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Article ; Online: The ultimatum bargaining game: An adaptation for teaching ethics.

Bertolami, Charles N / Opazo, Cristián / Janal, Malvin N

2021 Volume 86, Issue 4, Page(s) 437–442

Abstract: Purpose: The ultimatum bargaining game has been devised by economists to measure fairness and generosity during negotiations. This study sought to adapt the game to classroom application with the intent of (a) determining whether the known outcomes ... ...

Abstract	Purpose: The ultimatum bargaining game has been devised by economists to measure fairness and generosity during negotiations. This study sought to adapt the game to classroom application with the intent of (a) determining whether the known outcomes would be replicated given modifications needed to make the game suitable as an educational tool and (b) sharing the resulting self-appraisal with students themselves. Methods: A total of 452 first-year dental students participated in this adaptation as part of a classroom exercise. Students, identified as donors, were allocated an imaginary stake of $100 and asked to share some amount of it with a recipient classmate by making a nonnegotiable, one-time offer. If the offer is accepted, the donor student retains any residual amount. If the offer is rejected, neither the donor nor recipient receives anything. The question being tested is whether student fairness and/or generosity change when the preferred donor status is assigned at random versus on the basis of an earned property entitlement represented here by a higher-class rank. Results and conclusion: When status as Group A donors was established at random, the majority of students offered their fictitious Group B counterpart the fairest possible amount of $50 (70.4% in 2020 and 61% in 2018). However, when students were told that their status as Group A donors would be established based on their ranking in the upper half of the class, the percentage offering the fairest amount declined to 49.5% in 2020 and to 51.8% in 2018. This outcome was available for immediate disclosure to students during the classroom session; it was consistent with results previously reported for the ultimatum bargaining game; and it showed that when a property entitlement is perceived as having been earned (manifested by a higher-class rank), fairness and generosity decline.
MeSH term(s)	Games, Experimental ; Humans ; Negotiating ; Teaching
Language	English
Publishing date	2021-11-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	410579-5
ISSN	1930-7837 ; 0022-0337
ISSN (online)	1930-7837
ISSN	0022-0337
DOI	10.1002/jdd.12815
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Article ; Online: A question of intent: Application of the Knobe effect in teaching ethics.

Bertolami, Charles N / Opazo, Cristián / Janal, Malvin N

Journal of dental education

2021 Volume 85, Issue 8, Page(s) 1404–1407

Abstract: Purpose/objectives: The Knobe effect refers to a measurable tendency among people to believe that undesirable side effects are brought about intentionally while desirable side effects are brought about unintentionally. People blame decision-makers for ... ...

Abstract	Purpose/objectives: The Knobe effect refers to a measurable tendency among people to believe that undesirable side effects are brought about intentionally while desirable side effects are brought about unintentionally. People blame decision-makers for bad outcomes but do not credit them for good outcomes. The purpose of this study was to determine if the same is true for dental students and whether, as health care practitioners, students might mistakenly expect a benefit-of-the-doubt entitlement for themselves that the public is unwilling to bestow when an outcome is bad. Methods: Over three years, roughly 500 first-year dental students were posed two previously published standardized Knobe cases requiring a yes/no response. The survey was conducted as part of a classroom exercise with aggregated responses recorded digitally, anonymously, in real time. Results: The Knobe phenomenon was confirmed among dental students but the effect was muted in comparison to that of the public. Dental students aligned with the general public in declining credit for a good outcome but not in attributing blame for a bad outcome. Overall, dental students' negative responses exceeded their positive responses for both questions-confirming the Knobe effect but also revealing that dental students were less willing to take a stance by positively assigning either praise or blame. Conclusion: Using an in-class survey instrument to demonstrate the Knobe effect among dental students may be one way of making more concrete an unjustified benefit-of-the-doubt entitlement these future professionals may otherwise expect for themselves.
MeSH term(s)	Humans ; Students, Dental ; Teaching
Language	English
Publishing date	2021-04-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	410579-5
ISSN	1930-7837 ; 0022-0337
ISSN (online)	1930-7837
ISSN	0022-0337
DOI	10.1002/jdd.12602
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Article ; Online: TREML4 polymorphisms increase the mRNA in blood leukocytes in the progression of atherosclerosis.

