Trabajos de Pesquisa Neonatal

(Click sobre el título para desplegar)

Trabajos Orales de Pesquisa Neonatal

Orden	Título	Autores	País	Tema	ACCEDER	DESTACADO
Sesión I - Comunicaciones Orales. Jueves 05 de Mayo. Salón Avalon A. 16:00 - 17:30 hs.
O-015	MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCADD) IN COSTA RICA: MOLECULAR CHARACTERIZATION OF 38 PATIENTS IDENTIFIED THROUGH THE NATIONAL NEWBORN SCREENING PROGRAM.	Alvarado D Gutiérrez JD Solano M Reuben A Camacho N Jiménez M Saborío M	Costa Rica	Fatty Acids Oxidation Defects
O-016	GENETIC DIAGNOSIS AND GENOTYPE-PHENOTYPE ASSOCIATION IN 126 BRAZILIAN INDIVIDUALS WITH REDUCED BIOTINIDASE ACTIVITY	Randon DN Borsatto T Ludwig FS De Souza CFM Ribeiro EM Carvalho de Andrade MDF Bittar CM Mello de Oliveira B Félix TM Schwartz IVD	Brasil	Biotinidase Deficiency
O-017	CFTR MUTATIONS IN DOMINICAN REPUBLIC POPULATION	Cordero LA Casado S Garcia M Almanzar F Lynch J Cruz RJ Espaillat C Tabar A	República Dominicana	Cystic Fibrosis
O-018	POPULATION VALUES OF NEONATAL TSH AS AN ESTIMATE INDICATOR OF IODINE SUFFICIENCY/DEFICIENCY STATUS IN BUENOS AIRES PROVINCE - ARGENTINA	Borrajo GJC	Argentina	Congenital Hypothyroidism
O-019	NEWBORN SCREENING CELEBRATES 20 YEARS IN SOUTH BRAZIL	Vargas PR Hess CMA Boianovsky K Ruffini P Maciel AM Coutinho VLS	Brasil	NBS Programs Description
O-020	NEWBORN SCREENING OF CONGENITAL ENDOCRINE-METABOLIC DISEASES IN A PEDIATRIC HOSPITAL, MENDOZA-ARGENTINA	Guercio AM Castro B Lobato V Pérez M Pirri M Vergara AN Carminati N Sajn L Novello D Biscardi M	Argentina	NBS Programs Description
Sesión II - Comunicaciones Orales. Viernes 06 de Mayo. Salón Avalon A. 10:45 - 11:45 hs.
O-021	NORMAL REFERENCE VALUES OF ACYLCARNITINE AND AMINO ACIDS IN THE ITALIAN POPULATION DETECTED IN DBS AND PLASMA BY TANDEM MASS SPECTROMETRY	Mancini A Catesini G Dionisi-Vici C Rizzo C	Italia	MS/MS
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 R Sadik I Blasco-Alonso J Benito C Rodríguez-Espinosa M Sánchez-Godoy L Ruiz-Sala P Pérez B	España	Expanded NBS
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 F Herbst ZM Pereira D Civallero GE Faqueti L Iop GD Soares J Chen C Hwu PWL Linden Jr HV Lourenço CM Giugliani R	Estados Unidos	New Disorders
O-024	IMPLEMENTATION AND VALIDATION OF A SECOND-TIER TEST FOR METHYLMALONIC ACID BY LC-MS/MS.	Valiente AG Fuenzalida K Guerrero P Saavedra E Faundez A Cornejo V	Chile	Methods Validation
Sesión III - Comunicaciones Orales. Viernes 6 de Mayo. Salón Avalon A. 16:30 - 17:30 hs.
