Publications by authors named "C Danesino"
The issue of a possible association between Shwachman-Diamond Syndrome and diabetes has been debated for many years. This review updates the Italian Shwachman-Diamond registry, confirming our previous findings that suggest that these patients might be at higher risk of developing diabetes, particularly type 1. These data are of relevance in the clinical follow-up of patients in everyday life, emphasizing the need for early diagnosis and timely intervention.
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- Genetic syndromes have been extensively studied for their clinical signs and underlying mechanisms, but gaps remain in understanding specific aspects like vocal production in conditions such as Cri du chat syndrome (CdCS).
- A study aimed to analyze the vocal characteristics of 29 CdCS patients aged 4 to 21 by recording their pronunciations of the vowels [a], [i], and [u], as well as counting from 1 to 10.
- Results showed notable differences in vocal qualities based on age and gender, with older males exhibiting the most pronounced roughness and asthenia, highlighting the link between voice production and biological or clinical traits.
Salivary gland pleomorphic adenoma (SGPA) is the most common type of benign epithelial tumor; it is observed more commonly in females (with a female-to-male ratio of 1.43:1), and the age at diagnosis ranges between 40 and 59 years, with only 2% of cases diagnosed before age 18. Cri du Chat (CdC) is a rare syndrome caused by deletions of various sizes in the short arm of chromosome 5.
View Article and Find Full Text PDFShwachman-Diamond syndrome (SDS) is one of the most common inherited bone marrow failure syndromes. SDS is characterized by hypocellular bone marrow, with a severe impairment of the myeloid lineage, resulting in neutropenia, thrombocytopenia, and, more rarely, anemia. Almost 15% of patients with SDS develop myelodysplastic syndrome or acute myeloid leukemia as early as childhood or young adulthood.
View Article and Find Full Text PDFBackground: In Cri du Chat (CdC), cancer as comorbidity is extremely rare. In databases from Denmark, Spain, Australia, New Zealand, and Japan, no cancer was reported; in Italy and Germany, four cancers were identified out of 321 CdCs.
Methods: In a 29-year-old CdC patient, clinical investigations following hematemesis led to the diagnosis of esophageal adenocarcinoma (EAC).