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Tracheal Trifurcation: An Uncommon Cause of Recurrent Pneumonia
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Thrombotic events and COVID-19 vaccines
Get PDFCOVID-19 vaccines are considered promising agents in the control of the pandemic. Although their safety was assessed in randomised clinical trials, severe adverse events (AEs) have been reported after large-scale administration. This study aims to evaluate thromboembolic AEs reported after vaccination in a real-world context and how they led to the interruption of vaccination campaigns. We also review the benefits and risks of the vaccines approved in the European Union and provide recommendations. A review of the literature was performed using Medline/PubMed electronic database as well as institutional and pharmacovigilance official reports. Our findings show that vaccine-induced prothrombotic immune thrombocytopenia has been suggested as a very rare AE associated with viral vector vaccines. Unusual thrombotic events combined with moderate-to-severe thrombocytopenia were reported mainly in women under 60 years of age. As safety signals emerged, Vaxzevria and Janssen´s COVID-19 vaccine campaigns have been paused while investigations proceed. On the other hand, the number of deep vein thrombosis and pulmonary embolism reports have not increased. Post-marketing surveillance indicated that mRNA vaccines are safe and should continue to be used. The thrombotic events report rate is not increased in people over 60 years. As they are at greater risk for COVID-19 complications and death, no vaccine restrictions are recommended in this group. Risk factors for vaccine-induced prothrombotic immune thrombocytopenia should be established so that evidence-based decisions can be made. Systematic monitoring of COVID-19 vaccine safety is essential to ensure that the benefits of vaccination outweigh the risks.info:eu-repo/semantics/publishedVersio
Effectiveness of Tele-rehabilitation Programs in Heart Failure: A Systematic Review and Meta-analysis
Get PDFBackground: Tele-rehabilitation (TR) may be an effective alternative or complement to centre-based cardiac rehabilitation (CBCR) with heart failure (HF) patients, helping overcome accessibility problems to CBCR. The aim of this study is to systematically review the literature in order to assess the clinical effectiveness of TR programs in the management of chronic HF patients, compared to standard of care and standard rehabilitation (CBCR).
Methods and results: We conducted a systematic review and meta-analysis of randomized controlled trials on the effect and safety of TR programs in HF patients, regarding cardiovascular death, heart failure-related hospitalizations, functional capacity and quality of life. We searched 4 electronic databases up until May 2020, reviewed references of relevant articles and contacted experts. A quantitative synthesis of evidence was performed by means of random-effects meta-analyses. We included 17 primary studies, comprising 2206 patients. Four studies reported the number of hospitalizations (TR: 301; Control: 347). TR showed to be effective in the improvement of HF patients' functional capacity in the 6 Minute Walk-Test (Mean Difference (MD) 15.86; CI 95% [7.23; 24.49]; I2 = 74%) and in peak oxygen uptake (pVO2) results (MD 1.85; CI 95% [0.16; 3.53]; I2 = 93%). It also improved patients' quality of life (Minnesota Living with Heart Failure Questionnaire: MD -6.62; CI 95% [-11.40; -1.84]; I2 = 99%). No major adverse events were reported during TR exercise.
Conclusion: TR showed to be superior than UC without CR on functional capacity improvement in HF patients. There is still scarce evidence of TR impact on hospitalization and cv death reduction. Further research and more standardized protocols are needed to improve evidence on TR effectiveness, safety and cost-effectiveness.The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This article was supported by NORTE-01-0145-FEDER-032069 – “AdHeart – Engage with your heart”, financed by NORTE2020 under PORTUGAL2020; Project - NORTE-01-0145-FEDER-000026 – “Symbiotic technology for societal efficiency gains: Deus ex Machina”, financed by NORTE2020 under PORTUGAL2020; National Funds through FCT - Fundação para a Ciência e a Tecnologia, I.P., within CINTESIS, R&D Unit (reference UIDB/4255/2020).info:eu-repo/semantics/publishedVersio
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
Get PDFBackground: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world.