Duarte, Victor Hugo Rezende / Cruz, Marina Sampaio / Bertolami, Adriana / Hirata, Mario Hiroyuki / Hirata, Rosario Dominguez Crespo / Luchessi, André Ducati / Silbiger, Vivian Nogueira

Scientific reports

2022 Volume 12, Issue 1, Page(s) 18612

Abstract: ... its polymorphisms (rs2803495 and rs280396) was evaluated in patients with subclinical atherosclerosis (n = 340) and ... heart failure post-acute myocardial infarction (MI) (n = 68) for the first time. TREML4 variants rs2803495 ... A > G) and rs2803496 (T > C) and leukocyte mRNA expression was analyzed by qRT-PCR. The rs2803495 G ...

Abstract	TREML4 and other members of the triggering receptor expressed in the myeloid cell family are associated with a risk of atherosclerosis and progression in coronary artery disease, acute coronary syndrome, and coronary artery calcification. Herein, the relationship between TREML4 expression and its polymorphisms (rs2803495 and rs280396) was evaluated in patients with subclinical atherosclerosis (n = 340) and heart failure post-acute myocardial infarction (MI) (n = 68) for the first time. TREML4 variants rs2803495 (A > G) and rs2803496 (T > C) and leukocyte mRNA expression was analyzed by qRT-PCR. The rs2803495 G allele was associated with TREML4 expression (OR 8.01, CI 3.78-16.99, p < 0.001). Patients carrying the rs2803496 C minor allele (TC/CC genotypes) were more likely to express TREML4 than those without the C allele (OR 10.42, CI 4.76-22.78, p < 0.001), as well as having higher levels of TREML4 expression (OR 4.88, CI 2.35-10.12, p < 0.001). Thus, we report for the first time that TREML4 is not associated with the early stages of atherosclerotic plaque formation and later stages after MI. In conclusion, TREML4 mRNA expression in blood leukocytes is influenced by minor alleles (G and C) and may regulate differently during the atherosclerosis progression stages, but not in asymptomatic atherosclerosis disease and post-MI.
MeSH term(s)	Humans ; RNA, Messenger/genetics ; Atherosclerosis/genetics ; Atherosclerosis/complications ; Polymorphism, Genetic ; Alleles ; Coronary Artery Disease/genetics ; Coronary Artery Disease/complications ; Leukocytes/metabolism ; Genotype ; Myocardial Infarction/genetics ; Myocardial Infarction/complications ; Risk Factors ; Receptors, Immunologic/metabolism
Chemical Substances	RNA, Messenger ; TREML4 protein, human ; Receptors, Immunologic
Language	English
Publishing date	2022-11-03
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-22040-3
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Article ; Online: Using numerical methods from nonlocal optics to simulate the dynamics of N-body systems in alternative theories of gravity.

Ferreira, Tiago D / Silva, Nuno A / Bertolami, O / Gomes, C / Guerreiro, A

Physical review. E

2020 Volume 101, Issue 2-1, Page(s) 23301

Abstract: The generalized Schrödinger-Newton system of equations with both local and nonlocal nonlinearities is widely used to describe light propagating in nonlinear media under the paraxial approximation. However, its use is not limited to optical systems and ... ...

Abstract	The generalized Schrödinger-Newton system of equations with both local and nonlocal nonlinearities is widely used to describe light propagating in nonlinear media under the paraxial approximation. However, its use is not limited to optical systems and can be found to describe a plethora of different physical phenomena, for example, dark matter or alternative theories for gravity. Thus, the numerical solvers developed for studying light propagating under this model can be adapted to address these other phenomena. Indeed, in this work we report the development of a solver for the HiLight simulations platform based on GPGPU supercomputing and the required adaptations for this solver to be used to test the impact of new extensions of the Theory of General Relativity in the dynamics of the systems. In this work we shall analyze theories with nonminimal coupling between curvature and matter. This approach in the study of these new models offers a quick way to validate them since their analytical analysis is difficult. The simulation module, its performance, and some preliminary tests are presented in this paper.
Language	English
Publishing date	2020-03-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	2844562-4
ISSN	2470-0053 ; 2470-0045
ISSN (online)	2470-0053
ISSN	2470-0045
DOI	10.1103/PhysRevE.101.023301
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Article ; Online: Beck Self-Esteem Scale-Short Form: Development and psychometric evaluation of a scale for the assessment of self-concept in schizophrenia.

