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Article ; Online: Disease-modifying genetic factors in cystic fibrosis.

Marson, Fernando A L

2018 Volume 24, Issue 3, Page(s) 296–308

Abstract: Purpose of review: To compile data from the past 10 years regarding the role of modifying genes in cystic fibrosis (CF).: Recent findings: CF is a model disease for understanding of the action of modifying genes. Although it is a monogenic (CFTR) ... ...

Abstract	Purpose of review: To compile data from the past 10 years regarding the role of modifying genes in cystic fibrosis (CF). Recent findings: CF is a model disease for understanding of the action of modifying genes. Although it is a monogenic (CFTR) autosomal recessive disease, CF presents with wide phenotypic variability. In CF, variability occurs with different intensity among patients by each organ, being organ-specific, resulting from the mutual interaction of environmental and genetic factors, including CFTR mutations and various other genes, most of which are associated with inflammatory processes. In individuals, using precision medicine, gene modification studies have revealed individualized responses to drugs depending on particular CFTR mutations and modifying genes, most of which are alternative ion channels. Summary: Studies of modifying genes in CF allow: understanding of clinical variability among patients with the same CFTR genotype; evaluation of precision medicine; understanding of environmental and genetic effects at the organ level; understanding the involvement of genetic variants in inflammatory responses; improvements in genetic counseling; understanding the involvement of genetic variants in inflammatory responses in lung diseases, such as asthma; and understanding the individuality of the person with the disease.
MeSH term(s)	Cystic Fibrosis/complications ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/genetics ; Exocrine Pancreatic Insufficiency/complications ; Exocrine Pancreatic Insufficiency/genetics ; Genetic Therapy ; Genotype ; Humans ; Meconium Ileus/complications ; Meconium Ileus/genetics ; Mutation ; Osteoporosis/complications ; Osteoporosis/genetics ; Precision Medicine
Chemical Substances	Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
Language	English
Publishing date	2018-03-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1285505-4
ISSN	1531-6971 ; 1070-5287 ; 1078-1641
ISSN (online)	1531-6971
ISSN	1070-5287 ; 1078-1641
DOI	10.1097/MCP.0000000000000479
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Article: Air Rescue for Pediatric Trauma in a Metropolitan Region of Brazil: Profiles, Outcomes, and Overtriage Rates.

Colbachini, Paulo C M / Marson, Fernando A L / Peixoto, Andressa O / Sarti, Luisa / Fraga, Andrea M A

Frontiers in pediatrics

2022 Volume 10, Page(s) 890405

Abstract: Besides ensuring a quick response and transport of trauma victims, helicopter support also involves risks to patients and professionals and has higher operational costs. Studying prehospital triage criteria and their relationship with patient overtriage ... ...

Abstract	Besides ensuring a quick response and transport of trauma victims, helicopter support also involves risks to patients and professionals and has higher operational costs. Studying prehospital triage criteria and their relationship with patient overtriage and outcomes is important, particularly in newly established services and in developing countries with limited health budgets. This could help improve the use of the helicopter rescue and provide better management of the costs and risks related to it. The objective of this study was to determine the epidemiologic and severity profiles of pediatric victims of trauma attended by helicopter in a Brazilian Metropolitan Area to evaluate the outcomes and overtriage rates related to pediatric air rescue in the region. We conducted an observational and retrospective study using 49 hospital and prehospital records from victims of trauma aged <18 years old (yo) assisted by helicopter and then transferred to a tertiary University Hospital. Of the 49 patients, 39 (79.6%) individuals were male, and the mean age was 11.3 yo. Vehicular collisions accounted for 15 (30.6%) of the traumas, and traumatic brain injuries occurred in 28 (57.1%) cases. A total of 29 (59.1%) individuals had severe trauma (Injury Severity Score; ISS >15), and 34 (69.4%) required admission to the intensive care unit. Overtriage varied from 18.4 to 40.8% depending on the criteria used for its definition, being more frequent in individuals aged between 1 and 5 yo. Death occurred in 10 (20.4%) patients. On prehospital evaluation, we classified 29/32 (90.6%) patients with severe trauma according to the Pediatric Trauma Score (PTS ≤8) and 18/25 (72%) according to the Revised Trauma Score (RTS ≤11). Of these, 7/29 (24.1%) and 6/18 (33.3%), respectively, presented ISS <15 at in-hospital evaluation. None of the patients with PTS >8 and 3/7 (42.8%) of those with RTS >11 presented ISS >15. In conclusion, air rescue of pediatric trauma victims was used mainly for critically ill individuals, resulting in rates of overtriage compatible with that found in the literature. PTS showed the lowest rates of overtriage within excellent rates of undertriage.
Language	English
Publishing date	2022-06-02
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2022.890405
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Article ; Online: Severe Acute Respiratory Syndrome by SARS-CoV-2 Infection or Other Etiologic Agents Among Brazilian Indigenous Population: An Observational Study from the First Year of Coronavirus Disease (COVID)-19 Pandemic.

