Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
Sign Up to like & getrecommendations! Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0879-2
Abstract: The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals,… read more here.
Keywords: research; diagnosis; errors metabolism; reference center ... See more keywords
Impact of histopathological revision and molecular pathology in the diagnosis of sarcomas in a reference center in Brazil.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2022.40.16_suppl.e23533
Abstract: e23533 Background: The accurate classification of sarcomas remains a major challenge due to the diversity and rarity of this group of mesenchymal tumors. In addition to standard microscopy and immunohistochemical techniques, molecular analyses are often… read more here.
Keywords: reference center; pathology; diagnosis; histology ... See more keywords
Paracoccidioidomycosis in people living with HIV/AIDS: A historical retrospective cohort study in a national reference center for infectious diseases, Rio de Janeiro, Brazil
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Neglected Tropical Diseases"
DOI: 10.1371/journal.pntd.0010529
Abstract: Paracoccidioidomycosis (PCM) is one of the main endemic systemic mycoses in Latin America, usually occurring in rural areas. When PCM occurs simultaneously with underlying immunosuppressive conditions, it can present as an opportunistic disease. Between 2000… read more here.
Keywords: infection; living hiv; people living; hiv aids ... See more keywords
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center
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DOI: 10.3389/fgene.2022.993612
Abstract: Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin deficiency (BH4D) are not always available in low- or middle-income countries, including Mexico, limiting information regarding the phenotypic… read more here.
Keywords: reference center; spectrum underlying; hpa; genotypic spectrum ... See more keywords
Clinical and Epidemiological Characteristics of Sporotrichosis in a Reference Center of Uruguay
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Fungi"
DOI: 10.3390/jof8030322
Abstract: Background: Sporotrichosis is a fungal implantation disease of subacute/ chronic course caused by species of the dimorphic fungus Sporothrix spp. This infection usually develops after traumatic inoculation of contaminated soil, plants or organic material contaminated… read more here.
Keywords: reference center; clinical epidemiological; sporotrichosis; epidemiological characteristics ... See more keywords
Clinical features of 47 patients infected with COVID-19 admitted to a Regional Reference Center.
Sign Up to like & getrecommendations! Published in 2020 at "Revista medica de Chile"
DOI: 10.4067/s0034-98872020001101577
Abstract: BACKGROUND During the first pandemic wave, Covid-19 reached Latin America cities. AIM To report clinical features and outcomes of a group of patients with Covid-19 admitted to a Chilean regional reference Center. MATERIAL AND METHODS… read more here.
Keywords: regional reference; reference center; clinical features; covid admitted ... See more keywords
Profile of Chikungunya Patients with Ophthalmological Manifestations in a Reference Center in Brazil.
Sign Up to like & getrecommendations! Published in 2022 at "Japanese journal of infectious diseases"
DOI: 10.7883/yoken.jjid.2022.028
Abstract: To evaluate the profile of ophthalmological manifestations of patients affected by chikungunya accompanied in the ophthalmology service of a reference center in the Northeast region of Brazil. A retrospective study, whose data collection was carried… read more here.
Keywords: reference center; pathology; ophthalmological manifestations; brazil ... See more keywords