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Partial Papillary Muscle Rupture after Myocardial Infarction and Early Severe Obstructive Bioprosthetic Valve Thrombosis: an Unusual Combination
Get PDFMechanical complications after myocardial infarction (MI) have become uncommon since the introduction of primary angioplasty. They can lead to a rapid clinical deterioration and a fatal outcome, with patient’s survival being dependent on their prompt recognition and intervention. We describe a case of two rare mechanical complications: a partial papillary muscle rupture after MI, followed by an early severe obstructive thrombosis of the implanted bioprosthetic valve.info:eu-repo/semantics/publishedVersio
Thrombus aspiration in patients with ST-elevation myocardial infarction: results of a national registry of interventional cardiology
Get PDFBACKGROUND:
We aimed to evaluate the impact of thrombus aspiration (TA) during primary percutaneous coronary intervention (P-PCI) in 'real-world' settings.
METHODS:
We performed a retrospective study, using data from the National Registry of Interventional Cardiology (RNCI 2006-2012, Portugal) with ST-elevation myocardial infarction (STEMI) patients treated with P-PCI. The primary outcome, in-hospital mortality, was analysed through adjusted odds ratio (aOR) and 95% confidence intervals (95%CI).
RESULTS:
We assessed data for 9458 STEMI patients that undergone P-PCI (35% treated with TA). The risk of in-hospital mortality with TA (aOR 0.93, 95%CI:0.54-1.60) was not significantly decreased. After matching patients through the propensity score, TA reduced significantly the risk of in-hospital mortality (OR 0.58, 95%CI:0.35-0.98; 3500 patients).
CONCLUSIONS:
The whole cohort data does not support the routine use of TA in P-PCI, but the results of the propensity-score matched cohort suggests that the use of selective TA may improve the short-term risks of STEMI.info:eu-repo/semantics/publishedVersio
Identification of rare de novo epigenetic variations in congenital disorders
Get PDFCertain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome sequencing (WGS), a substantial fraction of such disorders remain unexplained. We hypothesize that some cases of ND-CA are caused by aberrant DNA methylation leading to dysregulated genome function. Comparing DNA methylation profiles from 489 individuals with ND-CAs against 1534 controls, we identify epivariations as a frequent occurrence in the human genome. De novo epivariations are significantly enriched in cases, while RNAseq analysis shows that epivariations often have an impact on gene expression comparable to loss-of-function mutations. Additionally, we detect and replicate an enrichment of rare sequence mutations overlapping CTCF binding sites close to epivariations, providing a rationale for interpreting non-coding variation. We propose that epivariations contribute to the pathogenesis of some patients with unexplained ND-CAs, and as such likely have diagnostic relevance.The authors are grateful to the patients and families who participated in this study and to
the collaborators who supported patient recruitment. This work was supported by NIH
grant HG006696 and research grant 6-FY13-92 from the March of Dimes to A.J.S., grant
HL098123 to B.D.G. and A.J.S., Gulbenkian Programme for Advanced Medical Education
and the Portuguese Foundation for Science and Technology (SFRH/BDINT/51549/
2011, PIC/IC/83026/2007, PIC/IC/83013/2007, SFRH/BD/90167/2012, Portugal) to P.M.,
F.L., and M.B., by the Northern Portugal Regional Operational Programme (NORTE
2020), under the Portugal 2020 Partnership Agreement, through the European Regional
Development Fund (FEDER) (NORTE-01-0145-FEDER-000013) to P.M., a Beatriu de
Pinos Postdoctoral Fellowship to R.S.J. (2011BP-A00515), and a Seaver Foundation
fellowship to S.D.R. The views expressed are those of the authors and do not necessarily
reflect those of the National Heart, Lung, and Blood Institute or the National Institutes of
Health. Research reported in this paper was supported by the Office of Research
Infrastructure of the National Institutes of Health under award number S10OD018522.
This work was supported in part through the computational resources and staff expertise
provided by Scientific Computing at the Icahn School of Medicine at Mount Sinai.info:eu-repo/semantics/publishedVersio
Correlações clínicas, funcionais e imagiológicas após artroplastia da articulação metacarpofalangiana com implante de silicone na mão reumatoide
No full textObjective: Evaluation of rheumatoid hand-associated metacarpophalangeal joint silicone arthroplasty most often relies on functional scores alone. This study aimed to understand the correlation between perceived and observed function, strength, and alignment.
