DIOGO CORDEIRO DE QUEIROZ SOARES

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LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina

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Assunto: 22q11.2 deletion syndrome ×

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  • conferenceObject
    Analysis of soluble mediators of promotion and suppression of the immune response in patients with the 22q11.2 deletion syndrome
    (2021) SOARES, Diogo; KIM, Chong; TORRES, Leuridan; DANTAS, Anelisa; NUNES, Natalia; MELARAGNO, Maria Isabel; CARNEIRO-SAMPAIO, Magda
  • article 1 Citação(ões) na Scopus
    Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome
    (2020) SOARES, Diogo C.; DANTAS, Anelisa G.; MATTA, Marina C.; PASTORINO, Antonio C.; MELARAGNO, Maria Isabel; KULIKOWSKI, Leslie; MONTENEGRO, Marilia; KIM, Chong A.; CARNEIRO-SAMPAIO, Magda; TORRES, Leuridan C.
    22q11.2 deletion syndrome (22q11.2DS) has a heterogeneous presentation that includes multiple congenital anomalies and immunodeficiency, one of the most striking features. Usually, it is characterized by T cell lymphopenia, B cell dysfunction and autoimmunity. Here, we describe an unusual case of 22q11.2DS in a patient with lymphoproliferative disorder, polyautoimmunity and hypogammaglobulinemia.
  • article
    Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables
    (2024) PIMENTA, Larissa Salustiano Evangelista; MELLO, Claudia Berlim de; BENEDETTO, Luciana Mello Di; SOARES, Diogo Cordeiro de Queiroz; KULIKOWSKI, Leslie Domenici; DANTAS, Anelisa Gollo; MELARAGNO, Maria Isabel; KIM, Chong Ae
    The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical approximate to 3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life.