LUIZ ANTONIO NUNES DE OLIVEIRA
Índice h a partir de 2011
5
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
17 resultados
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Agora exibindo 1 - 10 de 17
- Natural history of 39 patients with Achondroplasia(2018) CERONI, Jose Ricardo Magliocco; SOARES, Diogo Cordeiro de Queiroz; TESTAI, Larissa de Cassia; KAWAHIRA, Rachel Sayuri Honjo; YAMAMOTO, Guilherme Lopes; SUGAYAMA, Sofia Mizuho Miura; OLIVEIRA, Luiz Antonio Nunes de; BERTOLA, Debora Romeo; KIM, Chong AeOBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G >A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.
- Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis(2022) LINNENKAMP, Bianca; GIRARDI, Raissa; ROCHA, Leticia; YAMAMOTO, Guilherme; CERONI, Jose Ricardo; MENDES, Antonia Elisabeth Cristhina; HONJO, Rachel; OLIVEIRA, Luiz Antonio; AMEMIYA, Raphael Bruno; QUAIO, Caio; OLIVEIRA FILHO, Joao Bosco de; KIM, Chong Ae; BERTOLA, Debora
- Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia(2016) PEGLER, José Roberto Mendes; SOARES, Diogo Cordeiro de Queiroz; QUAIO, Caio Robledo D’Angioli Costa; FERNANDES, Natalia; OLIVEIRA, Luiz Antonio Nunes de; HONJO, Rachel Sayuri; BERTOLA, Debora Romeo; KIM, Chong AeSUMMARY Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. Results: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient’s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. Conclusion: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.
- Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms(2021) ROCHA, Leticia Alves da; PIRES, Lucas Vieira Lacerda; YAMAMOTO, Guilherme Lopes; CERONI, Jose Ricardo Magliocco; HONJO, Rachel Sayuri; BISNETO, Edgard de Novaes Franca; OLIVEIRA, Luiz Antonio Nunes; ROSENBERG, Carla; KREPISCHI, Ana Cristina Victorino; PASSOS-BUENO, Maria Rita; KIM, Chong Ae; BERTOLA, Debora RomeoCongenital limb deficiency (CLD), one of the most common congenital anomalies, is characterized by hypoplasia/aplasia of one or more limb bones and can be isolated or syndromic. The etiology in CLD is heterogeneous, including environmental and genetic factors. A fraction remains with no etiological factor identified. We report the study of 44 Brazilian individuals presenting isolated or syndromic CLD, mainly with longitudinal defects. Genetic investigation included particularly next-generation sequencing (NGS) and/or chromosomal microarray. The overall diagnostic yield was 45.7%, ranging from 60.9% in the syndromic to 16.7% in the non-syndromic group. In TAR syndrome, a common variant in 3 ' UTR of RBM8A, in trans with 1q21.1 microdeletion, was detected, corroborating the importance of this recently reported variant in individuals of African ancestry. NGS established a diagnosis in three individuals in syndromes recently reported or still under delineation (an acrofacial dysostosis, Coats plus and Verheij syndromes), suggesting a broader phenotypic spectrum in these disorders. Although a low rate of molecular detection in non-syndromic forms was observed, it is still possible that variants in non-coding regions and small CNVs, not detected by the techniques applied in this study, could play a role in the etiology of CLD.
- Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy(2014) YAMAMOTO, Guilherme L.; BARATELA, Wagner A. R.; ALMEIDA, Tatiana F.; LAZAR, Monize; AFONSO, Clara L.; OYAMADA, Maria K.; SUZUKI, Lisa; OLIVEIRA, Luiz A. N.; RAMOS, Ester S.; KIM, Chong A.; PASSOS-BUENO, Maria Rita; BERTOLA, Debora R.Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy. Whole-exome sequencing of four individuals affected by this disorder from two Brazilian families identified two previously unreported homozygous mutations in PCYT1A. This gene encodes the alpha isoform of the phosphate cytidylyltransferase 1 choline enzyme, which is responsible for converting phosphocholine into cytidine diphosphate-choline, a key intermediate step in the phosphatidylcholine biosynthesis pathway. A different enzymatic defect in this pathway has been previously associated with a muscular dystrophy with mitochondrial structural abnormalities that does not have cartilage and/or bone or retinal involvement. Thus, the deregulation of the phosphatidylcholine pathway may play a role in multiple genetic diseases in humans, and further studies are necessary to uncover its precise pathogenic mechanisms and the entirety of its phenotypic spectrum.
