Zobrazeno 1 - 10
of 190
pro vyhledávání: '"Wilmar, Saldarriaga"'
Autor:
Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa
Publikováno v:
JMIR Research Protocols, Vol 13, p e56649 (2024)
BackgroundMucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. This leads
Externí odkaz:
https://doaj.org/article/48a53cb6472442b799bb7521575c7e9b
Publikováno v:
Revista Colombiana de Obstetricia y Ginecología, Vol 74, Iss 3, Pp 237-243 (2023)
Objetivos: reportar un caso de diagnóstico prenatal de riñón ectópico intratorácico (REI) con hernia diafragmática y manejo quirúrgico neonatal, y hacer una revisión de la literatura sobre diagnóstico prenatal de REI y el pronóstico perinat
Externí odkaz:
https://doaj.org/article/899b4450e76a44c3b58a1234960dbd3c
Publikováno v:
International Journal of Medical Students, Vol 11 (2023)
BACKGROUND: Abdominal wall defects are one the most common congenital anomalies, with a prevalence of 1 in every 2,000 live births, common entities are gastroschisis, omphalocele, and midline defects such as bladder exstrophy-epispadias complex. Affe
Externí odkaz:
https://doaj.org/article/b4c1c95274ef493aae1e266f1e8be886
Publikováno v:
Revista Chilena de Obstetricia y Ginecología, Vol 88, Iss 4 (2023)
La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico
Externí odkaz:
https://doaj.org/article/80f4292c4f7e4d5280192327eddeb4fc
Autor:
César Payán-Gómez, Ana María Cabal-Herrera, Jurany Andrea Caicedo-Rosales, Wilmar Saldarriaga-Gil
Publikováno v:
International Journal of Infectious Diseases, Vol 122, Iss , Pp 398-400 (2022)
Summary: Myiasis refers to infestation of living animals or humans by maggots or fly larvae. Urogenital myiasis is a rare condition that is linked to poor sanitary conditions and limited access to healthcare and with few published case reports. Here,
Externí odkaz:
https://doaj.org/article/f35f0c1712dc4a569ffae89fdcb5cd09
Publikováno v:
International Journal of Medical Students, Vol 10 (2022)
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in t
Externí odkaz:
https://doaj.org/article/3d5dd58c502f4b7a87b0a975d3db1fb4
Autor:
Lorena Diaz-Ordoñez, Estephania Candelo, Katherine Silva-Cuero, Wilmar Saldarriaga, Lenka Murgašová, Martin Magner, Harry Pachajoa
Publikováno v:
JMIR Research Protocols, Vol 11, Iss 6, p e32986 (2022)
BackgroundMild to moderate hearing loss is common in patients with mucopolysaccharidosis (MPS) IVA. The hearing loss can be conductive, sensorineural, or mixed. However, in these patients, the mixed form is frequent, attributed to the combination of
Externí odkaz:
https://doaj.org/article/d3e04925c033436db15c61bcd89c9e03
Publikováno v:
BMC Ophthalmology, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nysta
Externí odkaz:
https://doaj.org/article/5ff23769afae48f892cd3e880a9f39fb
Publikováno v:
Journal of Family and Reproductive Health, Vol 15, Iss 2 (2021)
Objective: To evidence the need for screening fragile X syndrome (FXS) in egg donors in assisted reproduction protocols. Case report: This is the report of a boy with FXS who inherited the mutated allele from an ovule donated by the mother´s sister
Externí odkaz:
https://doaj.org/article/cdee3fa967d94cc7b57883d195b9d4d0
Autor:
Andres Fandiño-Losada, Beatriz Lucumí-Villegas, Julián Ramírez-Cheyne, Carolina Isaza-de Lourido, Wilmar Saldarriaga-Gil
Publikováno v:
Revista de la Facultad de Medicina, Vol 66, Iss 1, Pp 19-24 (2018)
Introducción. El diagnóstico prenatal (DP) invasivo para alteraciones cromosómicas (AC) se realiza según las indicaciones de las pruebas no invasivas y se basa en la probabilidad de encontrar un cariotipo alterado. Objetivos. Identificar las ind
Externí odkaz:
https://doaj.org/article/d968544a8007468f86058648bf811dda