21 documents found, page 1 of 3
Dermatology clinical case
Leal, Bárbara; Ribeiro, Daniela; Matos, Catarina; Coelho, SóniaA previously healthy nine-month-old boy presented to the Emergency Department with a two-week history of rash that started in the diaper area and later extended to the trunk, limbs and face. The mother reported a family history of psoriasis. The child had multiple erythematous papules and plaques on the face, trunk, diaper area, and limbs. He was diagnosed with guttate and napkin psoriasis and started on topica...
MicroRNAs as potential biomarkers of response to modified Atkins diet in treatm...
Samões, Raquel; Cavalheiro, Ana; Santos, Cristina; Lopes, Joana; Teixeira, Catarina; Tavares, Maria Manuel; Carvalho, Cláudia; Lemos, CarolinaBackground: Accurate predictors of response to modified Atkins diet (MAD) are needed. MicroRNAs are potential biomarkers in epilepsy. This study aimed to explore the value of circulating miR-146a, miR-155, miR-22, miR-21 and miR-134 levels in predicting response to MAD. Methods: Patients who completed 3 months of MAD were selected from a prospective cohort of adults with DRE followed in a specialized MAD outpat...
Dermatology clinical case
Leal, Bárbara; Ribeiro, Daniela; Matos, Catarina; Coelho, SóniaA previously healthy nine-month-old boy presented to the Emergency Department with a two-week history of rash that started in the diaper area and later extended to the trunk, limbs and face. The mother reported a family history of psoriasis. The child had multiple erythematous papules and plaques on the face, trunk, diaper area, and limbs. He was diagnosed with guttate and napkin psoriasis and started on topica...
Five years of universal newborn hearing screening: an incidence study
Leal, Bárbara; Lopes, Ana Cristina; Peixoto, Daniela; Correia, Laura; Almiro, Maria Miguel; Vilar, João; Azevedo, Luísa; Bicho, Maria AdelaideIntroduction: Universal newborn hearing screening (UNHS) is an essential tool for early diagnosis and prognosis of hearing loss. The aims of this study were to estimate the incidence of sensorineural hearing loss (SNHL) in the Baixo Vouga region, to evaluate the importance of first-degree parental consanguinity (FDPC) as a risk factor for hearing loss in the UNHS program of Centro Hospitalar do Baixo Vouga (CHB...
Occult hepatitis C infection identified in injection drug users with direct ant...
Silva, Eliane; Marques, Sara; Leal, Bárbara; Canhão, Bernardo; Madaleno, João; Simão, Adélia; Carvalho, ArmandoBackground: Occult hepatitis C infection (OCI) is characterized by the detection of hepatitis C virus (HCV) RNA in hepatocytes and in peripheral blood mononuclear cells (PBMCs) without detection in serum. We aimed to evaluate OCI in drug and no drug users who achieved sustained virological response (SVR) after therapy with direct-acting antivirals (DAAs) and with HCV spontaneous resolution. Methods: Twenty-four...
Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Coh...
Leal, Bárbara; Lopes, Ana Cristina; Peixoto, Daniela; Correia, Laura; Almiro, Maria Miguel; Vilar, João; Azevedo, Maria Luísa; Bicho, Maria AdelaideIntroduction: Genetic causes are responsible for half of the cases of hearing loss, most of them being the result of non-syndromic genetic changes resulting from autosomal recessive inheritance. Parental consanguinity might be an indicator to consider in the diagnosis of these cases. The aim of this study was to assess its importance as a risk factor for childhood hearing loss.Material and Methods: A retrospect...
Five years of universal newborn hearing screening: An incidence study
Leal, Bárbara; Lopes, Ana Cristina; Peixoto, Daniela; Correia, Laura; Almiro, Maria Miguel; Vilar, João; Azevedo, Maria Luísa; Bicho, Maria AdelaideIntroduction: Universal newborn hearing screening (UNHS) is an essential tool for early diagnosis and prognosis of hearing loss. The aims of this study were to estimate the incidence of sensorineural hearing loss (SNHL) in the Baixo Vouga region, to evaluate the importance of first-degree parental consanguinity (FDPC) as a risk factor for hearing loss in the UNHS program of Centro Hospitalar do Baixo Vouga (CHB...
Circulating cell-free DNA methylation mirrors alterations in cerebral patterns ...
Martins-Ferreira, Ricardo; Leal, Bárbara; Chaves, João; Ciudad, Laura; Samões, Raquel; Martins da Silva, António; Pinho Costa, Paulo; Ballestar, EstebanBackground: DNA methylation profiling of circulating cell-free DNA (cfDNA) has rapidly become a promising strategy for biomarker identification and development. The cell-type-specific nature of DNA methylation patterns and the direct relationship between cfDNA and apoptosis can potentially be used non-invasively to predict local alterations. In addition, direct detection of altered DNA methylation patterns perf...
Epilepsy progression is associated with cumulative DNA methylation changes in i...
Martins-Ferreira, Ricardo; Leal, Bárbara; Chaves, João; Li, Tianlu; Ciudad, Laura; Rangel, Rui; Santos, Agostinho; Martins da Silva, AntónioMesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most common focal epilepsy in adults. It is characterized by alarming rates of pharmacoresistance. Epileptogenesis is associated with the occurrence of epigenetic alterations, and the few epigenetic studies carried out in MTLE-HS have mainly focused on the hippocampus. In this study, we obtained the DNA methylation profiles from both the ...
Female preponderance in genetic generalized epilepsies
Videira, Gonçalo; Gabriel, Denis; Freitas, Joel; Samões, Raquel; Chorão, Rui; Lopes, João; Ramalheira, João; Ramalheira, João E.P.; Lemos, CarolinaIntroduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS). Methods: We performed a prospective observational study incl...