Search

In Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibrosis (CF) or CFTR related disorders variants, were detected. Ninety-two children (18.0%; 95%CI: 14.7–21.6) were found to be carriers of one sequence variant and 8 (1.6%; 95%CI: 0.7–3.1) had two sequence variants. Taking into consideration only variants that may cause CF when combined with a pathogenic CF variant, the CF pathogenic variant carrier frequency was 3.3% (95%CI: 1.9–5.3). One (0.2%; 95%CI: 0.01–0.7) child presented two CF pathogenic variants. Conclusions: The majority of CFTR variants detected have been associated with a less severe CF phenotype. A wide spectrum of CFTR variants was identified, confirming the highest CFTR allelic heterogeneity previously reported in Mediterranean country. Additionally, better knowledge about the CFTR sequence variation spectrum may contribute to more efficient genetic testing in the Portuguese population. Keywords: Cystic Fibrosis, Cystic Fibrose Transmembrane Conductance Regulator, Genome structural variants

Primary bilateral adrenal macronodular hyperplasia is characterized by functioning adrenal macronodules and variable cortisol secretion. Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, in armadillo repeat containing 5 (ARMC5) gene. The identification of the pathogenic variant enables the physician to identify and treat these patients earlier and more effectively. It has also been noticed that patients with germline causative variants show a different clinical spectrum, presenting specific clinical characteristics, as the association with the presence of meningiomas.

Pierpont syndrome is a rare and recently described multiple congenital anomaly syndrome, classically characterized by global developmental delay, distinctive facial dysmorphic features, and abnormal fat distribution in distal limbs. Only few cases were previously documented. We report a case of a term male neonate admitted to the neonatal intensive care unit because of feeding difficulties. Intrauterine growth restriction, microcephaly, and bilateral equinovarus foot were diagnosed in the second trimester, and prenatal array comparative genomic hybridization showed no abnormality. Physical examination revealed bilateral flexion deformities of wrists, elbows, knees and clubfoot, large hands and feet, deep palmar and plantar grooves, and calcaneo-plantar fat pads. Craniofacial dysmorphism, axial hypotonia, and hypoactivity were also observed. Due to the presence of congenital and non-progressive joint contractures, arthrogryposis multiplex congenita (AMC) was considered. A comprehensive diagnostic workup, including a Next Generation Sequencing target panel, was performed but did not establish a diagnosis. The clinical exome identified an heterozygous pathogenic variant in the TBL1XR1 gene (NM_001321194.1: c.1337A>G, p.[Tyr446Cys]), allowing Pierpont syndrome diagnosis. Our case stands out for reporting the novel AMC presentation in a Pierpont syndrome newborn. The broader and precocious genetic testing proved to be an essential clarifying diagnostic tool. Our patient supports the relation between the p.Tyr446Cys sequence variant in TBL1XR1 gene with this rare syndrome, reinforcing its association with a distinctive and recognizable phenotype, as well as expanding its clinical features to include AMC.

We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the PDE6C gene, a variant of c.2192G>A in exon 18 and c.1670G>A in exon 13. All patients presented the symptomatic triad of decreased visual acuity, severe photophobia, and colour vision disturbances. SD-OCT showed an absence of the ellipsoid zone, creating an optically empty cavity at the fovea in three patients. The patient with the compound heterozygous genotype presented a more severe subfoveal outer retina atrophy. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, with a normal rod response. We identified two new variants in the PDE6C gene that leads to ACHM.

Tá rindo de quê? Humor e ditadura '['What’s so funny? Humour in dictatorship times'], directed by Claudio Manoel, Alvaro Campos, and Alê Braga. Brazil, 2019

RESUMO Introdução: Nos últimos anos, assistimos a um aumento da violência política, religiosa e ideológica em todo o mundo. As entidades governamentais têm delineado políticas para combater este fenómeno onde requerem a intervenção dos serviços de saúde mental nomeadamente na identificação de indivíduos em risco de radicalização. Objectivos: Este artigo tem como objetivo rever a evidência da associação entre terrorismo, radicalização e doença mental de modo a esclarecer o possível papel da psiquiatria, especialmente o da sua subespecialidade forense, neste tipo de violência. Métodos: Revisão da literatura através de pesquisa na base de dados científica PubMed/MEDLINEusando os termos “psychiatry”, “terrorism” and “radicalization”. Resultados e Conclusões: O corpo científico que sustenta o conhecimento dos fenómenos psicológicos associados ao terrorismo é diminuto e associa-se a falhas e imprecisões metodológicas. Atualmente não existe evidência científica de uma associação entre patologia mental e radicalização, contudo, parece haver maior prevalência de psicopatologia nos terroristas solitários. As políticas antiterrorismo encontram-se desfasadas do nível de conhecimento científico e podem contribuir para o aumento do isolamento e discriminação, exigindo-se uma quebra da confidencialidade que inviabiliza o estabelecimento de uma relação terapêutica. O papel da psiquiatria não passa por avaliar risco de radicalização nem adotar técnicas para a promoção do processo inverso, mas identificar e tratar perturbações mentais associadas nos autores e nas vítimas do terrorismo, desconstruindo o estigma e evitando discriminação. Os psiquiatras que trabalham em contexto médico-legal encontram-se numa posição singular para o estudo do terrorismo e radicalização, mas deverão ser cuidadosos, individualizando a avaliação deste tipo específico de violência.

