MANOEL DE SOUZA ROCHA
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Radiologia, Faculdade de Medicina - Docente
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
- Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life(2014) GONCALVES, Tatiana D.; TOLEDO, Rodrigo A.; SEKIYA, Tomoko; MATUGUMA, Sergio E.; MALUF FILHO, Fauze; ROCHA, Manoel S.; SIQUEIRA, Sheila A. C.; GLEZER, Andrea; BRONSTEIN, Marcelo D.; PEREIRA, Maria A. A.; JUREIDINI, Ricardo; BACCHELLA, Telesforo; MACHADO, Marcel C. C.; TOLEDO, Sergio P. A.; LOURENCO JR., Delmar M.Context: Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and insulinomas in young MEN1 patients. Apotential positive correlation between tumor size and malignancy (2-3 cm, 18%; >3 cm, 43%) has greatly influenced the management of MEN1 adults with NF-PETs. Objective: The aim of the study was to estimate the penetrance of NF-PETs, insulinomas, and gastrinomas in young MEN1 carriers. Design: The data were obtained from a screening program (1996-2012) involving 113 MEN1 patients in a tertiary academic reference center. Patients: Nineteen MEN1 patients (aged 12-20 y; 16 patients aged 15-20 y and 3 patients aged 12-14 y) were screened for NF-PETs, insulinomas, and gastrinomas. Methods: Magnetic resonance imaging/computed tomography and endoscopic ultrasound (EUS) were performed on 10 MEN1 carriers, magnetic resonance imaging/computed tomography was performed on five patients, and four other patients underwent an EUS. Results: The overall penetrance of PETs during the second decade of life was42%(8 of 19). All eight PET patients had NF-PETs, and half of those tumors were multicentric. One-fifth of the screened patients (21%; 4 of 19) harbored at least one large tumor (>2.0 cm). Insulinoma was detected in two NF-PET patients (11%) at the initial screening; gastrinoma was not present in any cases. Six of the 11 (54%) screened patients aged 15-20 years who underwent an EUS had NF-PETs. Potential false-positive EUS results were excluded based on EUS-guided biopsy results, the reproducibility of the NF-PET findings, or the observation of increased tumor size during follow-up. Distal pancreatectomy and the nodule enucleation of pancreatic head tumors were conducted on three patients with large tumors (>2.0 cm; T2N0M0) that were classified as grade 1 neuroendocrine tumors (Ki-67 < 2%). Conclusions: Our data demonstrated high penetrance of NF-PETs in 15- to 20-year-old MEN1 patients. The high percentage of the patients presenting consensus criteria for surgery for NF-PET alone or NF-PET/insulinoma suggests a potential benefit for the periodic surveillance of these tumors in this age group.
- Iron-Overload Evaluation by Noninvasive Methods in Patients with Nonalcoholic Fatty Liver Disease, Overweight, and Hyperferritinemia(2018) BRANISSO, Paula P. F.; OLIVEIRA, Claudia P.; LEAO FILHO, Hilton M.; SANTOS, Aritania; LIMA, Fabiana R.; MANCINI, Marcio; CARRILHO, Flair Jose; ROCHA, Manoel; CERCATO, Cintia
- Long-term complete remission of large hepatocellular adenoma after bariatric surgery(2021) DANTAS, Anna Carolina Batista; SANTO FILHO, Marco Aurelio; JEISMANN, Vagner Birk; FARIA, Luisa Leitao de; MUNIZ, Renan Rosetti; ROCHA, Manoel de Souza; HERMAN, Paulo; SANTO, Marco AurelioWe report the case of an obese woman with a large hepatocellular adenoma (HCA) of 8.0 cm in diameter, followed for 5 years after Roux-en-Y Gastric Bypass, with a complete radiologic remission of the liver mass. Four other cases have been published with HCA regression after bariatric surgery, but none with longterm follow-up. As the association between obesity and HCA has been increasingly described, bariatric surgery should be considered a therapeutic option for stage 2 obese patients.
- ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia(2014) ALENCAR, Guilherme Asmar; LERARIO, Antonio Marcondes; NISHI, Mirian Yumie; MARIANI, Beatriz Marinho de Paula; ALMEIDA, Madson Queiroz; TREMBLAY, Johanne; HAMET, Pavel; BOURDEAU, Isabelle; ZERBINI, Maria Claudia Nogueira; PEREIRA, Maria Adelaide Albergaria; GOMES, Gilberto Carlos; ROCHA, Manoel de Souza; CHAMBO, Jose Luis; LACROIX, Andre; MENDONCA, Berenice Bilharinho; FRAGOSO, Maria Candida Barisson VillaresContext: Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, usually characterized by functioning adrenal macronodules and increased cortisol production. Familial clustering of PMAH has been described, suggesting an inherited genetic cause for this condition. Objective: The aim of the present study was to identify the gene responsible for familial PMAH. Patients and Methods: Forty-seven individuals of a Brazilian family with PMAH were evaluated. A single-nucleotide polymorphism-based genome-wide linkage analysis followed by whole-exome sequencing were then performed in selected family members. Additionally, 29 other patients with PMAH and 125 randomly selected healthy individuals were studied to validate the genetic findings. Moreover, PMAH tissue was also analyzed through whole-exome sequencing, conventional sequencing, and microsatellite analysis. Results: A heterozygous germline variant in the ARMC5 gene (p.Leu365Pro) was identified by whole-exome sequencing in a candidate genomic region (16p11.2). Subsequently, the same variant was confirmed by conventional sequencing in all 16 affected family members. The variant was predicted to be damaging by in silico methods and was not found in available online databases or in the 125 selected healthy individuals. Seven additional ARMC5 variants were subsequently identified in 5 of 21 patients with apparently sporadic PMAH and in 2 of 3 families with the disease. Further molecular analysis identified a somatic mutational event in 4 patients whose adrenal tissue was available. Conclusions: Inherited autosomal dominant mutations in the ARMC5 gene are a frequent cause of PMAH. Biallelic inactivation of ARMC5 is consistent with its role as a potential tumor suppressor gene.
conferenceObject Inherited Autosomal Dominant Mutations in ARMC5 Gene a Frequent Cause of Primary Macronodular Adrenal Hyperplasia(2014) ALENCAR, Guilherme Asmar; LERARIO, Antonio M.; NISHI, Mirian Yumie; MARIANI, Beatriz M. P.; ALMEIDA, Madson Q.; TREMBLAY, Johanne; HAMET, Pavel; BOURDEAU, Isabelle; ZERBINI, Maria Claudia N.; PEREIRA, Maria Adelaide Albergaria; GOMES, Gilberto Carlos; ROCHA, Manoel Souza; CHAMBO, Jose Luiz; LACROIX, Andre; MENDONCA, Berenice B.; FRAGOSO, Maria Candida Barisson Villares- Case report: Insulinomatosis: description of four sporadic cases and review of the literature(2024) JR, Delmar Muniz Lourenco; CORREA-GIANNELLA, Maria Lucia; SIQUEIRA, Sheila Aparecida Coelho; NERY, Marcia; RIBEIRO, Flavio Galvao; QUEDAS, Elizangela Pereira de Souza; ROCHA, Manoel de Souza; NASCIMENTO, Ramon Marcelino do; PEREIRA, Maria Adelaide AlbergariaThe best-known etiologies of hyperinsulinemic hypoglycemia are insulinoma, non-insulinoma pancreatogenous hypoglycemic syndrome, autoimmune processes, and factitious hypoglycemia. In 2009, a disease not associated with classic genetic syndromes and characterized by the presence of multiple pancreatic lesions was described and named insulinomatosis. We present the clinical and pathologic features of four patients with the diagnosis of insulinomatosis, aggregated new clinical data, reviewed extensively the literature, and illustrated the nature and evolution of this recently recognized disease. One of our patients had isolated (without fasting hypoglycemia) postprandial hypoglycemia, an occurrence not previously reported in the literature. Furthermore, we reported the second case presenting malignant disease. All of them had persistent/recurrent hypoglycemia after the first surgery even with pathology confirming the presence of a positive insulin neuroendocrine tumor. In the literature review, 27 sporadic insulinomatosis cases were compiled. All of them had episodes of fasting hypoglycemia except one of our patients. Only two patients had malignant disease, and one of them was from our series. The suspicion of insulinomatosis can be raised before surgery in patients without genetic syndromes, with multiple tumors in the topographic investigation and in those who had persistent or recurrent hypoglycemia after surgical removal of one or more tumors. The definitive diagnosis is established by histology and immunohistochemistry and requires examination of the ""macroscopically normal pancreas."" Our case series reinforces the marked predominance in women, the high frequency of recurrent hypoglycemia, and consequently, a definitive poor response to the usual surgical treatment.