Sansone, Nathália M S / Boschiero, Matheus N / Ortega, Manoela M / Ribeiro, Isadora A / Peixoto, Andressa O / Mendes, Roberto T / Marson, Fernando A L

Lancet Regional Health. Americas

2022 Volume 8, Page(s) 100177

Abstract: Background: Indigenous peoples are vulnerable to pandemics, including to the coronavirus disease (COVID)-19, since it causes high mortality and specially, the loss of elderly Indigenous individuals.: Methods: The epidemiological data of severe acute ... ...

Abstract	Background: Indigenous peoples are vulnerable to pandemics, including to the coronavirus disease (COVID)-19, since it causes high mortality and specially, the loss of elderly Indigenous individuals. Methods: The epidemiological data of severe acute respiratory syndrome (SARS) by SARS-CoV-2 infection or other etiologic agents (OEA) among Brazilian Indigenous peoples during the first year of COVID-19 pandemic was obtained from a Brazilian Ministry of Health open-access database to perform an observational study. Considering only Indigenous individuals diagnosed with SARS by COVID-19, the epidemiology data were also evaluated as risk of death. The type of sample collection for virus screening, demographic profile, clinical symptoms, comorbidities, and clinical evolution were evaluated. The primary outcome was considered the death in the Brazilian Indigenous individuals and the secondary outcome, the characteristics of Brazilian Indigenous infected by SARS-CoV-2 or OEA, as the need for intensive care unit admission or the need for mechanical ventilation support. The statistical analysis was done using Logistic Regression Model. Alpha of 0.05. Findings: A total of 3,122 cases of Indigenous individuals with SARS in Brazil were reported during the first year of the COVID-19 pandemic. Of these, 1,994 were diagnosed with COVID-19 and 730/1,816 (40.2%) of them died. The death rate among individuals with SARS-CoV-2 was three-fold increased when compared to the group of individuals with OEA. Several symptoms (myalgia, loss of smell, and sore throat) and comorbidities (cardiopathy, systemic arterial hypertension, and diabetes mellitus) were more prevalent in the COVID-19 group when compared to Indigenous individuals with OEA. Similar profile was observed considering the risk of death among the Indigenous individuals with COVID-19 who presented several symptoms (oxygen saturation <95%, dyspnea, and respiratory distress) and comorbidities (renal disorders, cardiopathy, and diabetes mellitus). The multivariate analysis was significant in differentiating between the COVID-19-positive and non-COVID-19 patients [X Interpretation: The Brazilian Indigenous peoples are in a vulnerable situation during the COVID-19 pandemic and presented an increased risk of death due to COVID-19. Several factors were associated with enhanced risk of death, as male sex, older age (≥60 y.o.), and need for ventilatory support; also, other factors might help to differentiate SARS by COVID-19 or by OEA, as older age (≥43 y.o.), loss of smell, and fever. Funding: Fundação de Amparo à Pesquisa do Estado de São Paulo (Foundation for Research Support of the State of São Paulo; #2021/05810-7).
Language	English
Publishing date	2022-01-07
Publishing country	England
Document type	Journal Article
ISSN	2667-193X
ISSN (online)	2667-193X
DOI	10.1016/j.lana.2021.100177
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Article: Personalized or Precision Medicine? The Example of Cystic Fibrosis.