bookPart Diagnóstico por imagem do tórax: generalidades e como interpretar padrões(2017) OLIVEIRA, Luiz Antonio Nunes de- Radiological patterns of pulmonary fungal infection in pediatric hematology and oncology patients(2022) BAIN, Vera; BARRIENTOS, Anna Carlota Mott Galvão de Arruda; SUZUKI, Lisa; OLIVEIRA, Luiz Antonio Nunes de; LITVINOV, Nadia; PERON, Karina Rodrigues; FERNANDES, Juliana Folloni; MARQUES, Heloisa Helena de SousaAbstract Objective: To describe the radiological findings in pediatric patients with hematological or oncological diseases who also have an invasive fungal infection (IFI). Materials and Methods: This was a retrospective study of all patients with IFI admitted to a pediatric hematology and oncology hospital in Brazil between 2008 and 2014. Clinical and demographic data were collected. Chest computed tomography (CT) scans of the patients were reviewed by two independent radiologists. Results: We evaluated the chest CT scans of 40 pediatric patients diagnosed with an IFI. Twenty-seven patients (67.5%) had nodules with the halo sign, seven (17.5%) had cavities, two (5.0%) had nodules without the halo sign, and seven (17.5%) had consolidation. The patients with the halo sign and cavities were older (123 vs. 77 months of age; p = 0.03) and had less severe disease (34% vs. 73%; p = 0.04). Ten patients had a proven IFI: with Aspergillus sp. (n = 4); with Candida sp. (n = 5); or with Fusarium sp. (n = 1). Conclusion: A diagnosis of IFI should be considered in children and adolescents with risk factors and abnormal CT scans, even if the imaging findings are nonspecific.
- Ultrasound guided injection of botulinum toxin into the salivary glands of children with neurological disorders(2016) MATSUOKA, Marcia Wang; ROCHA, Sílvia Maria Sucena da; SUZUKI, Lisa; BARNEWITZ, João Paulo; IMAMURA, Rui; OLIVEIRA, Luiz Antonio Nunes de
- Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III(2019) CERONI, Jose Ricardo Magliocco; SPOLADOR, Gustavo Marquezani; BERMEO, Diana Salazar; HONJO, Rachel Sayuri; OLIVEIRA, Luiz Antonio Nunes de; BERTOLA, Debora Romeo; KIM, Chong AeObjectiveThe present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis in mucolipidosis from a description of the natural history of five Brazilian cases.Materials and methodsWe conducted an observational and retrospective study of five patients with clinical and radiological diagnosis of mucolipidosis. Clinical evaluation consisted of information obtained from records and including physical, neurologic, and dysmorphic evaluations. Radiologic studies consisted of complete skeletal radiographs of all patients. Enzyme assessment was performed for confirmation of the diagnosis.ResultsThe five patients were referred for genetic evaluation due to disproportionate short stature with short trunk accompanied by waddling gait. Age at referral varied from 11months to 28years. The most prevalent findings were joint restriction (4/5 patients), neuropsychomotor developmental delay (3/5), coarse facies (2/5), hypertrophic cardiomyopathy (2/5), and mental retardation (1/4 patients). The most common radiological findings were anterior beaking of the vertebral bodies (5/5), shallow acetabular fossae (5/5), epiphyseal dysplasia (5/5), platyspondyly (4/5), pelvic dysplasia (4/5), decreased bone mineralization (4/5), scoliosis (3/5), wide and oar-shaped ribs (3/5), generalized epiphyseal ossification delay (3/5), and hypoplasia of basilar portions of ilea (3/5). Enzyme assessment showed -iduronidase, -mannosidase, -glucuronidase, hexosaminidase A, and total hexosaminidase increased in plasma and normal glycosaminoglycans concentration. One patient was clinically classified as ML II and four patients as ML III.ConclusionsThe follow-up of five patients showed the typical clinical and radiological findings allowing the diagnosis, thus improving clinical management and providing adequate genetic counseling. Clinicians and radiologists can take advantage of the information from this work, enhancing their differential diagnosis ability.
- Menetrier's disease associated with gastric adenocarcinoma in a child - imaging aspect(2016) SILVA, Pedro Henrique Ramos Quintino da; RIGO, Paula; BATISTA, Renan Pedroso; TOMA, Ricardo Katsuya; OLIVEIRA, Luiz Antonio Nunes De; SUZUKI, Lisa