Program (ENG)

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Wednesday, May 4th - Nutrition Pre-Congress Workshop

Nutrition Pre-Congress Workshop
Salón Avalon A

Morning Nutrition Moderator: Carolina De Souza (Brazil) / Verónica Cornejo (Chile)
Starts Ends Ativity Dration Title / Speaker
09:00 12:50 Pre-Congress Workshop Nutrition 03:50   
09:00 09:10 Welcome 00:10 Welcome
Carolina Fischinger Moura de Souza (Brazil)
09:10 09:35 Lecture 1 00:25 Advances in the treatment of mitochondrial fatty acid oxidation defects (FAO)
Deborah Marsden (USA)
09:35 10:00 Lecture 2 00:25 Ketogenic diets in IEM: To whom, how and how much?
Soraia Poloni (Brazil)
10:00 10:25 Lecture 3 00:25 Maintaining normal nutritional status in IEM: preventing deficiencies and malnutrition
Lizbeth López (Mexico)
10:25 10:45 Questions 00:20   
10:45 11:15 Coffee Break 00:30   
11:15 11:40 Lecture 4 00:25 Clinical presentation and management of urea cycle disorders (UCD)
Marshall Summar (USA)
11:40 12:05 Lecture 5 00:25 Diagnosis and treatment of maple syrup urine disease (MSUD)
Florencia Salazar (Chile)
12:05 12:30 Lecture 6 00:25 Adherence to dietary therapy in IEM
Ida Schwartz (Brazil)
12:30 12:50 Questions and Conclusions 00:20   
12:50 14:00 Lunch 01:10   
Nutriion - Afternoon Moderate: Carolina De Souza
Starts Ends Activity Duration Title / Speaker
14:00 17:20 CCurso Pre-Congreso Nutrición 03:20 Wokshop: MSUD y UCD
14:00 14:20 Lecture 7 00:20 Guidelines for the treatment of MSUD
Valerie Hamilton (Chile)
14:20 14:25 Clinical Case 00:05 Case report 1: Newborn with MSUD and a metabolic decompensation
Marcela Vela / Lizbeth López (Mexico)
14:25 14:45 Wokshop 00:20 Guided group discussion
Valerie Hamilton / Florencia Salazar (Chile)
14:45 15:05 Wokshop 00:20 Proposal
15:05 15:25 Wokshop 00:20 Evidence based conclusions
Florencia Salazar (Chile) / Lizbeth López (Mexico)
15:25 15:55 Coffee Break 00:30   
15:55 16:15 Wokshop 00:20 Guidelines for the treatment of UCD
Carolina Souza (Brasil)
16:15 16:20 Clinical Case 00:05 Case report 2: Acute management in primary hyperammonemia
Carolina Souza (Brazil) / Valerie Hamilton (Chile)
16:20 16:40 Wokshop 00:20 Guided group discussion
Marcela Vela / Lizbeth López (Mexico)
16:40 17:00 Wokshop 00:20 Proposal
17:00 17:20 Wokshop 00:20 Evidence based conclusions
Carolina De Souza (Brazil) / Marcela Vela (Mexico)

Congress Opening

Salón Fillmore A

Starts Ends Activity Duration Title Speaker
18:30 19:15 Opening Ceremony 00:45    
19:15 20:00 Opening Lecture 00:45 Genomic Newborn Screening: a new paradigm in the near future? Belén Pérez (Spain)
Moderadora: Ceila Pérez

