Luiz Marco
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View article: Association between KRAS mutation and alcohol consumption in Brazilian patients with colorectal cancer
Association between KRAS mutation and alcohol consumption in Brazilian patients with colorectal cancer Open
Colorectal cancer (CRC) is a leading cause of morbidity and mortality worldwide. Detection before metastasis and efficient treatment of disease significantly improve patient survival and quality of life. However, limitations in diagnosis a…
View article: Predictors of Successful Weight Loss in Extremely Obese Individuals Undergoing Roux-en-Y Gastric Bypass Surgery
Predictors of Successful Weight Loss in Extremely Obese Individuals Undergoing Roux-en-Y Gastric Bypass Surgery Open
Lower preoperative BMI and greater weight loss at 12 months were predictors of SWL after RYGB.
View article: Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier
Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier Open
Introduction: Xeroderma pigmentosum (XP), a rare inherited condition, hallmarked by extreme sensitivity to sun exposure resulting in multiple skin cancers and non-malignant skin alterations is attributed to homozygous inactivating pathogen…
View article: From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with <i>SDHB</i> Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass
From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with <i>SDHB</i> Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass Open
The combination of clinical characteristics and diagnostic exams including imaging, laboratory, and molecular tests help in the differential diagnosis of retroperitoneal lesions. We report a 41‐year‐old male with a metastatic retroperitone…
View article: Genetic Variations in <i>AMPK</i>, <i>FOXO3A</i>, and <i>POMC</i> Increase the Risk of Extreme Obesity
Genetic Variations in <i>AMPK</i>, <i>FOXO3A</i>, and <i>POMC</i> Increase the Risk of Extreme Obesity Open
Objective: Genetic variability significantly impacts metabolism, weight gain, and feeding behaviors, predisposing individuals to obesity. This study explored how variations in key genes related to obesity— FOXO3A (forkhead box O3), AMPK (p…
View article: Evaluation of clinical and genetic factors in obstructive sleep apnoea
Evaluation of clinical and genetic factors in obstructive sleep apnoea Open
No genetic variant tested showed a statistically significant association with OSA phenotype. Logistic regression analysis resulted in a predictive model for diagnosing OSA that, if validated by larger prospective studies, could be applied …
View article: 10P An adapted CGP-based model to interpret POLE mutations in endometrial cancer
10P An adapted CGP-based model to interpret POLE mutations in endometrial cancer Open
Endometrial cancer (EC) patients harbouring POLE mutations have been shown exceptionally good survival outcomes allowing de-escalation of adjuvant treatment. POLE encodes for the Pol ε catalytic subunit capable of correcting DNA synthesis …
View article: Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome Open
Background: Obstructive sleep apnea syndrome (OSAS) (OMIM #107650) is characterized by complete or partial obstruction of the upper airways, resulting in periods of sleep associated apnea. OSAS increases morbidity and mortality risk from c…
View article: Comparison between a Phoneutria nigriventer toxin treatment and galantamine treatment in a memory deficit mouse model
Comparison between a Phoneutria nigriventer toxin treatment and galantamine treatment in a memory deficit mouse model Open
Acetylcholine modulates circuits related to cognitive functions (attention, cognitive flexibility, memory, and social interaction). Consequences of low acetylcholine levels in cholinergic synaptic clefts include memory and sociability impa…
View article: Quantitative proteomic study reveals differential expression of matricellular proteins between fibrous dysplasia and cemento‐ossifying fibroma pathogenesis
Quantitative proteomic study reveals differential expression of matricellular proteins between fibrous dysplasia and cemento‐ossifying fibroma pathogenesis Open
Background Fibrous dysplasia (FD) and cemento‐ossifying fibroma (COF) are the most common gnathic fibro‐osseous lesions. These diseases exhibit remarkable overlap of several clinicopathological aspects, and differential diagnosis depends o…
View article: Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders Open
We recently reported a deviation of local ancestry on the chromosome (ch) 8p23.1, which led to positive selection signals in a Brazilian population sample. The deviation suggested that the genetic variability of candidate genes located on …
View article: Telomere shortening as a stress biomarker in children and adolescents affected by natural disasters
Telomere shortening as a stress biomarker in children and adolescents affected by natural disasters Open
Natural disasters have a substantial psychosocial impact. A known biological marker of stress is telomere shortening. In this study, we tested the change in behavior symptoms and telomere length and its shortening in two-time points for ab…
View article: Genetic variability in COVID-19-related genes in the Brazilian population
Genetic variability in COVID-19-related genes in the Brazilian population Open
SARS-CoV-2 employs the angiotensin-converting enzyme 2 (ACE2) receptor and the transmembrane serine protease (TMPRSS2) to infect human lung cells. Previous studies have suggested that different host genetic backgrounds in ACE2 and TMPRSS2 …
View article: Co-occurrence of<i>MEN1</i>p.Gly111fs and<i>AIP</i>p.Arg16His Variants in Familial MEN1 Phenotype
Co-occurrence of<i>MEN1</i>p.Gly111fs and<i>AIP</i>p.Arg16His Variants in Familial MEN1 Phenotype Open
There are conflicting data regarding the functional effects of AIP p.Arg16His and its role in disease development. We demonstrated the co-occurrence of p.Arg16His AIP missense variant in a patient with a bona fide MEN1 mutation. Our findin…
View article: Impact of Ethnicity on Somatic Mutation Rates of Pancreatic Adenocarcinoma
Impact of Ethnicity on Somatic Mutation Rates of Pancreatic Adenocarcinoma Open
Our results highlight the importance of the effect of ethnicity on somatic mutations in Brazilian patients with PDAC.
View article: Issue Information
Issue Information Open
No abstract is available for this article.