ANTONIO CARLOS PASTORINO
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center(2022) GRASSI, Marcilia Sierro; MONTENEGRO, Marilia; ZANARDO, Evelin Aline; PASTORINO, Antonio Carlos; DORNA, Mayra Barros; KIM, Chong; JATENE, Marcelo; MIURA, Nana; KULIKOWSKI, Leslie; CARNEIRO-SAMPAIO, MagdaBackground: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
- Cardiopatias Congênitas como um Sinal de Alerta para o Diagnóstico da Deleção do 22q11.2(2014) GRASSI, Marcilia S.; JACOB, Cristina M. A.; KULIKOWSKI, Leslie D.; PASTORINO, Antonio C.; DUTRA, Roberta L.; MIURA, Nana; JATENE, Marcelo B.; PEGLER, Stephanie P.; KIM, Chong A.; CARNEIRO-SAMPAIO, MagdaBackground: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M: F = 1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.
conferenceObject 16q24 DUPLICATION AND IVEMARK SYNDROME: A NOVEL GENOMIC CAUSE?(2017) SOARES, Diogo C.; PIAZZON, Flavia B.; ZANARDO, Evelin; PASTORINO, Antonio Carlos; KULIKOWSKI, Leslie D.; BERTOLA, Debora R.; CARNEIRO-SAMPAIO, Magda; KIM, Chong Ae- 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.
- Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics(2021) HONJO, Rachel Sayuri; CASTRO, Matheus Augusto Araujo; FERRACIOLLI, Suely Fazio; SOARES JUNIOR, Luiz Alberto Valente; PASTORINO, Antonio Carlos; BERTOLA, Debora Romeo; MIYAKE, Noriko; MATSUMOTO, Naomichi; KIM, Chong AeCerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It is an autosomal-recessive condition described in 2015 caused by pathogenic variants in BRF1. Here, we report a Brazilian patient who faced a diagnostic challenge beginning at 11 months of age. Fortunately, whole-exome sequencing (WES) was performed, detecting the BRF1 variants NM_001519.3:c.1649delG:p.(Gly550Alafs*36) and c.421C>T:p.(Arg141Cys) in compound heterozygosity, thus finally achieving a diagnosis of cerebellofaciodental syndrome. The patient is currently 25 years old and is the oldest patient yet reported. The clinical report and a review of published cases are presented. Atlanto-occipital fusion, a reduced foramen magnum and basilar invagination leading to compression of the medulla-spinal cord transition are skeletal findings not reported in previous cases. The description of syndromes with dental findings shows that such anomalies can be an important clue to relevant differential diagnoses. The cooperation of groups from different international centers made possible the resolution of this and other cases and is one of the strategies to bring medical advances to developing countries, where many patients with rare diseases are difficult to diagnose definitively.
- Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant(2019) UCHIYAMA, Yuri; KIM, Chong A.; PASTORINO, Antonio Carlos; CERONI, Jose; LIMA, Patricia Picciarelli; DORNA, Mayra de Barros; HONJO, Rachel Sayuri; BERTOLA, Debora; HAMANAKA, Kohei; FUJITA, Atsushi; MITSUHASHI, Satomi; MIYATAKE, Satoko; TAKATA, Atsushi; MIYAKE, Noriko; MIZUGUCHI, Takeshi; MATSUMOTO, NaomichiIdentification of genetic causes of primary monogenic immunodeficiencies would strengthen the current understanding of their immunopathology. Pathogenic variants in genes in association with tumor necrosis factor a (TNF alpha) signaling, including OTULIN, TNFAIP3, RBCK1, and RNF31 cause human congenital autoinflammatory diseases with/without immunodeficiency. RIPK1, encoding a receptor interacting serine/threonine kinase 1, is present in protein complexes mediating signal transduction including TNF receptor 1. Biallelic loss-of-function variants in RIPK1 were recently reported in individuals with primary immunodeficiency with intestinal bowel disease and arthritis. Here, we report a novel homozygous RIPK1 variant in a boy with immunodeficiency and chronic enteropathy. Our patient exhibited severe motor delay and mild intellectual disability, which were previously unknown. The present results are expected to deepen the current understanding of clinical features based on RIPK1 abnormalities.
conferenceObject Lymphoproliferative Disorder with Hypogammaglobulinemia: an Unusual Presentation of 22q11.2 Deletion Syndrome(2017) SOARES, Diogo C.; NUNEZ, Evelyn Cristina; SANTOS, Cristiane J.; PASTORINO, Antonio C.; DANTAS, Anelisa G.; TORRES, Leuridan C.; ZANARDO, Evelin A.; KULIKOWSKI, Leslie D.; MELARAGNO, Maria Isabel; CARNEIRO-SAMPAIO, Magda M. S.; KIM, Chong AeconferenceObject HYPOGAMMAGLOBULINEMIA AND B CELL LYMPHOPENIA AS PHENOTYPE ASSOCIATED WITH CD25 DEFICIENCY(2016) SOARES, Diogo C.; AQUILANTE, Bruna; PASTORINO, Antonio Carlos; OLIVEIRA, Joao Bosco; KIM, Chong Ae; CARNEIRO-SAMPAIO, Magda