Wednesday, May 4th - Newborn Screening Pre-Congress Workshop

Newborn Screening Pre-Congress Workshop
Salon Fillmore A

Pesquisa Neonatal - Mañana Coordinators: Ernesto González / Gustavo Borrajo
Starts Ends Activiy Duration Tittle / Speakers
09:30 14:30 Newborn Screening Pre-Congress Symposium 05:00   
09:30 09:45 Welcome 00:15  
09:45 10:15 Lecture 1 00:30 The Newborn Screening Pathway
Veronica Wiley (Australia)
10:15 10:45 Lecture 2 00:30 Public health view of NBS - sensitivity, specificity, PPV, importance of definitions and target population.
Enzo Ranieri (Australia)
10:45 11:15 Lecture 3 00:30 How to decide an appropriate disorders panel to screen?.
Marcela Vela (Mexico)
11:15 11:45 Lecture 4 00:30 How to get better NBS outcomes and monitor them? - from sample collection to diagnostic confirmation, treatment and follow-up
Tania Marini (Brazil)
11:45 12:00 Questions 00:15   
12:00 12:30 Coffee Break 00:30   
12:30 13:00 Lecture 5 00:30 Choosing the right test and right algorithm - considerations for developing programmes
Raquel Yahyaoui (Spain)
13:00 13:30 Lecture 6 00:30 Cutoff values definition: a critical variable for the reliability of the detection system
Gustavo Borrajo (Argentina)
13:30 14:00 Lecture 7 00:30 Preanalytical and Analytical variables than can affect the NBS results reliability
Ernesto González (Cuba)
14:00 14:15 Questions / Closing Remarks 00:15   
14:15 14:30 Closing Remarks 00:15   
14:30 17:00 Opening Lecture 02:30   

Congress Opening

Salón Fillmore A

Starts Ends Activity Duration Title Speaker
18:30 19:15 Opening Ceremony 00:45    
19:15 20:00 Opening Lecture 00:45 Genomic Newborn Screening: a new paradigm in the near future? Belén Pérez (Spain)
Moderadora: Ceila Pérez