Thomas, Elizabeth C / Murakami-Brundage, Jessica / Bertolami, Nina / Beck, Aaron T / Grant, Paul M

Psychiatry research

2018 Volume 263, Page(s) 173–180

Abstract: A requisite step for testing cognitive theories regarding the role of self-concept in schizophrenia is the development of measures that follow a cognitive conceptualization and better capture the multifaceted nature of this construct. The purpose of this ...

Abstract	A requisite step for testing cognitive theories regarding the role of self-concept in schizophrenia is the development of measures that follow a cognitive conceptualization and better capture the multifaceted nature of this construct. The purpose of this study was to examine the psychometric properties a new self-concept measure, the Beck Self-Esteem Scale-Short Form (BSES-SF), based on a sample of 204 individuals with schizophrenia or schizoaffective disorder. We evaluated the BSES-SF's dimensionality, internal consistency reliability, and construct and divergent validity using confirmatory factor analysis, Cronbach's alpha, Pearson correlations, independent samples t-tests, and one-way analysis of variance. Findings indicate that the 10-item BSES-SF is a reliable and valid measure of self-concept that is appropriate for a broad group of individuals with schizophrenia spectrum disorders. Following cognitive theory, the scale demonstrated significant relationships with delusion severity, motivation, and depression, further signifying its utility for research and practice efforts that are designed to address psychopathology in schizophrenia.
MeSH term(s)	Adolescent ; Adult ; Aged ; Depression/diagnosis ; Depression/epidemiology ; Depression/psychology ; Female ; Humans ; Male ; Middle Aged ; Motivation ; Psychiatric Status Rating Scales/standards ; Psychometrics ; Reproducibility of Results ; Schizophrenia/diagnosis ; Schizophrenia/epidemiology ; Schizophrenic Psychology ; Self Concept ; Self Report/standards ; Young Adult
Language	English
Publishing date	2018-03-06
Publishing country	Ireland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	445361-x
ISSN	1872-7123 ; 1872-7506 ; 0925-4927 ; 0165-1781
ISSN (online)	1872-7123 ; 1872-7506
ISSN	0925-4927 ; 0165-1781
DOI	10.1016/j.psychres.2018.02.053
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Article: Rationalizing the dental curriculum in light of current disease prevalence and patient demand for treatment: form vs. content.

Bertolami, C N

Journal of dental education

2001 Volume 65, Issue 8, Page(s) 725–735; discussion 736–43

Abstract: The premise of this paper is that the form and content of dental education do not reinforce each other. What results is suboptimal learning; dissatisfied students; difficulty generating excitement among the brightest to consider careers in dental ... ...

Abstract	The premise of this paper is that the form and content of dental education do not reinforce each other. What results is suboptimal learning; dissatisfied students; difficulty generating excitement among the brightest to consider careers in dental education; erosion of dentists' self-identity as men and women of science; and doubts over whether dental schools can continue as the primary providers of oral health education. A need for reform exists because dental curricula must be responsive to changes in current and projected disease demographics, to advances in science and technology, and to a changing societal culture affecting patient demand for treatment. Today's dilemma is that dental schools need to continue to graduate competent practitioners to meet present clinical needs while also preparing students for a radically different kind of practice in the future. Possible approaches to resolve this dilemma include: a shift between what constitutes general practice and what constitutes specialty practice; and, the implementation of an asynchronous-distributed model of dental education. Such changes will likely be independently accompanied by changes in the role of universities in society in general that could make feasible many, now-unthinkable, alternative vehicles for providing dental education.
MeSH term(s)	Credentialing ; Curriculum ; Education, Dental/trends ; Health Services Needs and Demand ; Health Transition ; Humans ; Models, Educational ; Oral Health ; Patient Participation ; Problem-Based Learning ; Specialization ; Specialties, Dental/education
Language	English
Publishing date	2001-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	410579-5
ISSN	1930-7837 ; 0022-0337
ISSN (online)	1930-7837
ISSN	0022-0337
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Article ; Online: Excess weight mediates changes in HDL pool that reduce cholesterol efflux capacity and increase antioxidant activity.

