Results 11 to 20 of about 4,430 (135)

Physical Performance and its Association with Executive Function in Latin American Older Adults: Evidence from the LatAmFINGERS Multicenter Randomized Controlled Trial [PDF]

Alzheimers Dement
Abstract Background The accelerated aging process in low‐ and middle‐income countries (LMIC) has led to an increased prevalence of non‐communicable diseases, including dementia, a leading cause of disability in Latin America and the Caribbean (LAC). Executive and physical performance dysfunction accelerates functional decline in older adults.
Gutiérrez M, Marroig A, Concha N, Delgado C, Charamelo A, Burgos P, Slachevsky A, Dansilio S, Lema J, Martinez M, Márquez C, Castro N, Moreno M, Bravo J, Lara O, More J, Acosta‐Baena N, Crivelli L, Calandri I, Sevlever G, Aguillon D, Allegri R, Caramelli P, Nitrini R, Sosa‐Ortiz A, Salinas‐Contreras R, Suemoto C, Yassuda M.   +27 more
europepmc   +4 more sources

Advances in clinical genetics and its current challenges

Anales de Pediatría (English Edition), 2022
The great advances in the development of genomic technologies and their incorporation into routine clinical practice is bringing about a change in which an individual's genetic information is becoming increasingly relevant to their medical care.
Fernando Santos Simarro
doaj   +1 more source

Protocolo genético en Atención Primaria para enfermedades raras: el síndrome de Wolfram como prototipo

Atención Primaria, 2022
Resumen: Las enfermedades raras, pese a su baja frecuencia individual, afectan globalmente al 7% de la población, por lo que el profesional de Atención Primaria (AP) tendrá varios de estos pacientes bajo seguimiento.
Gema Esteban-Bueno, Lucas Ramón Díaz-Anadón, Antonio Rodríguez González, Miguel Navarro Cabrero, Aída María Berenguel Hernández   +4 more
doaj   +1 more source

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

Scientific Reports, 2017
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5–3 Mb on chromosome region 22q11.2.
Luis E. León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M. Repetto   +8 more
doaj   +1 more source

O ENSINO DE GENÉTICA NA MEDICINA: COMO OS ALUNOS PERCEBEM A GENÉTICA CLÍNICA [PDF]

Revista Brasileira de Educação Médica, 2021
Resumo Considerando a genética como uma área de rápido avanço nas áreas biomédicas e de inclusão recente como disciplina nos currículos das faculdades de medicina, procura-se verificar o grau e o tipo de conhecimento por parte dos alunos de medicina da ...
Carolina F.M Souza, Ida V. D. Schwartz, Sílvia P. Ruschel, Ana Cristina Puga, Alexandre M. Reis, Fabrício S. Costa, Ricardo P. Dias, Renato Z. Flores, Lavínia Schuler   +8 more
doaj   +1 more source

Prospective Longitudinal Cohort of Argentinean Patients with Progressive Supranuclear Palsy: A Platform for Epidemiological and Translational Research [PDF]

Alzheimers Dement
Abstract Background Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are two neurodegenerative disorders that manifest disabling postural instability, parkinsonism, cognitive impairment and falls with brain neurofibrillary tangle lesions containing 4‐repeat tau protein. The prevalence is 6/100,000 inhabitants but estimated only from
Couto B, Pinto M, Avale M, Falzone T, Gershanik O, Chade A, Mizraji G, Gonzalez‐Toledo M, Peralta M, Gomez‐Arevalo G, Mezmezian M, Marras C, Sevlever G.   +12 more
europepmc   +2 more sources

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

Orphanet Journal of Rare Diseases, 2019
Background Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms.
M. Fernanda Rozas, Felipe Benavides, Luis León, Gabriela M. Repetto   +3 more
doaj   +1 more source

Genetic variants in Colombian patients with inherited cardiac conditions

Molecular Genetics & Genomic Medicine, 2022
Background Clinical and molecular diagnosis of inherited cardiac conditions is key to find at‐risk subjects and avoid preventable deaths. This study aimed to identify genetic variants in a sample of Colombian patients diagnosed with inherited cardiac ...
Cynthia Rucinski, Luz Karime Yunis, Fernando Rosas, David Santacruz, Juan Manuel Camargo, Juan José Yunis   +5 more
doaj   +1 more source

Factores psicosociales que influyen en la relación médico paciente en la consulta de genética clínica.

Revista Española de Educación Médica, 2022
Introducción: la genética clínica ha sido reconocida como una práctica dedicada al diagnóstico y al manejo de los trastornos genéticos por parte del médico genetista.
Diana Marcela Ortiz Quiroga, Stephan Jalisi, Ximena Castro Sardi, Yoseth Ariza Araújo, Harry Pachajoa   +4 more
doaj   +1 more source

Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine

Anales de Pediatría (English Edition)
Genomic medicine has made significant progress, driven by genomic technologies and their integration into clinical practice. However, its implementation presents challenges, particularly in genetic counseling (GC) and the interpretation of genomic data ...
Diana Salinas Chaparro, Patricia Muñoz Cabello, Gema Escribano Serrano, Maite Torres López, Eduardo F. Tizzano, Antonio F. Martinez-Monseny, Fernando Santos-Simarro   +6 more
doaj   +1 more source