Marson, Fernando A L / Bertuzzo, Carmen S / Ribeiro, José D

Frontiers in pharmacology

2017 Volume 8, Page(s) 390

Abstract: The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With the genetic knowledge, the specificity of the clinical phenotype and the drug response of each ...

Abstract	The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With the genetic knowledge, the specificity of the clinical phenotype and the drug response of each individual were understood. Using the cystic fibrosis (CF) as an example, the new terms that emerged such as personalized medicine and precision medicine can be characterized. The genetic knowledge in CF is broad and the presence of a monogenic disease caused by mutations in the
Language	English
Publishing date	2017-06-20
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2587355-6
ISSN	1663-9812
ISSN	1663-9812
DOI	10.3389/fphar.2017.00390
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Article ; Online: Comparative analysis of rhinologic outcomes in Cushing disease and non-functioning pituitary adenoma in patients submitted to endoscopic endonasal transsphenoidal surgery.

Toro, Mariana D C / Serrano, Thiago L I / Marson, Fernando A L / Chone, Carlos T / Dal Fabbro, Mateus / Sakano, Eulália / Sampaio, Marcelo H

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

2020 Volume 277, Issue 8, Page(s) 2371–2374

Abstract: Purpose: Adrenocorticotropic hormone (ACTH) secreted by pituitary tumors lead to changes in nasal cavity anatomy and physiology. As a consequence of hormonal alteration, there is an abnormal soft tissue and an increased capillary fragility, inducting to ...

Abstract	Purpose: Adrenocorticotropic hormone (ACTH) secreted by pituitary tumors lead to changes in nasal cavity anatomy and physiology. As a consequence of hormonal alteration, there is an abnormal soft tissue and an increased capillary fragility, inducting to a thinner mucosa that acts in the healing process. We compared post-operative nasal alterations in patients with Cushing's disease versus patients with non-functioning macroadenomas who underwent endoscopic endonasal transsphenoidal surgery. Methods: A retrospective study with 14 patients with Cushing's disease who underwent initial transsphenoidal endonasal surgery for an ACTH-secreting adenoma was conducted. Forty-two patients who underwent the same surgery for non-functioning adenomas were selected as controls. The following data were collected: operative technique, endoscopic alterations in late post-operative period and post-operative nasal complaints. Results: There were 13/14 (92.9%) females with Cushing disease versus 23/42 (54.8%) in the non-functioning adenoma group. Surgical approach was similar in both groups, with no differences in flap usage, turbinectomies or ethmoidectomies. No difference occurred concerning endoscopic alterations or nasal complaints in post-operative period. Conclusions: Post-operative results are similar, and healing could be expected to be equal.
MeSH term(s)	Adenoma/complications ; Adenoma/surgery ; Endoscopy ; Female ; Humans ; Pituitary ACTH Hypersecretion/surgery ; Pituitary Neoplasms/complications ; Pituitary Neoplasms/surgery ; Retrospective Studies ; Treatment Outcome
Language	English
Publishing date	2020-04-28
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1017359-6
ISSN	1434-4726 ; 0937-4477
ISSN (online)	1434-4726
ISSN	0937-4477
DOI	10.1007/s00405-020-05974-0
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Article: Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis.

Silva, Iris A L / Duarte, Aires / Marson, Fernando A L / Centeio, Raquel / Doušová, Tereza / Kunzelmann, Karl / Amaral, Margarida D

Frontiers in physiology

2020 Volume 11, Page(s) 604580

Abstract: Most cases of Cystic Fibrosis (CF) are diagnosed early in life. However, people with atypical CF forms pose diagnosis dilemmas, requiring laboratory support for diagnosis confirmation/exclusion. ...