Thursday May 5th

Starts Ends Activity Duration Tittle / Speaker 
08:00 09:45 Plenary Session I 01:45 Salón Fillmore A
Inborn errors of metabolism and neonatal screening in the era of "omics"
Aída Lemes (Uruguay) / José Abdenur (Argentina)
08:00 08:30 Plenary Lecture 1 00:30 ¿Should we extend newborn screening in the era of multi-omics?
Eva Morava (USA) 
08:30 09:00 Plenary Lecture 2 00:30 New "omics" methodologies in the laboratory of inborn errors of metabolism
Antonia Ribes (Spain) 
09:00 09:30 Plenary Lecture 3 00:30 Importance of proteomics in the study of inborn errors of metabolism
María Luz Couce (Spain) 
09:30 09:45 Questions 00:15     
09:45 10:15 Coffee Break and Posters Viewing 00:30     
Salón Fillmore A: IEM Salón Avalon A: Newborn Screening
10:15 12:00 Simultaneous Session I 01:45 New therapies for inborn errors of metabolism
Laura Larovere (Argentina)
Newborn Screening: considerations for its implementation/An update in Hemoglobinopathies and G6PD Deficiency
Graciela Queiruga (Uruguay)
10:15 10:45 Lecture 1 00:30 Perspectives in the study of mitochondrial diseases
Tamas Kozicz (USA)
Newborn Screening Programs: development and implementation
Susan Berry (USA)
10:45 11:15 Lecture 2 00:30 mRNA treatment of methylmalonic acidemia
Gerard T Berry (USA)
An update on NBS for haemoglobinopathies in Central America and the Caribbean
Beatriz Marcheco-Teruel (Cuba)
11:15 11:45 Lecture 3 00:30 Beyon Enzyme Replacement Treatment in LSD
Antonio Gonzalez-Meneses (Spain)
Newborn Screening for glucose-6 phosphate dehydrogenase deficiency
Juliana Thomas (Brazil)
11:45 12:00 Questions 00:15      
12:00 13:30 Lunch 01:30  Industry Lunch (12 to 13 hs)
Starts Ends Activity Duration Tittle / Speaker  Tittle / Speaker
Salón Fillmore A: IEM Salón Avalon A: Newborn Screening
13:30 15:00 Simultaneous Session II 01:30  Advances in the study of IEMs
José Sotillo (Panamá)
Recent Developments in NBS by MS/MS
Isabel Ibarra (México)
13:30 13:55 Lecture 4 00:25 What is new in congenital disorders of glycosylation?
Eva Morava (USA)
Candidate diseases to be removed from the MS/MS Newborn Screening panel
Veronica Wiley (Australia)
13:55 14:20 Lecture 5 00:25 Mitochondrial disorders: an update
José Abdenur (USA)
Strategies to improve the specificity of NBS results - CLIR: a user's perspective
Patricia Hall (USA)
14:20 14:45 Lecture 6 00:25 Advances in the treatment and follow-up of patients with organic acidurias
María Luz Couce (Spain)
An update on Newborn Screening for X-linked adrenoleukodystrophy (X-ALD)
Dietrich Matern (USA)
14:45 15:00 Questions 00:15      
15:00 15:30 Posters Viewing 00:30      
Salón Fillmore A: IEM Salón Avalon A: Newborn Screening
15:30 16:00 Simultaneous Session III 00:30 Phenylketonuria
María Jesús Leal-Witt (Chile)
Molecular Sequencing in Newborn Screening Programs
Ernesto González (Cuba)
15:30 15:55 Lecture 7  00:25 PKU: Diagnosis and treatment in the 21st century
Carlos Prada (Colombia)
Integrating molecular sequencing into Newborn Screening: Examining needs across the screening system
Amy Gaviglio (USA)
15:55 16:00 Questions 00:05
16:00 17:30 Oral Communications I 01:30 Moderators: Manuel Saborio (Costa Rica) / Leticia Belmont (México)
Tittle / Speaker 
Moderators: Tania Marini (Brasil) / María Machado (Uruguay)
Tittle / Speaker 
16:00 16:15 Oral Communication 1 00:15 O-001 Investigation of mucopolysaccharidoses by measurement of disease-specific oligosaccharides in cerebrospinal fluid using tandem mass spectrometry
Faqueti Larissa Gabriela (Brazil)
O-015 Medium-chain ACYL-COA dehydrogenase deficiency (MCADD) in Costa Rica: molecular characterization of 38 patients identified through the national newborn screening program.
Jiménez Mildred (Costa Rica)
16:15 16:30 Oral Communication 2 00:15 O-002 Progression of cardiovascular manifestations in patients with mucopolysaccharidoses
Poswar Fabiano (Brazil)
O-016 Genetic diagnosis and genotype-phenotype association in 126 Brazilian individuals with reduced biotinidase activity
Randon Dévora Natalia (Brazil)
16:30 16:45 Oral Communication 3 00:15 O-003 Brain gene editing after nasal administration of the CRISPR/CAS9 system in MPS II mice
Baldo Guilherme (Brazil)
O-017 CFTR mutations in Dominican Republic population
Cordero Leandra (República Dominicana)
16:45 17:00 Oral Communication 4 00:15 O-004 Parkinson's disease in adult patients with gaucher disease type 1: frequency of pre-motor symptoms and lysosomal enzymes profile in cerebrospinal fluid and plasma
Wilke Matheus Vernet Machado Bressan (Brazil)
O-018 Population values of neonatal TSH as an estimate indicator of iodine sufficiency/deficiency status in Buenos Aires Province - Argentina
Borrajo Gustavo J C (Argentina)
17:00 17:15 Oral Communication 5 00:15 O-005 Magnetite nanoparticles as vehicle to transport recombinant hexosaminidase A and B through an in vitro model of blood-brain barrier
Espejo Angela Johana (Colombia)
O-019 Newborn screening celebrates 20 years in south Brazil
Paula Regla Vargas (Brazil)
17:15 17:30 Oral Communication 6 00:15 O-006 CRISPR-mediated genome editing allows the phenotype recovery of three lysosomal storage diseases
Almeciga Carlos Javier (Colombia)
O-020 Newborn screening of congenital endocrine-metabolic diseases in a pediatric hospital, Mendoza - Argentina
Guercio Ana María (Argentina)
17:30 17:45 Break 00:15      
17:45 19:00 SLEIMPN Bussines Meeting 01:15   

