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Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series
Get PDFIntroduction: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy.
Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed.
Results: A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A,p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal-onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans.
Discussion: AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.info:eu-repo/semantics/publishedVersio
Radiological Learning Point: Repercussions of the Historical Treatment of Tuberculosis
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O Impacto da Pandemia COVID-19 no Internato de Formação Específica de Oftalmologia em Portugal
Get PDFIntroduction: The purpose of this study was to provide objective and real-life data concerning the impact of the COVID-19 pandemic on ophthalmology residency training in Portugal.
Material and Methods: Descriptive survey-based study applied to current Portuguese ophthalmology residents (n = 80 eligible).
Results: Seventy-five residents participated (94% response rate). All except one (99%) admitted a change in their routine clinical practice during the pandemic, and most (89%) continued to be engaged in ophthalmology department duties. Twenty-five percent were deployed to COVID-19 units, which was combined with ophthalmological activities in about half of them (47%). A significant proportion of participants stated that they were enrolled in the following ophthalmological activities: emergency/inpatient care (87%), outpatient visits (73%; general 70% vs subspecialty 29%), and surgical procedures (64%). Twenty-five percent did not assist in any outpatient visits and 36% did not participate in any surgical procedures. On a scale from 1 (no impact) to 5 (maximum impact), most participants classified their perceived negative impact of the pandemic on the training program as 3 (24%), 4 (40%), or 5 (27%). Participants highly agreed with the extension of the residency program (80%) in order to to make up for training disruption.
Discussion: Most trainees provided ophthalmological care during the pandemic. However, those clinical activities were essentially related to general and emergency care. Surgical experience was significantly curtailed. As such, strategies are needed to guarantee a high-quality learning process. Further studies are required to develop an international perspective on how ophthalmology training programs have been affected so that educational organizations can make recommendations regarding standardized adjustments to training programs.
Conclusion: The COVID-19 pandemic has significantly impacted the training of ophthalmology residents nationwide.Introdução: Este estudo teve como objetivo avaliar o impacto da pandemia COVID-19 no internato de Formação Específica de Oftalmologia em Portugal.
Material e Métodos: Estudo descritivo dos resultados obtidos de um questionário aplicado a todos os internos de Formação Específica de Oftalmologia em Portugal (n = 80).
Resultados: Setenta e cinco internos participaram no estudo (taxa de resposta de 94%). Excetuando um caso, todos (99%) admitiram alteração da sua prática clínica durante a pandemia, e a maioria (89%) manteve atividades clínicas no seu serviço de Oftalmologia. Vinte e cinco por cento foram integrados em unidades COVID-19, e metade desses inquiridos (47%) desempenharam concomitantemente atividades no âmbito da oftalmologia. Uma percentagem significativa dos inquiridos referiu estar envolvido nas seguintes atividades clínicas oftalmológicas: serviço de Urgência/consultas internas (87%), consultas externas (73%: geral 70% vs subespecialidade 29%), e cirurgias (64%). Vinte e cinco por cento não participaram em consultas externas, e 36% em procedimentos cirúrgicos. Numa escala de 1 (sem impacto) a 5 (máximo impacto), a maioria dos inquiridos classificou o impacto percecionado da pandemia no internato de Formação Específica de Oftalmologia em 3 (34%), 4 (40%) e 5 (27%). Oitenta porcento dos inquiridos enumerou a extensão do período do internato de Formação Específica como uma medida a adotar para minimizar o impacto negativo da pandemia.
Discussão: A maioria dos internos mantiveram-se a desempenhar atividades clínicas no seu serviço de Oftalmologia, principalmente no âmbito da oftalmologia geral e de urgência. O desempenho de atividade cirúrgica foi largamente afetado. São necessárias estratégias adaptativas para garantir a continuação adequada da formação dos internos. Futuros estudos noutros contextos geográficos permitirão perceber de que forma os programas de formação em oftalmologia estão a ser afetados ao nível internacional, para que as organizações educacionais possam elaborar recomendações.
Conclusão: A pandemia COVID-19 teve um impacto significativo no internato de Formação Específica de Oftalmologia em Portugalinfo:eu-repo/semantics/publishedVersio
Enterococcus faecalis-associated lung abscess in a male adolescent- a case report
Get PDFBackground: Enterococci are rarely considered pulmonary pathogens; they are usually regarded as colonizers of the airway. The authors present the case of a previously healthy male adolescent, with complaints of fatigue and chest pain, who was diagnosed with Enterococcus faecalis-associated acute primary lung abscess.
Case presentation: A previously healthy 17-year old boy was admitted to the pediatric ward due to a one-week history of fatigue, inspiratory left side chest pain, dry cough and nasal obstruction. On admission at the emergency department, he was afebrile, with no signs of respiratory distress, but with diminished breath sounds on the left side. A chest x-ray showed a round opacity on the posterior basal segment of the left lower lobe; he was discharged with oral amoxicillin 1000 mg three times a day with the diagnosis of community-acquired pneumonia. Due to the worsening of the productive cough with purulent stinking sputum he was re-evaluated after 4 days. Laboratory studies showed a leukocyte count of 15200/uL and a c-reactive protein of 172 mg/l. The chest computed tomography scan was suggestive of a consolidation of the left lower lobe base and a central abscess. An intravenous course of ceftriaxone and clindamycin was initiated, with a favourable clinical evolution. The bronchofibroscopy performed on day four after his admission revealed the presence of a tracheal bronchus and numerous purulent secretions. Culture examination of bronchoalveolar lavage fluid samples was positive (> 10^5) for Enterococcus faecalis. No complications were registered during his stay in the pediatric ward. He was discharged after a 14-day course of intravenous ceftriaxone and clindamycin, with the recommendation to complete a four-week course of oral amoxicillin/clavulanic acid. On his reevaluation 4 weeks after his discharge, he was asymptomatic.