Abstract	Most cases of Cystic Fibrosis (CF) are diagnosed early in life. However, people with atypical CF forms pose diagnosis dilemmas, requiring laboratory support for diagnosis confirmation/exclusion.
Language	English
Publishing date	2020-12-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2020.604580
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Article ; Online: Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis.

Pereira, Stephanie V N / Ribeiro, Jose D / Bertuzzo, Carmen S / Marson, Fernando A L

Pediatric pulmonology

2018 Volume 53, Issue 7, Page(s) 888–900

Abstract: Background: Cystic fibrosis (CF) is due to dysfunction of the CFTR channel and function of this channel is, in turn, affected by modifier genes that can impact the clinical phenotype. In this context, we analyzed the interaction among rs3788766*SLC6A14, ...

Abstract	Background: Cystic fibrosis (CF) is due to dysfunction of the CFTR channel and function of this channel is, in turn, affected by modifier genes that can impact the clinical phenotype. In this context, we analyzed the interaction among rs3788766SLC6A14, rs7512462SLC26A9, rs17235416SLC11A1, and rs17563161SLC9A3 variants, CFTR mutations and 40 CF severity markers by the Multifactor Dimensionality Reduction (MDR) model. Methods: A total of 164 patients with CF were included in the study. The variants in the modifier genes were identified by real-time PCR and the genotype of the CFTR gene in the diagnostic routine. Analysis of interaction between variants, CFTR mutations groupings and demographic, clinical and laboratory data were performed by the MDR. Results: There were interaction between the rs3788766, rs7512462, rs17235416, and rs17563161 variants, and CFTR mutations with pancreatic insufficiency (PI), onset of digestive symptoms, and presence of mucoid Pseudomonas aeruginosa. Regarding PI, the interaction was observed for CFTRrs17563161 (P-value = 0.015). Also, for onset of digestive symptoms the interaction was observed for CFTRrs3788766rs7512462rs17235416rs17563161 (P-value = 0.036). Considering the presence of mucoid P. aeruginosa, the interaction occurred for CFTRrs3788766rs7512462rs17563161 (P-value = 0.035). Conclusion: Interaction between variants in the SLC family genes and the grouping for CFTR mutations were associated with PI, onset of digestive symptoms and mucoid P. aeruginosa, being important to determine one of the factors that may cause the diversity among the patients with CF.
MeSH term(s)	Adolescent ; Adult ; Aged ; Biomarkers ; Child ; Child, Preschool ; Cystic Fibrosis/complications ; Cystic Fibrosis/genetics ; Cystic Fibrosis/microbiology ; Exocrine Pancreatic Insufficiency/complications ; Exocrine Pancreatic Insufficiency/genetics ; Exocrine Pancreatic Insufficiency/microbiology ; Female ; Genotype ; Humans ; Infant ; Male ; Membrane Transport Proteins/genetics ; Middle Aged ; Mutation ; Phenotype ; Pseudomonas Infections/complications ; Pseudomonas Infections/genetics ; Pseudomonas Infections/microbiology ; Pseudomonas aeruginosa ; Young Adult
Chemical Substances	Biomarkers ; Membrane Transport Proteins
Language	English
Publishing date	2018-04-10
Publishing country	United States
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	632784-9
ISSN	1099-0496 ; 8755-6863
ISSN (online)	1099-0496
ISSN	8755-6863
DOI	10.1002/ppul.24005
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Article: Lipase C, Hepatic Type −250A/G (rs2070895) Variant Enhances Carotid Atherosclerosis in Normolipidemic and Asymptomatic Individuals from Brazil

Zago, Vanessa H. S. / Parra, Eliane S. / Virgínio, Vítor W. M. / Vendrame, Felipe / Gomes, Érica I. L. / Scherrer, Daniel Z. / Marson, Fernando A. L. / de Faria, Eliana C.

