0000000000672923
AUTHOR
Maria Pia Leone
Preliminary Evaluation of the Influence of Traditional Dairy Plant Equipment on the Microbiological Quality of “Caciocavallo Palermitano” Cheese
Caciocavallo Palermitano” is a raw cows’ milk cheese produced within Palermo province (Sicily), processed according to “pasta-filata” cheese technology without starter addition. Production flow-sheet includes a 15-minute milk bulk resting in “tina”, the traditional wooden vat used for cheese-making. This study was aimed to evaluate the influence of traditional equipment on the characteristics of cheese; at this stage, it was forwarded to the characterization of the microbiological populations of “Caciocavallo Palermitano” during each step of manufacturing. Two milk bulks (A and B), from different farming systems, were compared before and after resting in tina. After delivery at dairy factor…
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as p…