Publications by authors named "Eduarda Cecilia Pinguello"

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Medical care in clinical genetics: an experience of decentralization in southern Brazil.

Einstein (Sao Paulo) 2021 11;19:eAO5708. Epub 2021 Jun 11.

Hospital Universitário Dr. Miguel Riet Corrêa Jr., Faculdade de Medicina, Universidade Federal do Rio Grande, Rio Grande do Sul, RS, Brazil.

Objective: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care.

Methods: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results.

Results: A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome.

Conclusion: Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics.
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http://dx.doi.org/10.31744/einstein_journal/2021AO5708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8225263PMC
June 2021
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