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1.
Genes (Basel) ; 14(11)2023 Nov 12.
Article in English | MEDLINE | ID: mdl-38003012

ABSTRACT

Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer. In this article, we provide an overview of the reproductive options for patients diagnosed with CPS, focusing on the emerging role of Preimplantation Genetic Testing for Monogenic disorders (PGT-M). Specifically, we conducted a literature review about the awareness and acceptability of its application to CPSs. Based on the available data, the awareness of the applicability of PGT-M for CPSs appears to be limited among both patients and physicians, and a heterogeneous set of factors seems to influence the acceptability of the procedure. Our findings highlight the need for increasing education about the use of PGT-M for CPSs. In this context, guidelines developed by professional or institutional bodies would represent a useful reference tool to assist healthcare professionals in providing proper preconception counseling.


Subject(s)
Neoplasms , Preimplantation Diagnosis , Pregnancy , Female , Humans , Preimplantation Diagnosis/methods , Genetic Testing/methods , Reproduction , Neoplasms/diagnosis , Neoplasms/genetics , Disease Susceptibility
2.
Front Pediatr ; 10: 750403, 2022.
Article in English | MEDLINE | ID: mdl-35359905

ABSTRACT

Aim: Describe the use of the emergency department of a tertiary-level children's hospital in Italy by adolescents. Methods: This retrospective study was based on the medical records of patients aged 13 to 17 years, who accessed the emergency department of the Institute for Maternal and Child Health of Trieste, from 1 January to 31 December 2018. The primary outcome was to describe the leading causes of access, diagnoses, rate of hospitalization, and ward of destination among adolescent patients. Results: During the study period, 24,599 patients accessed the department. Among them, 3,062 were adolescents, for a total of 3,895 unscheduled visits. The principal causes of access were trauma (45.3%) and organic diseases (38.8%). Two hundred and forty nine adolescents (6.4%) had mental health problems. One hundred and forty two adolescents (3.6%) Were Admitted to the Hospital, 54 of Whom (38%) to the Neuropsychiatric Ward, for Mental Health Problems. Conclusions: Among adolescents seen in this Italian tertiary-level children's hospital, mental health problems represented a small proportion of emergency department visits but were the leading cause of urgent hospitalization.

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