Follow-Up Study Confirms the Presence of Gastric Cancer DNA Methylation Hallmarks in High-Risk Precursor Lesions.

To adopt prevention strategies in gastric cancer, it is imperative to develop robust biomarkers with acceptable costs and feasibility in clinical practice to stratified populations according to risk scores. With this aim, we applied an unbiased genome-wide CpG methylation approach to a discovery cohort composed of gastric cancer ( = 24), and non-malignant precursor lesions ( = 64). Then, candidate-methylation approaches were performed in a validation cohort of precursor lesions obtained from an observational longitudinal study ( = 264), with a 12-year follow-up to identify repression or progression cases.

Role of endoscopic ultrasound-guided fine-needle aspiration in the diagnosis and classification of lymphomas.

Background: endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is a safe and effective technique in the diagnosis of mediastinal and abdominal masses. However, the usefulness of EUS-FNA in the diagnosis and classification of lymphomas is controversial. The aim of this study was to determine the yield of EUS-FNA in the diagnosis and classification of lymphomas.

Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease.

Presenilin 1 (PSEN1) is a γ-secretase component, which is in charge of the amyloid precursor protein (APP) cleavage. APP is believed to play a central role in the pathogenesis of Alzheimer's disease (AD). PSEN1 mutations are the most important causes of familial AD, being related to the earlier onset and rapid progression of the disease.

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

We report the case of a 10-year-old Spanish girl with mutations in NADK2 Prenatal central nervous system abnormalities showed ventriculomegaly, colpocephaly, and hypoplasia of the corpus callosum. At birth, axial hypotonia, uncoordinated movements, microcephaly, and generalized cerebellar atrophy were detected. Metabolic investigations revealed high lysine, lactate, and pipecolic acid levels in blood and cerebrospinal fluid.