O-025	ADAPTATION OF THE AUTOMATED ARCHITECT TSH CHEMILUMINESCENT MICROPARTICLE IMMUNOASSAY (CMIA) FROM ABBOTT TO BE USED IN NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM	Borrajo GJC Gómez FR	Argentina	Methods Development
O-026	DEVELOPMENT OF A WEB PLATFORM (INFORMATION SYSTEM) FOR THE COMPLETE COMPUTER MANAGEMENT AND INTEGRATION OF THE NEONATAL METABOLIC SCREENING PROGRAM IN MEXICO.	Maldonado-Solís FA May-Cob A De la Cruz-Asencio M Huchin-Pech RJ Jiménez-González MM Catzin- Ihuit LL Moreno-Graciano CM Herrera-Pérez LA	México	New Technologies
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 A Maccallini CG Junco M Smithuis F Tommasi FC Gotta G Dratler GA Ropelato G Glikman P Aranda C	Argentina	Quality Control
O-028	PERFORMANCE INDICATORS OF A COMPREHENSIVE EXPANDED NEONATAL SCREENING PROGRAM IN YUCATAN, MEXICO.	Sauri-Vivas M Hernández-Fuentes CI Ademar-Zaldívar J Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Canche-Bacab LF Vargas-Brito K Quintero-Rodríguez GI Burgos-Lizama JY	México	Quality Indicators

Pósters de Pesquisa Neonatal

Salón Avalon B

Orden	Título	Autores	País	Tema	ACCEDER	DESTACADO
P-119	PREVALENCE ESTIMATION OF PRIMARY CONGENITAL HYPOTHYROIDISM OF A NEWBORN SCREENING PROGRAM IMPLEMENTED IN MEXICO, DATA FROM 2005-2020	Cruz-Camino H Cantú-Reyna C Araiza-Lozano C Vázquez-Cantú DL Zárate-Solís IA Gómez-Gutiérrez R	México	Congenital Hypothyroidism
P-120	PREVALENCE OF CONGENITAL HYPOTHYROIDISM IN NEWBORNS IN THE STATE OF YUCATÁN, MÉXICO.	Sauri-Vivas M Hernández-Fuentes CI Ademar-Zaldívar J Centeno-Navarrete YA Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Quintero-Rodríguez GI Canche-Bacab LF Burgos-Lizama JY	México	Congenital Hypothyroidism
P-121	PREVALENCE OF HYPERTHYROTROPINEMIA IN NEWBORNS IN THE STATE OF YUCATAN, MEXICO.	Sauri-Vivas M Hernández-Fuentes CI Ademar-Zaldívar J Centeno-Navarrete YA Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Quintero-Rodríguez GI Canche-Bacab LF Cardeña-Carballo ZM	México	Congenital Hypothyroidism
P-122	CENTRALIZED NEONATAL SCREENING PROGRAM FOR CONGENITAL HYPOTHYROIDISM OF THE BOGOTÁ DEPARTMENT OF HEALTH: PERFORMANCE AND CASES CHARACTERIZATION	Del Río-Ospina L Prieto JC Sánchez AP	Colombia	Congenital Hypothyroidism
P-123	INCIDENCE AND COVERAGE OF SCREENING FOR CONGENITAL HYPOTHYROIDISM IN THE PERIOD OCTOBER 2003 TO DECEMBER 2021 IN THE “INSTITUTO NACIONAL MATERNO PERINATAL”, LIMA –PERU	Zumaeta RR Luján CR Salcedo F Santiago GG Rodríguez K	Perú	Congenital Hypothyroidism
P-124	EVALUATION OF IODINE NUTRITIONAL STATUS IN PREGNANT WOMEN AND THEIR NEWBORNS WITHIN NEONATAL SCREENING PROGRAM FOR CONGENITAL HYPOTHYROIDISM IN NICARAGUA	Fúnez A Chévez AC Castellón EA Lara M E Toro MJ Montoya E Moreno JC	Nicaragua	Congenital Hypothyroidism
P-125	EPIDEMIOLOGICAL PROFILE, CLINICAL AND BIOCHEMICAL ASPECTS IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA AT THE DR. AGUSTÍN O´HORÁN GENERAL HOSPITAL	Contreras-Pantoja BA Centeno-Navarrete YA Contreras-Capetillo SN Manrique-Canche DA Canche-Bacab LF	México	Congenital Adrenal Hyperplasia
P-126	CONGENITAL ADRENAL HYPERPLASIA, BEFORE AND AFTER NEONATAL SCREENING. 13 YEARS OF EXPERIENCE IN SANTA CRUZ - BOLIVIA	Seoane B Suárez S	Bolivia	Congenital Adrenal Hyperplasia
P-127	NEWBORN SCREENING PROGRAM FOR CYSTIC FIBROSIS IN CUBA USING THE ULTRAMICROANALYTICAL SYSTEM: TWO YEAR´S EXPERIENCE	Castells-Martínez EM Sánchez-Gutiérrez A Frómeta-Suárez A Moksde Y Silva E Rodríguez F Collazo-Mesa T Santos E Ozunas N Arteaga AL	Cuba	Cystic Fibrosis
