C7 deficient and C5aR1 deficient mice enabled further determination of the roles of the C5a-C5aR1 axis and C5b-9 (the membrane attack complex) on kidney disease.
View Article and Find Full Text PDFBrain Dev
January 2025
Department of Pediatrics, Aichi Medical University School of Medicine, Nagakute, Japan.
Background: Most cases of spinal muscular atrophy (SMA) can be diagnosed by copy number analysis of survival motor neuron (SMN) 1. However, a small number of cases of SMA can only be diagnosed by sequencing analysis. We present a case of SMA diagnosed 7 years after the onset of symptoms.
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