Conclusion: This case report highlights the importance of considering Enterococcus faecalis as an etiologic agent in cases of non-resolving or complicated cases of pneumonia, such as lung abscesses, even in young patients with no comorbidities or risk factors.info:eu-repo/semantics/publishedVersio
Real-world evidence in antiretroviral therapy: drug safety data
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Tuberculose pulmonar bacilífera em idade pediátrica – Caso clínico
Get PDFChildren are more susceptible than adults to development of tuberculosis after exposure to active disease, hence screening and chemoprophylaxis are particularly important. Although Portugal is considered to have a low burden of tuberculosis, educating the population on the importance of screening and treatment is vital to decrease the number of cases. Herein is reported the case of an 11-year-old girl with previous contact with active tuberculosis who was lost to follow-up and later diagnosed with bacillary pulmonary tuberculosis.info:eu-repo/semantics/publishedVersio
Genetic Variants of the MGAT5 Gene Are Functionally Implicated in the Modulation of T Cells Glycosylation and Plasma IgG Glycome Composition in Ulcerative Colitis
Get PDFObjectives: The impact of genetic variants (single nucleotide polymorphisms [SNPs]) in the clinical heterogeneity of ulcerative colitis (UC) remains unclear. We showed that patients with UC exhibit a deficiency in MGAT5 glycogene transcription in intestinal T cells associated with a hyperimmune response. Herein, we evaluated whether MGAT5 SNPs might functionally impact on T cells glycosylation and plasma IgG glycome in patients with UC, as well as in UC clinical outcomes.
Methods: Three selected MGAT5 SNPs (rs3814022, rs4953911, and rs1257220), previously associated with severity of autoimmune disease or with plasma glycome composition in healthy individuals, were functionally evaluated in patients with UC through analysis of MGAT5 mRNA levels in colonic (n = 14) and circulating (n = 24) T cells and through profiling the plasma IgG Fc glycosylation (n = 152). MGAT5 SNPs were genotyped in 931 patients with UC from 2 European cohorts and further associated with patients' prognosis. Targeted next-generation sequencing for MGAT5 coding and regulatory regions was also performed.
Results: MGAT5 SNPs were shown to be functionally associated with low transcription levels of MGAT5 in colonic and circulating T cells from patients with UC and with agalactosylation of IgGs, often associated with a proinflammatory phenotype. The SNPs rs3814022 and rs4953911 were further associated with the need of biologics. Next-generation sequencing data further revealed a combination of MGAT5 SNPs that stratify patients with UC according to their severity.
Discussion: Our results revealed that MGAT5 SNPs have a phenotypic impact on T cells glycosylation and in plasma IgG glycome composition associated with UC pathogenesis. MGAT5 SNPs display a tendency in the association with a worse disease course in patients with UC.Financial support from Portugal: Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP) integrates the i3S research unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT). This article is a result of the project NORTE-01-0145-FEDER-000029, supported by the Norte Portugal Regional Programme (NORTE 2020) under the PORTUGAL 2020 Partnership Agreement through the European Regional Development Fund (ERDF). This work was also funded by FEDER—Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020—Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020, and by Portuguese funds through FCT—Fundação para a Ciência e a Tecnologia/Ministério da Ciência, Tecnologia e Inovação in the framework of the projects (POCI-01/0145-FEDER-016601; PTDC/DTP-PIC/0560/2014; POCI-01-0145-FEDER-028772). S.S.P. also acknowledges the European Crohn's and Colitis Organization (ECCO) for ECCO Grant; the Broad Medical Research Program at the Crohn's and Colitis Foundation of America, and the Portuguese Group of Study in IBD (GEDII) for funding. S.S.P. also acknowledges the US Department of Defense, US Army Medical Research Acquisition Activity, FY18 Peer Reviewed Medical Research Program Investigator-Initiated Research Award (award number W81XWH1920053). M.S.P. (SFRH/BD/110148/2015) acknowledges FCT for funding.info:eu-repo/semantics/publishedVersio
Doenças hereditárias do metabolismo: Um século de evolução
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Caso clínico imagiológico
Get PDFCase report: The authors present the case of a 15-year-old adolescent boy with occipital spur noticed since the previous year and with progressive enlargement. No history of trauma or other associated symptoms was evident. Physical examination showed a hard tumefaction with no inflammatory signs and x-ray revealed occipital hyperostosis. The boy spent most free time playing with mobile gadgets, with poor body posture.
Discussion/Conclusion: Although considered a normal feature, occipital spur in adolescents and young adults may be linked to poor posture, for instance associated with prolonged use of handheld technology. Exaggerated technology use may be associated with several complaints and musculoskeletal symptoms should not be neglected.info:eu-repo/semantics/publishedVersio
Psoriasis, biologic therapy, and the pandemic of the 21st century
Get PDFThe pandemic known as coronavirus disease-19 (COVID-19) has quickly spread worldwide, with a significant impact on lives all over the world. The complexity related to the new coronavirus and the clinical syndrome it causes is not yet fully understood. The impact of COVID-19 on patients with psoriasis under biologic agents is continuously being observed in this rapidly changing pandemic. A case-by-case evaluation must be made by dermatologists, and the final decision should be discussed and decided by both the patient and the specialist. Observations reveal that immunosuppressive therapy may have a role in the treatment of this virus, placing emphasis on the scenario of safety through maintenance of therapy with biologic agents, especially when there are no signs or symptoms related to the infection or contact with an infected patient.info:eu-repo/semantics/publishedVersio