de Lima-Junior, Jose Carlos / Virginio, Vitor W M / Moura, Filipe A / Bertolami, Adriana / Bertolami, Marcelo / Coelho-Filho, Otavio R / Zanotti, Ilaria / Nadruz, Wilson / de Faria, Eliana Cotta / de Carvalho, Luiz Sergio F / Sposito, Andrei C

Nutrition, metabolism, and cardiovascular diseases : NMCD

2019 Volume 30, Issue 2, Page(s) 254–264

Abstract: ... in a randomly-selected subgroup (n = 101). Individuals with increased HDL-C had an attenuated increase in cIMT ... with elevation of BMI (interaction effect β = -0.054; CI 95% -0.0815, -0.0301). CEC, HDL-C, HDL size and HDL ...

Abstract	Background and aim: Obesity-related decline in high-density lipoprotein (HDL) functions such as cholesterol efflux capacity (CEC) has supported the notion that this lipoprotein dysfunction may contribute for atherogenesis among obese patients. We investigated if potentially other HDL protective actions may be affected with weight gain and these changes may occur even before the obesity range in a cross-sectional analysis. Methods and results: Lipid profile, body mass index (BMI), biochemical measurements, and carotid intima-media thickness (cIMT) were obtained in this cross-sectional study with 899 asymptomatic individuals. Lipoproteins were separated by ultracentrifugation and HDL physical-chemical characterization, CEC, antioxidant activity, anti-inflammatory activity, HDL-mediated platelet aggregation inhibition were measured in a randomly-selected subgroup (n = 101). Individuals with increased HDL-C had an attenuated increase in cIMT with elevation of BMI (interaction effect β = -0.054; CI 95% -0.0815, -0.0301). CEC, HDL-C, HDL size and HDL-antioxidant activity were negatively associated with cIMT. BMI was inversely correlated with HDL-mediated inhibition of platelet aggregation (Spearman's rho -0.157, p < 0.03) and CEC (Spearman's rho -0.32, p < 0.001), but surprisingly it was directly correlated with the antioxidant activity (Spearman's rho 0.194, p = 0.052). Thus, even in non-obese, non-diabetic individuals, increased BMI is associated with a wide change in protective functions of HDL, reducing CEC and increasing antioxidant activity. In these subjects, decreased HDL concentration, size or function are related to increased atherosclerotic burden. Conclusion: Our findings demonstrate that in non-obese, non-diabetic individuals, the increasing values of BMI are associated with impaired protective functions of HDL and concomitant increase in atherosclerotic burden.
MeSH term(s)	Adult ; Aged ; Antioxidants/analysis ; Biomarkers/blood ; Body Mass Index ; Carotid Artery Diseases/blood ; Carotid Artery Diseases/diagnostic imaging ; Carotid Artery Diseases/physiopathology ; Carotid Intima-Media Thickness ; Cholesterol, HDL/blood ; Cross-Sectional Studies ; Dyslipidemias/blood ; Dyslipidemias/diagnosis ; Dyslipidemias/physiopathology ; Female ; Humans ; Male ; Middle Aged ; Overweight/blood ; Overweight/diagnosis ; Overweight/physiopathology ; Platelet Aggregation ; Risk Assessment ; Risk Factors ; Weight Gain ; Young Adult
Chemical Substances	Antioxidants ; Biomarkers ; Cholesterol, HDL
Language	English
Publishing date	2019-09-23
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1067704-5
ISSN	1590-3729 ; 0939-4753
ISSN (online)	1590-3729
ISSN	0939-4753
DOI	10.1016/j.numecd.2019.09.017
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Article ; Online: Daptomycin: a comparison of two intravenous formulations.

Frankenfeld, Celeste / Mittal, Sachin / Melendez, Yanira / Mendez-Vigo, Luke / Lamp, Kenneth C / Keller, Kaitlin N / Bertolami, Shellie R

Drug design, development and therapy

2018 Volume 12, Page(s) 1953–1958

Abstract: Daptomycin is a cyclic lipopeptide antibacterial agent with potent bactericidal activity against a broad range of Gram-positive organisms. In 2003, daptomycin for injection received approval from the US Food and Drug Administration (FDA) for the ... ...

Abstract	Daptomycin is a cyclic lipopeptide antibacterial agent with potent bactericidal activity against a broad range of Gram-positive organisms. In 2003, daptomycin for injection received approval from the US Food and Drug Administration (FDA) for the treatment of patients with complicated skin and skin structure infections (cSSSIs); in 2006, it was approved for the treatment of patients with
MeSH term(s)	Administration, Intravenous ; Anti-Bacterial Agents/administration & dosage ; Anti-Bacterial Agents/pharmacology ; Daptomycin/administration & dosage ; Daptomycin/pharmacology ; Drug Compounding ; Humans ; Microbial Sensitivity Tests ; Staphylococcal Infections/drug therapy ; Staphylococcal Infections/microbiology ; Staphylococcus aureus/drug effects ; United States ; United States Food and Drug Administration
Chemical Substances	Anti-Bacterial Agents ; Daptomycin (NWQ5N31VKK)
Language	English
Publishing date	2018-06-29
Publishing country	New Zealand
Document type	Comparative Study ; Journal Article ; Review
ZDB-ID	2451346-5
ISSN	1177-8881 ; 1177-8881
ISSN (online)	1177-8881
ISSN	1177-8881
DOI	10.2147/DDDT.S167010
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Article ; Online: Ustekinumab is a promising option for the treatment of postoperative recurrence of Crohn's disease.

Macaluso, Fabio Salvatore / Grova, Mauro / Mocciaro, Filippo / Di Mitri, Roberto / Privitera, Antonino Carlo / Distefano, Maria Emanuela / Vitello, Alessandro / Camilleri, Salvatore / Ferracane, Concetta / Pluchino, Dario / Belluardo, Nunzio / Giangreco, Emiliano / Fries, Walter / Viola, Anna / Cappello, Maria / D'Amato, Livia / Bertolami, Carmelo / Ventimiglia, Marco / Renna, Sara /

Casà, Angelo / D'Antonio, Elvira / De Vivo, Simona / Orlando, Ambrogio

Journal of gastroenterology and hepatology

2023 Volume 38, Issue 9, Page(s) 1503–1509

Abstract: Background and aim: Postoperative recurrence (POR) following ileocolonic resection is a major concern in patients with Crohn's disease (CD). The role of ustekinumab (UST) in this setting is poorly known.: Methods: All consecutive CD patients with a ... ...

Abstract	Background and aim: Postoperative recurrence (POR) following ileocolonic resection is a major concern in patients with Crohn's disease (CD). The role of ustekinumab (UST) in this setting is poorly known. Methods: All consecutive CD patients with a baseline colonoscopy at 6-12 months from ileocolonic resection showing POR (Rutgeerts score ≥ i2) who were treated with UST after the baseline colonoscopy and with an available post-treatment endoscopy, were extracted from the cohort of the Sicilian Network for Inflammatory Bowel Diseases (SN-IBD). The primary outcome was endoscopic success, defined as reduction of at least one point of Rutgeerts score. The secondary outcome was clinical success, assessed at the end of follow-up. Reasons for clinical failure included mild clinical relapse (Harvey-Bradshaw index 5-7), clinically relevant relapse (Harvey-Bradshaw index > 7), and need for new resection. Results: Forty-four patients were included (mean follow-up: 17.8 ± 8.4 months). The baseline postoperative colonoscopy showed severe POR (Rutgeerts score i3 or i4) in 75.0% of patients. The post-treatment colonoscopy was performed after a mean of 14.5 ± 5.5 months following initiation of UST. Endoscopic success was reported in 22 out of 44 (50.0%) patients, of whom 12 (27.3%) achieved a Rutgeerts score i0 or i1. Clinical success at the end of follow-up was reported in 32 out of 44 patients (72.7%); none of the 12 patients with clinical failure had achieved endoscopic success at post-treatment colonoscopy. Conclusions: Ustekinumab could be a promising option for the treatment of POR of CD.
MeSH term(s)	Humans ; Crohn Disease/drug therapy ; Crohn Disease/surgery ; Ustekinumab/therapeutic use ; Colon/surgery ; Neoplasm Recurrence, Local ; Colonoscopy ; Recurrence ; Retrospective Studies
Chemical Substances	Ustekinumab (FU77B4U5Z0)
Language	English
Publishing date	2023-05-06
Publishing country	Australia
Document type	Journal Article
ZDB-ID	632882-9
ISSN	1440-1746 ; 0815-9319
ISSN (online)	1440-1746
ISSN	0815-9319
DOI	10.1111/jgh.16208
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Article ; Online: Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.