Technology-Facilitated Sexual Violence (TFSV) has been a permanent concern in contemporary society. This study aims to provide a global understanding of the TFSV phenomenon in Portuguese context. Using quantitative analyses, the rate and prevalence of victimization, victim characteristics, and technology use were examined. An online questionnaire was completed by 500 people (75.8% female) aged 18–70, mostly cisgender (96.2%), and heterosexual (85.8%). The main results point to a high victimization global rate (72%) as well as in the last 12 months (70.8%). There were no significant differences between the sexes except in sexual aggression/coercion, with more females suffering the more severe type of TFSV. However, the gendering of TFSV emerges with specific behaviors. Females tend to be more sexually harassed, only females report non-consensual sexual experiences with someone they met online, and males tend to report receiving offensive content about their gender/sexuality. Younger people tend to report a higher rate of victimization. The regression model with only victim characteristics is more predictive of TFSV victimization, with younger and heterosexual victims as significant predictors. This study argues that the culture of harassment is deeply rooted and finds an easy way to be disseminated in the digital world. [ABSTRACT FROM AUTHOR]

Sintomas psicóticos podem constituir a forma de apresentação de alterações estruturais, metabólicas ou tóxicas. As perturbações delirantes orgânicas são caraterizadas pela presença de ideias delirantes com evidência de disfunção cerebral. A iatrogenia pode ser uma causa desta disfunção. Apresentamos um caso de sintomas neuropsiquiátricos, incluindo perturbação delirante, secundária ao uso de produtos de ervanária. A noção de inocuidade associada a estes produtos origina que o consumo dos mesmos não seja referido espontaneamente pelo doente na recolha da história clínica, pelo que a sua utilização deve ser ativamente questionada.

Neospora caninum is a widely distributed parasite, which significantly impacts reproduction in ruminants. This study aimed to survey the seroprevalence and risk factors associated with neosporosis infection in commercial herds of sheep in the northwest of Rio Grande do Sul, Brazil. Three hundred sheep serum samples were used to investigate anti-N. caninum antibodies using indirect immunofluorescence reaction at a 1:40 dilution. The presence of anti-N. caninum antibodies was detected in 20.3% (61/300) of the samples evaluated; however, positive reactions were observed in all (13/13) flocks sampled. Sheep breeds > 1 year of age had 1.2-fold higher risk for infection with N. caninum (odds ratio 2.2 [95% confidence interval 1-5.1]; P < 0.001). These findings should raise awareness on the importance of serological screening, identification of risk factors, and maintenance of preventive measures, such as not allowing dogs to contact sheep feed and not offering the placental remains of ruminants to canids.

Imagens da imigração portuguesa no Brasil têm sido difundidas por escritores dos dois países desde o século XIX. Esta comunicação mostra que os significados atribuídos por autores portugueses desse século incluíram a imigração como fuga, escravatura, sorte, exploração, mal necessário e abandono. Mudanças e permanências nesse imaginário são estudadas a partir do mapeamento de obras de Camilo Castelo Branco, Eça de Queiroz, Gomes de Amorim e Ramalho Ortigão e da perspectiva da sociologia cultural. Eles retrataram a vida de imigrantes no Brasil e retornados na terra natal. A pesquisa realça sobretudo causas, efeitos e reações vinculadas à imigração.

Background Carbamazepine (CBZ) is effective in treating KCNQ2/3-related seizures, which may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern. Objective To assess how improved recognition of the distinctive aEEG ictal pattern associated with KCNQ2/3 variants has enabled early and effective targeted therapy with CBZ. Methods Retrospective descriptive study of five neonates with KCNQ2/3 pathogenic gene variants admitted at a level 3 neonatal intensive care unit (NICU) over an 8-year period. Results The distinctive ictal aEEG pattern was recognized in four neonates after an average of 61.5 hours (minimum 12 hours, maximum 120 hours) from the first electroclinical seizure and prompted the use of CBZ that was effective in all. The two most recently diagnosed patients could avoid polytherapy as they received CBZ as the first and second antiseizure medication, respectively. Three out of five patients with continuous normal voltage (CNV), sleep–wake cycling (SWC), and shorter postictal suppression had normal neurodevelopmental outcome. Regarding the remaining two infants, one was not trialed with CBZ and had a high seizure burden, both presented with a prolonged postictal suppression, no SWC, and had moderate-to-severe developmental delay. Genetic results became available after the neonatal period in all but one of the infants, who had a prenatal diagnosis. Conclusion Recognition of the distinctive ictal aEEG pattern in the NICU allowed early and effective targeted therapy with CBZ in four neonates, well before genetic results became available. Furthermore, a CNV background pattern with SWC and short postictal suppression were associated with normal developmental outcomes. [ABSTRACT FROM AUTHOR]