Lipids. 2020 May, v. 55, no. 3

2020

Abstract: The common genetic variant in the promoter region of the hepatic lipase gene [LIPC −250G/A(rs2070895)] has an ambiguous association with cardiovascular disease. In this context, our study was performed to identify the relationships between the rs2070895 ... ...

Abstract	The common genetic variant in the promoter region of the hepatic lipase gene [LIPC −250G/A(rs2070895)] has an ambiguous association with cardiovascular disease. In this context, our study was performed to identify the relationships between the rs2070895 with carotid atherosclerosis, plasma lipids, and parameters of reverse cholesterol transport. A total of 285 normolipidemic and asymptomatic participants from an initial sample of 598,288 individuals (inclusion criteria: LDL‐C ≤130 mg/dL and triglycerides ≤150 mg/dL; age: 20–75 years, both genders; confirmation of clinical, anthropometric and laboratory data; attended all visits; DNA was achieved to perform genetic analysis) were enrolled and the rs2070895 variant was genotyped by TaqMan® OpenArray® Plataform. Carotid intima‐media thickness and the screening of atherosclerotic plaques were determined by B‐mode ultrasonography. The rs2070895 genotype frequencies were 0.44, 0.41, and 0.15 (GG, GA, and AA, respectively). Logistic regression analysis showed that the risk of having plaques was increased in participants carrying the AA or AG genotypes (OR = 3.90; 95% CI = 1.54–10.33), despite an increase in high‐density lipoprotein cholesterol levels, HDL diameter and apolipoprotein A‐I, as compared to the GG genotype. Hepatic lipase and endogenous lecithin cholesterol acyl transferase activities were reduced (38% and 19%, respectively) and lipoprotein lipase was increased by 30% (AA vs GG). Our results provide evidence that the AA or AG genotypes of the rs2070895 were associated with carotid atherosclerosis in apparently healthy participants, probably as a consequence of reduced reverse cholesterol transport and accumulation of HDL subfraction 2 rich in triglycerides and depleted in cholesteryl esters that could become dysfunctional.
Keywords	DNA ; apolipoprotein A-I ; atherosclerosis ; genes ; genetic analysis ; genotype ; genotyping ; high density lipoprotein cholesterol ; lecithins ; lipoprotein lipase ; promoter regions ; regression analysis ; risk ; ultrasonography ; Brazil
Language	English
Dates of publication	2020-05
Size	p. 225-237.
Publishing place	John Wiley & Sons, Inc.
Document type	Article
Note	JOURNAL ARTICLE
ZDB-ID	241539-2
ISSN	1558-9307 ; 0024-4201
ISSN (online)	1558-9307
ISSN	0024-4201
DOI	10.1002/lipd.12232
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Article: Potential Lipid Signatures for Diagnosis and Prognosis of Sepsis and Systemic Inflammatory Response Syndrome.

Mecatti, Giovana Colozza / Sánchez-Vinces, Salvador / Fernandes, Anna Maria A P / Messias, Marcia C F / de Santis, Gabrielle K D / Porcari, Andreia M / Marson, Fernando A L / Carvalho, Patrícia de Oliveira

Metabolites

2020 Volume 10, Issue 9

Abstract: Systemic inflammatory response syndrome (SIRS) and sepsis are two conditions which are difficult to differentiate clinically and which are strongly impacted for prompt intervention. This study identified potential lipid signatures that are able to ... ...