P-128	10 YEARS OF NEWBORN SCREENING FOR CYSTIC FIBROSIS IN URUGUAY	Machado M Corbo L Méndez MS Soria A Rangoni P Queijo C	Uruguay	Cystic Fibrosis
P-129	EXPERIENCE OF A MULTIDISCIPLINARY MANAGEMENT UNIT IN PATIENTS WITH CYSTIC FIBROSIS IN THE DOMINICAN REPUBLIC.	Cordero LA Casado S Garcia M Almanzar F Lynch J Cruz RJ Espaillat C Tabar A	República Dominicana	Cystic Fibrosis
P-130	PARENTAL NEEDS FOR LEARNING ABOUT THE MANAGEMENT OF CYSTIC FIBROSIS. BASELINE FOR THE DEVELOPMENT OF A SUPPORT PROGRAM.	Lynch J Casado S Garcia M Almanzar F Cruz RJ Espaillat C Tabar A Cordero LA	República Dominicana	Cystic Fibrosis
P-131	A CYSTIC FIBROSIS CASE WITH 3 NON-CLASSIC MUTATIONS AND PSEUDO BARTTER SYNDROME: IMPORTANCE OF AN ADEQUATE DIAGNOSIS STRATEGY	Canche-Bacab LF Maldonado-Solís FA Sauri M Hernández-Fuentes CI Ademar-Zaldívar J Montalvo MZ Quiñones-Pacheco YB Contreras-Capetillo SN Canche EA	México	Cystic Fibrosis
P-132	CYSTIC FIBROSIS MOLECULAR DIAGNOSIS IN CUBA: 30 YEARS OF EXPERIENCE	Collazo-Mesa T Santos EN López I Gómez M Hernández Y Rodríguez F	Cuba	Cystic Fibrosis
P-133	MOLECULAR AND BIOINFORMATIC CHARACTERIZATION OF GENOMIC VARIANTS OF THE GALT GENE IN PATIENTS IN SOUTHWESTERN COLOMBIA	Viafara-Belalcazar JD Moreno-Giraldo LJ Arturo-Terranova D Satizabal-Soto JM	Colombia	Galactosemia
P-134	IMPORTANCE OF EARLY IDENTIFICATION OF CLASSICAL GALACTOSEMIA: REPORT OF THE FIRST CASE BY CLINICAL WHOLE GENOME SEQUENCING IN PERU	Bazalar-Montoya JY Rodríguez RS Bonilla-Suárez ACL Chávez-Pasco VG Celis-García LE Franco KC Chandrasekhar A Kesari K Taft RJ Manassero-Morales GC	Perú	Galactosemia
P-135	QUANTITATIVE ASSAY FOR DETERMINATING BIOTINIDASE DEFICIENCY IN DRIED BLOOD SPOTS ON FILTER PAPER	Espinosa M Aldir B Frómeta-Suárez A Castells-Martínez EM Martín O Del Río-Fabré L Pérez PL Almira C Nuñez Z Quintero A	Cuba	Biotinidase Deficiency
P-136	COMPARISON BETWEEN TWO ANALYTICAL METHODS OF MEASUREMENT FOR THE NEWBORN SCREENING OF MAPLE SYRUP URINE DISEASE	Guercio AM Castro B Lobato V Pérez M Pirri M Vergara AN Biscardi M	Argentina	MSUD
P-137	MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCADD): NEWBORN SCREENING RESULTS IN URUGUAY	Méndez MS González F Zabala C Machado M Segovia B González V Astapenco V Lemes A Queijo C	Uruguay	Fatty Acids Oxidation Defects
P-138	PRELIMINARY INCIDENCE OF STRUCTURAL HEMOGLOBINOPATHIES IN GUATEMALA	Albanés EJ Jacinto AC Chiroy AS Gaitán IC Tzorín PA	Guatemala	Hemoglobinopathies
P-139	KNOWLEDGE AND ATTITUDES ABOUT SICKLE CELL DISEASE IN CAREGIVERS WITH AFFECTED CHILDREN IN THE HEMATOLOGY OUTPATIENT CLINIC OF A TERTIARY CARE HOSPITAL IN A DEVELOPING COUNTRY.	Vega JC Nieves RM Gómez V	República Dominicana	Hemoglobinopathies
P-140	HYDROXIUREA EFFECTIVENESS AND ADHERENCE IN CHILDREN AND ADOLESCENTS WITH SICKLE CELL ANEMIA	Vega JC Nieves RM	República Dominicana	Hemoglobinopathies
P-141	ACTIONS FOR THE PREVENTION OF SICKLE-CELL DISEASE IN ADOLESCENTS AGED 10-18 IN THE DOMINICAN REPUBLIC, 2009-2019	Cornielle-Dipré AR Hernández AA Mendoza AC Ramírez JA Jáquez FA Alberto MR Santana M Severino C Jáquez M	República Dominicana	Hemoglobinopathies
P-142	CASE REPORT: HEMOLYTIC ANEMIA IN GLUCOSE 6 PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY	Herrera Rodríguez IM Chung Chong M Chávez Peña TDC	Panamá	G6PD Deficiency
