Publications by authors named "C Agazzi"

Article Synopsis
  • - Feeding difficulties are a common issue for patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1), observed from birth to adulthood in a study of 14 patients in Rome.
  • - All participants required enteral feeding at birth, with solid food introduction delayed for 43% until after 18 months, and mealtime challenges included fatigue while chewing, food spillage, and drooling.
  • - The findings enhance the understanding of CS/CISS1, aiding in better management and prevention of complications in patients with this ultra-rare disease.
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Article Synopsis
  • * The study looked at five kids who had different types of these malformations on their heads and necks, and doctors worked together to find the best ways to help them.
  • * While it’s tough to completely fix these issues, sending kids to special care centers can really help improve their lives and make things easier for their families.
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The correct interpretation of threat and reward is important for animal survival. Often, the decisions underlying these behavioral programs are mediated by volatile compounds in the animal's environment, which they detect and discriminate with specialized olfactory neurons along their body. senses chemical stimuli with neurons located in the head and the tail of the animal, which mediate either attractive or aversive behaviors.

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Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories.

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syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the gene. Due to paucity of data, this study intends to describe feeding issues and oral-motor dyspraxia in an unselected cohort of 10 patients with a confirmed molecular diagnosis. Pathogenic variants along with key information regarding oral-motor features were collected.

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