Methods: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other).
Results: We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently.
Conclusion: The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment.info:eu-repo/semantics/publishedVersio
Persistently positive anti‐NMDA receptor antibodies in chronic psychotic disorder: foe or innocent bystander?
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Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Get PDFWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance. The full spectrum of the phenotype cannot be explained by any of the heterozygous variants on their own; thus, a synergic contribution is proposed. Complementation studies showed that the FANCG gene from the Fanconi Anaemia/BRCA (FA/BRCA) DNA repair pathway was impaired, indicating that the variant in FANCG contributes to the cellular phenotype. The patient's chromosome instability represents the first report where heterozygous variant(s) in the FA/BRCA pathway are implicated in the cellular phenotype. We propose that a multigenic contribution of heterozygous variants in HDAC8 and the FA/BRCA pathway might have a role in the phenotype of this neurodevelopmental disorder. The importance of these findings may have repercussion in the clinical management of other cases with a similar synergic contribution of heterozygous variants, allowing the establishment of new genotype-phenotype correlations and motivating the biochemical study of the underlying mechanisms.This work was funded by the European Research Council (ERC) consolidator grant CODECHECK, under the European Union’s Horizon 2020 research and innovation programme (grant agreement 681443). Unit for Multidisciplinary Research in Biomedicine (UMIB) and ITR—Laboratory for Integrative and Translational Research in Population Health, supported by national funds throughthe Foundation for Science and Technology (FCT) Portugal (grant numbers UIDB/00215/2020, UIDP/00215/2020 and LA/P/0064/2020, respectively). N.M. and P.J. were awarded with CHU-Porto grants 2017 DEFI-CHUPorto and 2015 (145/12), respectively. A.J. was granted with the FCT Postdoctoral Fellowship SFRH/BPD/102435/2014 Ref.ª CRM:0012499info:eu-repo/semantics/publishedVersio
Brugada Pattern: Unraveling Possible Cardiac Manifestation of SARS-CoV-2 Infection
Get PDFWe report the case of a 41-year-old patient with no family history of sudden cardiac death. The patient presented with high fever and vomiting and was diagnosed with acute pyelonephritis. Screening for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection was positive. An electrocardiogram (ECG) performed during a fever episode revealed a Brugada pattern. Fever can be a trigger for induction of the electrocardiographic Brugada pattern but it is still unknown if the cardiac involvement by coronavirus disease 2019 (COVID-19) can interfere with myocardial ion channels.info:eu-repo/semantics/publishedVersio
SLC35A2-CDG: Novel variant and review
Get PDFSLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.info:eu-repo/semantics/publishedVersio
Psychological Morbidity in Endometriosis: A Couple’s Study
Get PDFEndometriosis is a chronic gynecological disease that impacts more than 176 million women worldwide, having a strong impact on psychological morbidity. This study aimed to evaluate the contribution of psychological morbidity, in women with endometriosis, taking into consideration the duration of the couple's relationship and the duration of the disease and also examined whether women's sexual satisfaction had an impact on their psychological morbidity (actor effect) and on their sexual partners' psychological morbidity (partner effect) and vice versa. Participants were 105 women and their partners, who answered the Hospital Anxiety and Depression Scale (HADS); Couple Satisfaction Index (CSI-4) and the Global Measure of Sexual Satisfaction (GMSEX). The results revealed a direct effect between the perception of symptom severity, marital satisfaction, and women's psychological morbidity. Sexual activity and the presence of infertility had an indirect effect on the relationship between sexual satisfaction, diagnosis duration, and psychological morbidity, respectively. Finally, women's sexual satisfaction had a direct effect on their own and their partner's marital satisfaction that predicted less psychological morbidity, in both. Thus, a multidisciplinary intervention focused on the couple's sexual and marital relationship is needed to promote psychological well-being in this population.info:eu-repo/semantics/publishedVersio