Friday 6th May

Starts Ends Activity Duration Tittle / Speaker
07:00 08:00 Industry Activity 01:00 Industry Symposium (7:00 to 8:00 hs)
08:00 09:45 Plenary Session II 01:45 Salón Fillmore A
Long term implications of Neonatal Screening
Roberto Giugliani (Brasil) / Graciela Queiruga (Uruguay)
08:00 08:30 Plenary Lecture 4 00:30 Ethical, social and legal implications in pilot Newborn Screening Programs
Susan Berry (USA) 
08:30 09:00 Plenary Lecture 5 00:30 The art of reporting a positive result in the Newborn Screening Programs
Marcela Vela (Mexico) 
09:00 09:30 Plenary Lecture 6 00:30 Clinical approach and admission to the follow-up program in a newly diagnosed case with an IEM
Manuel Saborio (Costa Rica) 
09:30 09:45 Questions 00:15      
09:45 10:15 Coffee Break and Posters Viewing 00:30      
Salón Fillmore A: IEM Salón Avalon A: Newborn Screening
10:15 10:45 Simultaneous Session IV - EIM 00:30 IEM: a therapeutic approach
Carolina Souza (Brazil)
Newborn Screening in high risk populations
Paula Regla Vargas (Brazil)
10:15 10:40 Lecture 8 - EIM 00:25 Small molecules as therapeutic agents for inborn errors of metabolism
Antonia Ribes (Spain)
Newborn Screening considerations for Preterm, Sick and Low Birth Weight Infants
Amy Gaviglio (USA)
10:40 10:45 Questions 00:05      
10:45 11:45 Comunicaciones Orales II - EIM 01:00 Coordinators: Soraia Poloni (Brasil) / José Sotillo (Panamá)
Tittle / Speaker
Coordinators: Claudia Moreno Graciano (México) / Karen Fuenzalida (Chile)
Tittle / Speaker
10:45 11:00 Oral Communication 7 - EIM 00:15 O-007 Hypoxanthine-guanine phosphoribosyltransferase deficiency: high clinical variability in argentinean patients with HPRT1 C.584A>C mutation. Cascade genetic screening for identification of new cases and carriers
Laróvere Laura Elena (Argentina)
O-021 Normal reference values of acylcarnitine and amino acids in the Italian population detected in DBS and plasma by tandem mass spectrometry
Rizzo Cristiano (Italia)
11:00 11:15 Oral Communication 8 - EIM 00:15 O-008 Epidemiology of urea cycle disorders: cohort of 134 Argentinian patients from the last 20 years.
Kleppe Soledad (Argentina)
O-022 Is maternal vitamin B12 deficiency a suitable condition to be included in newborn screening programs? results of the experience in southern Spain
Yahyaoui Raquel (Spain)
11:15 11:30 Oral Communication 9 - EIM 00:15 O-009 The use of sweet manioc starch compared to conventional cornstarch in the treatment of glycogen storage disease type IA
Mello De Oliveira Bibiana (Brazil)
O-023 Simple and fast UPLC-MS/MS method for quantifying 3-o-methyldopa in DBS: an opportunity for newborn and high-risk screening of l-amino-acid decarboxylase deficiency
Kubaski Francyne (Estados Unidos)
11:30 11:45 Oral Communication 10 - EIM 00:15 O-010 Plasma lipidomic profiling highlights severe perturbation of lipid metabolism in Smith Lemli Opitz Syndrome
Rizzo Cristiano (Italia)
O-024 Implementation and validation of a second-tier test for methylmalonic acid by LC-MS/MS.
Valiente Alf Gunterer (Chile)
11:45 14:00 Coffee Break and Posters Viewing 02:15  Industry Symposium (12 to 13 hs.)
Starts Ends Activity Duration Tittle / Speaker Tittle / Speaker
Salón Fillmore A: IEM Salón Avalon A: Newborn Screening
14:00 15:30 Simultaneous Session V 01:30  Vitamins and IEM
Marcela Pereyra (Argentina)
An update in diseases of the basic panel of Newborn Screening
Gustavo Dratler (Argentina)
14:00 14:25 Lecture 9 00:25 Clinical trial of vitamin B5 in pantothenate kinase-2 deficiency
Pedro Roa (República Dominicana)
The influence of algorithms and analytes on the detection of congenital hypothyroidism
Patricia Hall (USA)
14:25 14:50 Lecture 10 00:25 Role of vitamin B12 in some IEMs
Gerard T. Berry (USA) 
Biochemical and molecular diagnosis of congenital adrenal hyperplasia
Tania Bachega (Brazil)
14:50 15:15 Lecture 11 00:25 Importance of vitamin D in the long-term follow-up of IEMs
Carlos Prada (Colombia)
Laboratory performance for screening and confirmatory testing in cystic fibrosis
Veronica Wiley (Australia)
15:15 15:30 Questions 00:15      
15:30 16:00 Coffee Break and Posters Viewing 00:30      
Salón Fillmore A: IEM Salón Avalon A: Newborn Screening
16:00 16:30 Simultaneous Session VI 00:30 Microbiota and IEM
Alejandra Consuelo (México)
Quality in Newborn Screening
Ana María Guercio (Argentina)
16:00 16:25 Lecture 12 00:25 Is the microbiota modified in metabolic diseases?
Ida Schwartz (Brazil)
Valuation of Laboratory quality in Newborn Screening
Gustavo Borrajo (Argentina)
16:25 16:30 Questions 00:05      
16:30 17:30 Comunicaciones Orales III 01:15 Coordinators: Valerie Hamilton (Chile) / José María Satizábal (Colombia)
Tittle / Speaker
Coordinators: Ernesto González (Cuba) / Mildred Jiménez (Costa Rica)
Tittle / Speaker 
16:30 16:45 Oral Communication 11 00:15 O-011 Gene therapy using CRISPR-NCAS9 system in phenylketonuria
Almeciga Carlos Javier (Colombia)
O-025 Adaptation of the automated architect TSH chemiluminescent microparticle immunoassay (CMIA) from Abbott to be used in newborn screening for congenital hypothyroidism
Borrajo Gustavo J C (Argentina)
16:45 17:00 Oral Communication 12 00:15 O-012 Pilot study to describe the diet and gut microbiota in schools with phenylketonuria, hyperphenylalaninemia and controls from Chile
Salazar María Florencia (Chile)
O-026 Development of a web platform (information system) for the complete computer management and integration of the neonatal metabolic screening program in Mexico.
Herrera Luz Del Alba (Mexico)
17:00 17:15 Oral Communication 13 00:15 O-013 Increase in BMI during covid-19 pandemic: an observational study based on two Brazilian reference centers
Da Gama Lisiane (Brazil)
O-027 Analytical performance evaluation for neonatal TSH in the Buenos Aires city neonatal screening program using the CDC-QC material as internal quality control and sigma metric.
Barrera Amalia Teresa (Argentina)
17:15 17:30 Oral Communication 14 00:15 O-014 HOMA2 and metabolites characterization in 26 Chilean PKU adults with and without noncompliance treatment.
Leal Maria Jesus (Chile)
O-028 Performance indicators of a comprehensive expanded neonatal screening program in Yucatan, Mexico.
Herrera Luz Del Alba (Mexico)
17:30 20:30 Congress Dinner 03:00      