Borges, Jéssica Bassani / Oliveira, Victor Fernandes / Dagli-Hernandez, Carolina / Ferreira, Glaucio Monteiro / Barbosa, Thais Kristini Almendros Afonso / da Silva Rodrigues Marçal, Elisangela / Los, Bruna / Malaquias, Vanessa Barbosa / Bortolin, Raul Hernandes / Freitas, Renata Caroline Costa / Mori, Augusto Akira / Bastos, Gisele Medeiros / Gonçalves, Rodrigo Marques / Araújo, Daniel Branco / Zatz, Henry / Bertolami, Adriana / Faludi, André Arpad / Bertolami, Marcelo Chiara / de Moraes Rego Souza, Amanda Guerra /

França, João Ítalo Dias / Thurow, Helena Strelow / Hirata, Thiago Dominguez Crespo / Nakaya, Helder Takashi Imoto / Jannes, Cinthia Elim / da Costa Pereira, Alexandre / Silbiger, Vivian Nogueira / Luchessi, André Ducati / Araújo, Jéssica Nayara Góes / Nakazone, Marcelo Arruda / Carmo, Tayanne Silva / Souza, Dorotéia Rossi Silva / Moriel, Patricia / Wang, Jaqueline Yu Ting / Naslavsky, Michel Satya / Gorjão, Renata / Pithon-Curi, Tania Cristina / Curi, Rui / Fajardo, Cristina Moreno / Wang, Hui-Tzu Lin / Garófalo, Adriana Regina / Cerda, Alvaro / Sampaio, Marcelo Ferraz / Hirata, Rosario Dominguez Crespo / Hirata, Mario Hiroyuki

Gene

2023 Volume 875, Page(s) 147501

Abstract: ... low-density lipoprotein cholesterol (LDL-c) levels and increased risk of premature atherosclerotic cardiovascular disease. Mutations ... ETGS) strategy. FH patients (n = 210) were enrolled at five clinical sites and peripheral blood samples ...

Abstract	Familial hypercholesterolemia (FH) is a monogenic disease characterized by high plasma low-density lipoprotein cholesterol (LDL-c) levels and increased risk of premature atherosclerotic cardiovascular disease. Mutations in FH-related genes account for 40% of FH cases worldwide. In this study, we aimed to assess the pathogenic variants in FH-related genes in the Brazilian FH cohort FHBGEP using exon-targeted gene sequencing (ETGS) strategy. FH patients (n = 210) were enrolled at five clinical sites and peripheral blood samples were obtained for laboratory testing and genomic DNA extraction. ETGS was performed using MiSeq platform (Illumina). To identify deleterious variants in LDLR, APOB, PCSK9, and LDLRAP1, the long-reads were subjected to Burrows-Wheeler Aligner (BWA) for alignment and mapping, followed by variant calling using Genome Analysis Toolkit (GATK) and ANNOVAR for variant annotation. The variants were further filtered using in-house custom scripts and classified according to the American College Medical Genetics and Genomics (ACMG) guidelines. A total of 174 variants were identified including 85 missense, 3 stop-gain, 9 splice-site, 6 InDel, and 71 in regulatory regions (3'UTR and 5'UTR). Fifty-two patients (24.7%) had 30 known pathogenic or likely pathogenic variants in FH-related genes according to the American College Medical and Genetics and Genomics guidelines. Fifty-three known variants were classified as benign, or likely benign and 87 known variants have shown uncertain significance. Four novel variants were discovered and classified as such due to their absence in existing databases. In conclusion, ETGS and in silico prediction studies are useful tools for screening deleterious variants and identification of novel variants in FH-related genes, they also contribute to the molecular diagnosis in the FHBGEP cohort.
MeSH term(s)	Humans ; Proprotein Convertase 9/genetics ; Brazil ; Hyperlipoproteinemia Type II/genetics ; Mutation ; Exons ; Receptors, LDL/genetics ; Phenotype
Chemical Substances	PCSK9 protein, human (EC 3.4.21.-) ; Proprotein Convertase 9 (EC 3.4.21.-) ; Receptors, LDL
Language	English
Publishing date	2023-05-20
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2023.147501
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