10 documents found, page 1 of 1
HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMO...
Farias,Mariela Granero; Freitas,Priscila Aparecida Correa; Spagnol,Fabiane; Souza,Meriene Viquetti de; Alegretti,Ana Paula; Riegel,MariluceABSTRACT Objective: To describe the case of a child who presented hemophagocytic lymphohistiocytosis (HLH) associated with acute monocytic leukemia after chemotherapy, with hemophagocytosis caused by leukemic cells. Case description: In a university hospital in Southern Brazil, a 3-year-old female was diagnosed with acute monocytic leukemia with normal karyotype. The chemotherapy regimen was initiated, and she ...
Population medical genetics: translating science to the community
Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina XavierAbstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proport...
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-...
Corrêa,Thiago; Feltes,Bruno César; Riegel,MariluceAbstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein–protein interaction (PPI) network within the critical chromosomal region 5p15.3–p15.2 associated with CdCs using systemsbiology. Data were extracted from cytogenomic findings f...
Information and Diagnosis Networks – tools to improve diagnosis and treatment f...
Vieira,Taiane Alves; Trapp,Franciele Barbosa; Souza,Carolina Fischinger Moura de; Faccini,Lavínia Schuler; Jardim,Laura BannachAbstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information an...
Relative frequency and estimated minimal frequency of Lysosomal Storage Disease...
Giugliani,Roberto; Federhen,Andressa; Michelin-Tirelli,Kristiane; Riegel,Mariluce; Burin,MairaAbstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM...
Microarray-based comparative genomic hybridization analysis in neonates with co...
Dorfman,Luiza Emy; Leite,Júlio César L.; Giugliani,Roberto; Riegel,MariluceOBJECTIVE: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. METHODS: A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012...
Human molecular cytogenetics: from cells to nucleotides
Riegel,MariluceThe field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wi...
New microdeletion and microduplication syndromes: a comprehensive review
Nevado,Julián; Mergener,Rafaella; Palomares-Bralo,María; Souza,Karen Regina; Vallespín,Elena; Mena,Rocío; Martínez-Glez,Víctor; Mori,María ÁngelesSeveral new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described...
A patient presenting a 22q13 deletion associated with an apparently balanced tr...
Artigalás,Osvaldo; Paskulin,Giorgio; Riegel,Mariluce; Burin,Maira; Saraiva-Pereira,Maria Luiza; Maluf,Sharbel; Kiss,Andrea; Schwartz,Ida Vanessa D.A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A del...
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman ...
De Molfetta,Greice Andreotti; Felix,Temis Maria; Riegel,Mariluce; Ferraz,Victor Evangelista de Faria; Pina Neto,João Monteiro deAngelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and...