P-143	APPROACH TO DIAGNOSIS IN POSITIVE NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY IN PUERTO RICO: UNDERSTANDING PHENOTYPE AND GENOTYPE CORRELATIONS DURING FIVE-YEAR	Albino E Rivera-Sanchez S Ramos C	Puerto Rico	SCID
P-144	QUANTIFICATION OF THE BIOMARKERS LYSOSPHINGOMYELIN AND LYSOSPHINGOMYELIN-509 BY UPLC-MS/MS FOR THE SCREENING OF ACID SPHINGOMYELINASE DEFICIENCY (ASMD)	Iop GD Faqueti L Kubaski F Pereira D Trapp FB Tirelli KM Burin MG Civallero GE Soares J Giugliani R	Brasil	Lysosomal Storage Disorders
P-145	NEWBORN SCREENING FOR METACHROMATIC LEUKODYSTROPHY IN NORTHERN GERMANY	Oliva P Mechtler T Schwarz M Streubel B Chanson C Essing M Janzen N Kasper D	Austria	New Disorders
P-146	ANALYTICAL VALIDATION AND POPULATION EVALUATION OF THE AUTOMATED ARCHITECT TSH CHEMILUMINESCENT MICROPARTICLE IMMUNOASSAY (CMIA) FROM ABBOTT ADAPTED TO BE USED IN NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM	Borrajo GJC	Argentina	Methods Validation
P-147	PERFORMANCE EVALUATION OF A MULTIPLEX KIT FOR THE SIMULTANEOUS DETECTION OF IGM ANTIBODIES AGAINST TOXOPLASMA, RUBELLA AND HUMAN CYTOMEGALOVIRUS	Almeida RMS Ogawa GM Monteiro AM Sampaio CA	Brasil	New Technologies
P-148	EXPANDED NEONATAL SCREENING PROGRAM IN THE MEXICAN ARMY HEALTH SERVICES. AN EXPERIENCE OF 8 YEARS.	García-Martínez E Terán-Montiel L Rodríguez-Bazaldua JA Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Quintero-Rodríguez GI Arias-Vidal CE Hernández-Pérez H Rosique-Hipólito NT	México	Expanded NBS
P-149	FIRST PRELIMINARY STUDY ON EXPANDED NEONATAL SCREENING OF INBORN ERRORS OF METABOLISM USING TANDEM MASS SPECTROMETRY (MS/MS) IN COLOMBIA	Rosero B Perafan KA Rincon J Cocho JA Colon C Lemes MC Cifuentes Y Herrera S Arevalo M	Colombia	Expanded NBS
P-150	NEONATAL SCREENING OF INBORN ERRORS OF METABOLISM THROUGH TANDEM MASS SPECTROMETRY IN YUCATAN, MEXICO: A 14 YEARS EXPERIENCE.	Sauri-Vivas M Hernández-Fuentes CI Ademar-Zaldívar J Contreras-Capetillo SN Quiñones-Pacheco YB Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Canche-Bacab LF Arias-Vidal CE	México	Expanded NBS
P-151	EXPANDED NEWBORN SCREENING IN LATIN AMERICA AND THE RESULTING SOCIAL JUSTICE AND ETHICAL CONSIDERATIONS	Huff HV Cabello JF Novoa F Colombo M	Chile	Expanded NBS
P-152	DETECTION OF NEWBORNS IN THE NEONATAL SCREENING PROGRAM OF THE HEALTH SERVICES OF THE MEXICAN NAVY: AN EXPERIENCE OF 9 YEARS.	De-la-Torre-García O Mar-Aldana R Santiago-Pérez AL Salgado-Sangri RE Fernández-Luna CP Herrera-Pérez LA Moreno-Graciano CM Quintero-Rodríguez GI Burgos-Lizama JY Cardeña-Carballo ZM	México	NBS Programs Description
P-153	PILOT PLAN FOR IMPROVEMENT OF NEWBORN SCREENING SAMPLES TRANSPORTATION IN COSTA RICA	Muñoz I Obando SO Jiménez M Saborío M	Costa Rica	NBS Programs Description
P-154	ASSISTANCE AT THE REFERENCE SERVICE IN NEONATAL SCREENING OF AMAZONAS BETWEEN 2020 AND 2021 DURING COVID-19 PANDEMIC	Prazeres VMG Silva CCC Gonçalves CM Rodrigues FALL Silva LCP Santos SMS Cruz DAS Dantas ICA	Brasil	NBS Programs and Covid
P-155	VIRTUAL TRAINING AND FOLLOW-UP SURVEILLANCE TO NEONATAL SCREENING COLLECTION CENTERS DURING THE COVID 19 PANDEMIC YEARS 2020-2021.	Vargas JL Barrantes K Obando SO Jiménez M Saborío M	Costa Rica	NBS Programs and Covid
P-156	EXPERIENCE IN PANAMA OF NEONATAL SCREENING DURING THE PANDEMIC OF CORONAVIRUS DISEASE 2019 (COVID-19)	Herrera Rodríguez IM Chung Chong M Chávez Peña TDC	Panamá	NBS Programs and Covid
P-157	PROPOSAL OF INFORMATIVE MATERIAL FOR THE NEWBORN SCREENING PROGRAM IN GUATEMALA.	Tzorín PA Morales LA Lemus GA Albanés EJ	Guatemala	Education