Publications by authors named "D Cino"

Article Synopsis
  • - A 37-year-old woman with a balanced reciprocal translocation was found to have a high-risk non-invasive prenatal screening test indicating potential chromosome 18 abnormalities during her 13th week of pregnancy.
  • - Advanced techniques including cytogenetic analysis, FISH, and SNP-array were used to analyze her amniotic cells, revealing duplications on chromosome 18 and chromosome 9, suggesting aneuploidies.
  • - The study emphasizes the importance of using a combination of NIPT and detailed cytogenetic approaches to accurately detect and confirm chromosomal anomalies in high-risk pregnancies.
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This dataset provides longitudinal survey data from a European project, ySKILLS, which was focused on the role of digital skills in youths' development. It contains data from 10,821 participants from Grades 6-10 (in Wave 1) in Estonia, Finland, Germany, Italy, Poland, and Portugal. The data was collected between Spring 2021 and Spring 2023, the participants were recruited through schools, where the data collection also took place, except for online data collections due to restrictions caused by COVID-19.

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This case report describes the first known successful treatment of exfoliative cheilitis with the interleukin-4 receptor alpha antagonist dupilumab in an adult patient. With no response to topical tacrolimus, hydrocortisone, dapsone, crisaborole or systemic doxycycline, low dose isotretinoin, or methotrexate, she had resolution with off-label dupilumab after 4 months of treatment.

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Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS.

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