Hemocromatosis hereditaria, una revisión

Introduction: Hereditary hemochromatosis Type 1 represents the most common inborn error of metabolism in the general population. All types of hemochromatosis are characterized by iron overload, in different organs, causing the specific patological manifestations.  This work is a review of all known types of hemochromatosis, the symptoms, associated genes risk alleles, new analytical methods to estimate iron concentration, molecular diagnosis, and clinical management. Methods: A non-systematic study of articles, incidence reports and patient studies, published in medical journals, in English and Spanish, from 1996 to March 2019, was achieved using Google Scholar and PubMed. Hemochromatosis, genes, types, and diagnosis were used as search indicators. Findings: Hereditary hemochromatosis diseases are characterized by iron overload, generated by a higher absorption of this element. There are several genes involved of which the HFE gene is mutated in most affected individuals. The symptoms are produced according to the location and deposit of this metal. The leading and most used treatment continues to be phlebotomy. Conclusions: A high prevalence of hemochromatosis worldwide the pathological organ-specific consequences, as well as the easy treatment, urges the need for an early diagnosis of this entity in the Costa Rican population.La hemocromatosis hereditaria tipo I representa el error innato del metabolismo más común en la población general. Todos los tipos de hemocromatosis se caracterizan por la sobrecarga de hierro, cuyo exceso se deposita en diferentes órganos y produce daños en estos. Por lo anterior, se pretende con este trabajo dar a conocer los tipos de hemocromatosis, los síntomas, los genes asociados con cada trastorno, los alelos de riesgo, así como los nuevos métodos analíticos para estimar la concentración de hierro, el diagnóstico molecular y el manejo clínico. Se realizó una revisión no sistemática de artículos indexados en revistas médicas y científicas, publicados en inglés y español a partir de 1996 hasta julio de 2023 mediante los buscadores Google académico y PubMed. Para la búsqueda fueron empleadas las palabras “hemocromatosis, genes, tipos, diagnóstico”. De los artículos en texto completo se utilizaron reportes de incidencia y estudios de series de casos de pacientes. Al respecto se halló que las hemocromatosis hereditarias son enfermedades caracterizadas por sobrecarga de hierro, producidas por una mayor absorción de este elemento. Existen varios genes implicados, de los cuales el gen HFE se encuentra mutado en la mayoría de las personas afectadas. Los signos y síntomas se producen según la localización de depósito de este metal. El principal tratamiento es la flebotomía. Se concluye que la elevada prevalencia de la hemocromatosis a nivel mundial y sus consecuencias patológicas, así como la facilidad del tratamiento aumentan la necesidad de una sospecha diagnóstica temprana de esta entidad en la población costarricense

Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey

This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After a pilot test, the final version was sent to 25 practitioners working with inborn errors of metabolism (IEM) in 14 countries. Our results include 22 centers in 13 countries. Most countries (12/13) screened newborns for PKU. Phenylalanine (Phe) targets at different ages were very heterogeneous among centers, with greater consistency at the 0–1 year age group (14/22 sought 120–240 µmol/L) and the lowest at >12 years (10 targets reported). Most countries had only unflavored powdered amino acid substitutes (10/13) and did not have low-protein foods (8/13). Only 3/13 countries had regional databases of the Phe content of foods, and only 4/22 centers had nutrient analysis software. The perceived obstacles to treatment were: low purchasing power (62%), limited/insufficient availability of low-protein foods (60%), poor adherence, and lack of technical resources to manage the diet (50% each). We observed a heterogeneous scenario in the dietary management of PKU, and most countries experienced a lack of dietary resources for both patients and health professionals.Fil: Poloni, Soraia. Hospital de Clínicas de Porto Alegre; BrasilFil: Dos Santos, Bruna Bento. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; BrasilFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Specola, Norma. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Pereyra, Marcela. Gobierno de la Provincia de Mendoza. Hospital Pediátrico Humberto Notti; ArgentinaFil: Saborío Rocafort, Manuel. Universidad de Costa Rica; Costa RicaFil: Salazar, María Florencia. Universidad de Chile; ChileFil: Leal-Witt, María Jesús. Universidad de Chile; ChileFil: Castro, Gabriela. Universidad de Chile; ChileFil: Peñaloza, Felipe. Universidad de Chile; ChileFil: Wong, Sunling Palma. Hospital Nacional de Niños; Costa RicaFil: Badilla Porras, Ramsés. Hospital Nacional de Niños; Costa RicaFil: Ortiz Paranza, Lourdes. Ministerio de Salud Pública y Bienestar Social; ParaguayFil: Sanabria, Marta Cristina. Hospital de Clínicas; ParaguayFil: Vela Amieva, Marcela. Instituto Nacional de Pediatría; MéxicoFil: Morales, Marco. No especifíca;Fil: Caro Naranjo, Amanda Rocío. Pontificia Universidad Javeriana; ColombiaFil: Mahfoud, Antonieta. Pontificia Universidad Javeriana; ColombiaFil: Colmenares, Ana Rosa. Hospital Clinica Caracas-Materno Infantil de Caricuao; VenezuelaFil: Lemes, Aida. Instituto de Seguridad Social; UruguayFil: Sotillo Lindo, José Fernando. Hospital de especialidades Pediátricas “Omar Torrijos Herrera"; PanamáFil: Perez, Ceila. Robert Reid Cabral Children’s Hospital; República DominicanaFil: Martínez Rey, Laritza. Centro Nacional de Genética Médica; CubaFil: Zayas Torriente, Georgina María. Centro de Nutrición e Higiene de los Alimentos del Instituto Nacional de Higiene, Epidemiología y Microbiología; CubaFil: Farret Refosco, Lilia. Hospital de Clínicas de Porto Alegre; BrasilFil: Doederlein Schwartz, Ida Vanessa. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; BrasilFil: Cornejo, Veronica. Universidad de Chile; Chil

First Report of Potato Spindle Tuber Viroid in Costa Rica

Datos y artículo incluido por Lisela Moreira Carmona, responsable de depósitos de publicaciones del área de Patógenos y Plagas del CIBCMDuring 1997 to 1998, symptoms of leaf roll, dwarfism, chlorosis, and occasional leaf necrosis were observed on Solanum tuberosum in several plots in Cartago, the principal potato-production region of Costa Rica. Because of the known association between potato leafroll virus (PLRV) and viroids (1) and previous reports of PLRV in Costa Rica, the presence of potato spindle tuber viroid (PSTVd) was suspected. Leaf samples from 122 symptomatic potato plants, cvs. Atzimba, Floresta, Idiafrit, and Birris, were collected from 10 plots. Total nucleic acids (TNAs) were extracted and purified (2) from collected symptomatic samples and six healthy potato controls. TNAs were spotted on nylon membranes and hybridized to a digoxigenin labeled DNA probe specific for PSTVd. Of 122 symptomatic plants, 71 were positive for PSTVd based on dot blot hybridization. TNAs from 12 positive potato samples, including at least 1 sample from each cultivar, were used to inoculate Lycopersicum esculentum cv. Super Marmande. Eleven of twelve inoculated tomato plants showed symptoms of dwarfism, leaf deformation, and grayish foliage, often with a dull surface. TNAs were extracted from inoculated tomato and hybridized to the PSTVd probe. All inoculated symptomatic plants were positive for PSTVd based on dot blot hybridization. This is the first report of PSTVd in Costa Rica.Universidad de Costa Rica/[801-94-905]/UCR/Costa RicaUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM

Williams-Beuren syndrome in diverse populations

Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses