DIOGO CORDEIRO DE QUEIROZ SOARES
Projetos de Pesquisa
Unidades Organizacionais
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome(2017) SOARES, Diogo C.; STROPARO, Mariana N.; LIAN, Yu C.; TAKAKURA, Cristina Y.; WOLF, Sabrina; BETZ, Regina; KIM, Chong A.Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis.
- Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure(2018) SILVA, Andre M. S.; MENDONCA, Rodrigo H.; SOARES, Diogo C.; CALLEGARO, Dagoberto; CALDAS, Vitor M.; PERISSINOTTI, Iago N.; CARVALHO, Mary S.; ZANOTELI, Edmar
- Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection(2014) ALMEIDA, Tatiana F.; SOARES, Diogo C.; QUAIO, Caio R.; HONJO, Rachel S.; BERTOLA, Debora R.; MCGRATH, John A.; KIM, Chong A.
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.
conferenceObject HIGH LEVELS OF NKT CELLS IN CHRONIC GRANULOMATOUS DISEASE ASSOCIATED WITH HASHIMOTOXS THYROIDITIS: A CASE REPORT(2016) SOARES, Diogo C.; ALBUQUERQUE FILHO, Francisco S.; FALCAO, Ana Carla Augusto Moura; CORREIA, Jailson B.; TORRES, Leuridan C.; CARNEIRO-SAMPAIO, MagdaconferenceObject 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