Saturday 7th May

Starts Ends Activity Duration TitleSpeaker
08:00 09:45 Plenary Session III 01:45 Salón Fillmore A
An Update in Lysosomal Disorders

Coordinators: Francisco Cabello. (Chile) / Hernan Amartino (Argentina)
09:00 09:30 Plenary Lecture 7 00:30 Analytical alternatives for the NBS for lysosomal disorders: advantages and disadvantages
Dietrich Matern (USA)
09:30 10:00 Plenary Lecture 8 00:30 Critical approach to treatment protocols in mucopolysaccharidosis
Antonio González (Spain)
10:00 10:30 Plenary Lecture 9 00:30 Gene therapy in neuronopathic lysosomal diseases
Roberto Giugliani (Brazil)
10:30 10:45 Questions 00:15   
10:45 11:15 Coffee Break and Posters Viewing 00:30   
11:15 12:00 Special Plenary Session 00:45 Follow up for IEM in Latin America
Ceila Pérez de Ferrán (Dominican Republic)
11:15 12:00 Chamoles's Lecture 00:45 Chile as an integral model for the follow-up of EIM in Latin America
Verónica Cornejo (Chile)
12:00 12:30 Closure Session 00:30   
12:00 12:15 Awards Ceremony 00:15  Verónica Cornejo / Gustavo Borrajo
12:15 12:30 Closure Ceremony 00:15 Ceila Pérez de Ferrán


    Avales Científicos

    • Gobierno de la República Dominicana - Salud Pública
    • Colegio Médico Dominicano
    • UNICEF
    • Universidad Autónoma de Santo Domingo
    • Universidad Iberoamericana • UNIBE • República Dominicana
    • Instituto Tecnológico Dominicano
    • Pontificia Universidad Católica Madre y Maestra
    • Sociedad Dominicana de Pediatría
    • Sociedad Dominicana de Medicina Perinatal
    • Sociedad Dominicana de Neurología y Neurocirugía
    • Sociedad Dominicana de Endocrinología Pediátrica
    • Sociedad Dominicana de Nutrición Clínica y Metabolismo
    • Sociedad Dominicana de Neumonología y Cirugía del Tórax
    • Sociedad Dominicana de Pediatras Neumonólogos
    • Sociedad Dominicana de Gastroenterología