Abstract	Systemic inflammatory response syndrome (SIRS) and sepsis are two conditions which are difficult to differentiate clinically and which are strongly impacted for prompt intervention. This study identified potential lipid signatures that are able to differentiate SIRS from sepsis and to predict prognosis. Forty-two patients, including 21 patients with sepsis and 21 patients with SIRS, were involved in the study. Liquid chromatography coupled to mass spectrometry and multivariate statistical methods were used to determine lipids present in patient plasma. The obtained lipid signatures revealed 355 features for the negative ion mode and 297 for the positive ion mode, which were relevant for differential diagnosis of sepsis and SIRS. These lipids were also tested as prognosis predictors. Lastly, L-octanoylcarnitine was found to be the most promising lipid signature for both the diagnosis and prognosis of critically ill patients, with accuracies of 75% for both purposes. In short, we presented the determination of lipid signatures as a potential tool for differential diagnosis of sepsis and SIRS and prognosis of these patients.
Language	English
Publishing date	2020-09-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662251-8
ISSN	2218-1989
ISSN	2218-1989
DOI	10.3390/metabo10090359
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Article ; Online: Lipase C, Hepatic Type -250A/G (rs2070895) Variant Enhances Carotid Atherosclerosis in Normolipidemic and Asymptomatic Individuals from Brazil.

Zago, Vanessa H S / Parra, Eliane S / Virgínio, Vítor W M / Vendrame, Felipe / Gomes, Érica I L / Scherrer, Daniel Z / Marson, Fernando A L / de Faria, Eliana C

Lipids

2020 Volume 55, Issue 3, Page(s) 225–237

Abstract: The common genetic variant in the promoter region of the hepatic lipase gene [LIPC -250G/A(rs2070895)] has an ambiguous association with cardiovascular disease. In this context, our study was performed to identify the relationships between the rs2070895 ... ...

Abstract	The common genetic variant in the promoter region of the hepatic lipase gene [LIPC -250G/A(rs2070895)] has an ambiguous association with cardiovascular disease. In this context, our study was performed to identify the relationships between the rs2070895 with carotid atherosclerosis, plasma lipids, and parameters of reverse cholesterol transport. A total of 285 normolipidemic and asymptomatic participants from an initial sample of 598,288 individuals (inclusion criteria: LDL-C ≤130 mg/dL and triglycerides ≤150 mg/dL; age: 20-75 years, both genders; confirmation of clinical, anthropometric and laboratory data; attended all visits; DNA was achieved to perform genetic analysis) were enrolled and the rs2070895 variant was genotyped by TaqMan® OpenArray® Plataform. Carotid intima-media thickness and the screening of atherosclerotic plaques were determined by B-mode ultrasonography. The rs2070895 genotype frequencies were 0.44, 0.41, and 0.15 (GG, GA, and AA, respectively). Logistic regression analysis showed that the risk of having plaques was increased in participants carrying the AA or AG genotypes (OR = 3.90; 95% CI = 1.54-10.33), despite an increase in high-density lipoprotein cholesterol levels, HDL diameter and apolipoprotein A-I, as compared to the GG genotype. Hepatic lipase and endogenous lecithin cholesterol acyl transferase activities were reduced (38% and 19%, respectively) and lipoprotein lipase was increased by 30% (AA vs GG). Our results provide evidence that the AA or AG genotypes of the rs2070895 were associated with carotid atherosclerosis in apparently healthy participants, probably as a consequence of reduced reverse cholesterol transport and accumulation of HDL subfraction 2 rich in triglycerides and depleted in cholesteryl esters that could become dysfunctional.
MeSH term(s)	Adult ; Aged ; Asymptomatic Diseases ; Brazil ; Carotid Artery Diseases/blood ; Carotid Artery Diseases/genetics ; Cholesterol/blood ; Female ; Genetic Association Studies ; Humans ; Lipase/genetics ; Lipids/blood ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Young Adult
Chemical Substances	LIPC protein, human ; Lipids ; Cholesterol (97C5T2UQ7J) ; Lipase (EC 3.1.1.3)
Language	English
Publishing date	2020-03-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	241539-2
ISSN	1558-9307 ; 0024-4201
ISSN (online)	1558-9307
ISSN	0024-4201
DOI	10.1002/lipd.12232
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