21 documents found, page 1 of 3
Prenatal Diagnosis of Cartilage-Hair Hypoplasia: A Narrative Review
Portela Carvalho, Catarina; Alves, Inês; Lemos, Carolina; Guedes-Martins, LuísCartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathogenic variants in the RMRP gene. The clinical presentation is highly variable and may include short-limbed short stature, metaphyseal abnormalities, hypotrichosis, and immune deficiency, among oth...
A rede tecnopolítica #ELENÃO na hibridização do espaço urbano
Lemos, CarolinaEste ensaio discorre sobre a atuação do Movimento #ELENÃO no espaço urbano como uma rede tecnopolítica, destacando a intersecção entre o espaço digital e físico na construção de uma resistência feminista. Teve como objetivo compreender como as redes sociotécnicas influenciam as interações políticas e sociais. Os resultados revelam que as interfaces digitais contribuem na mobilização e articulação do movimento, ...
A rede tecnopolítica #elenão na hibridização do espaço urbano
Lemos, CarolinaEste artigo discorre sobre a atuação do Movimento #ELENÃO no espaço urbano como uma rede tecnopolítica, destacando a intersecção entre o espaço digital e físico na construção de uma resistência feminista. Teve como objetivo compreender como as redes sociotécnicas influenciam as interações políticas e sociais. Os resultados revelam que as interfaces digitais contribuem na mobilização e articulação do movimento, ...
Missense variant in TTBK2 kinase domain causes loss of function and impaired pr...
Felício, Daniela; Osório, Hugo; Pereira, Conceição; Brandão, Ana Filipa; Freixo, João Parente; Carvalho, Inês; Sousa, Ana PaulaTau tubulin kinase 2 (TTBK2) is a ubiquitous serine-threonine protein kinase implicated in diverse cellular processes, including microtubule regulation, ciliogenesis, synaptic signaling, and the phosphorylation of key proteins like TDP-43. Despite its relevance, many aspects of TTBK2 function in both physiological and pathological conditions remain poorly understood. Truncating variants in TTBK2 gene cause spin...
Missense Variant in TTBK2 Kinase Domain Causes Loss of Function and Impaired Pr...
Felício, Daniela; Osório, Hugo; Pereira, Conceição; Brandão, Ana Filipa; Freixo, João Parente; Carvalho, Inês; Sousa, Ana PaulaTau tubulin kinase 2 (TTBK2) is a ubiquitous serine-threonine protein kinase implicated in diverse cellular processes, including microtubule regulation, ciliogenesis, synaptic signaling, and the phosphorylation of key proteins like TDP-43. Despite its relevance, many aspects of TTBK2 function in both physiological and pathological conditions remain poorly understood. Truncating variants in TTBK2 gene cause spin...
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...
Vertical dentofacial skeletal divergency is not linked with oral health-related...
Pereira, Dinis; Machado, Vanessa; Botelho, João; Lemos, Carolina; Mendes, José João; Delgado, Ana SintraThe aim of this study is to assess how vertical skeletal malocclusion affects oral health-related quality of life (OHRQoL) among a sample of individuals comprising adolescents, young adults, and adults seeking orthodontic treatment. From January 2019 to March 2020, participants were consecutively enrolled. The assessment of OHRQoL involved measurement using the oral health impact profile (OHIP-14). Lateral ceph...
Genotype-first approach to identify associations between CDH1 germline variants...
Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre dos Santos; Garrido, Luzia; Castedo, Sérgio; Sousa, SóniaBackground Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier individuals to diffuse gastric and lobular breast cancer. Rare CDH1 missense variants are often classified as variants of unknown significance. We conducted a genotype– phenotype analysis in families carrying rare CDH1 variants, comparing cancer s...
Gender-Affirming Hormone Therapy: Physical and Sociopsychological Effects, Impa...
Santos, Rafael Baptista; Lemos, Carolina; Saraiva, MiguelBackground Gender dysphoria treatment includes gender-affirming hormone therapy (GAHT). Studies are still lacking on how to characterize its effects and impact on transgender people's lives more effectively. Aim To study the physical and psychological effects of GAHT on transgender individuals, assess its impact on their lives, and rate their overall satisfaction. Methods Participants (n = 114; ages 18-62 years...
Physical Activity, Exercise, and Sports in Individuals with Skeletal Dysplasia:...
Jacinto, Miguel; Matos, Rui; Alves, Inês; Lemos, Carolina; Monteiro, Diogo; Morouço, Pedro; Antunes, RaulThere is a lack of knowledge about the practice of physical activity, exercise, and sports in people with skeletal dysplasia (SD). This study aimed to characterize the physical fitness of people with SD; investigate the benefits of physical activity, exercise, or sports programs for people with SD; identify the adapted physical activities that can be prescribed to individuals with SD; and identify the most comm...