Methods: Cross-sectional study including all 11 women (15 hands) submitted to second to fifth metacarpophalangeal joint arthroplasty due to rheumatoid arthritis involvement for a time period of seven years. Measurements relied on the Michigan Hand Outcomes Questionnaire, Lafayette Purdue Pegboard, pinch and grip strength, and analysis of a lateral "OK-sign" X-ray view. Correlation analysis used Spearman's coefficient, assuming statistical significance for p-values < 0.05.
Results: Objective function was strongly correlated with all other variables (p < 0.05), while perceived function failed to correlate with articular alignment in both measurements (p = 0.240 and p = 0.354). Strength and alignment were also strongly correlated (p < 0.05).
Conclusions: Most measurements strongly correlate with each other, with emphasis on objective dexterity measurement.info:eu-repo/semantics/publishedVersio
Organização dos cuidados de reabilitação nas unidades de cuidados intensivos portuguesas
Get PDFObjective: To describe the different rehabilitation care models in practice in Portuguese adult intensive care units.
Methods: A simple observational (cross-sectional) study was conducted through an online survey sent to the head nurses or individuals responsible for the 58 adult intensive care units that are part of the database of the Sociedade Portuguesa de Cuidados Intensivos.
Results: We identified three models of organization of rehabilitation care: care provided by the staff of the intensive care unit (22.9%), care provided by specialized external teams (25.0%), and a mixture of the previous models, combining the two situations (52.1%). In the first model, the care was provided mainly by nurses with specialization in rehabilitation and, in the second model, the care was provided by physiotherapists. No significant differences were found between the models regarding the availability of care, in hours/day or days/week (p = 0.268 and 0.994, respectively), or results such as length of hospital stay in intensive care, ventilation time, or mortality rate in the unit (p = 0.418, 0.923, and 0.240, respectively).
Conclusion: The organization of rehabilitation care in Portuguese intensive care units is unique and heterogeneous. Despite different care organization models, the availability of hours of care is similar, as are the overall results observed in patients.Objetivo:
Descrever os diferentes modelos de prestação de cuidados de reabilitação em prática nas unidades de cuidados intensivos de adultos portuguesas.
Métodos:
Estudo observacional simples (transversal), realizado por meio de inquérito on-line enviado aos enfermeiros-chefes ou responsáveis das 58 unidades de cuidados intensivos de adultos que integram a base de dados da Sociedade Portuguesa de Cuidados Intensivos.
Resultados:
Foram identificados três modelos de organização dos cuidados de reabilitação: cuidados prestados pela equipe da unidade de cuidados intensivos (22,9%), cuidados prestados por equipes externas especializadas (25,0%), um misto dos modelos anteriores, conjugando as duas situações (52,1%). No primeiro modelo, os cuidados eram prestados essencialmente por enfermeiros com especialização em reabilitação e, no segundo, por fisioterapeutas. Não foram encontradas diferenças significativas entre os modelos no que diz respeito à disponibilidade de cuidados, em horas/dia ou dias/semana (p = 0,268 e 0,994 respetivamente), ou a resultados como tempo de internamento em cuidados intensivos, tempo de ventilação ou taxa de mortalidade na unidade (p = 0,418, 0.923 e 0,240 respetivamente).
Conclusão:
A organização dos cuidados de reabilitação nas unidades de cuidados intensivos portuguesas é singular e heterogênea. Apesar dos diferentes modelos de organização de cuidados, a disponibilidade de horas de cuidados é semelhante, bem como os resultados gerais observados nos doentes.info:eu-repo/semantics/publishedVersio
Home-based Rehabilitation With A Novel Digital Biofeedback System versus Conventional In-person Rehabilitation after Total Knee Replacement: a feasibility study
Get PDFIn-person home-based rehabilitation and telerehabilitation can be as effective as clinic-based rehabilitation after total knee arthroplasty (TKA), but require heavy logistics and are highly dependent on human supervision. New technologies that allow independent home-based rehabilitation without constant human supervision may help solve this problem. This was a single-center, feasibility study comparing a digital biofeedback system that meets these needs against conventional in-person home-based rehabilitation after TKA over an 8-week program. Primary outcome was the change in the Timed Up and Go score between the end of the program and baseline. Fifty-nine patients completed the study (30 experimental group; 29 conventional rehabilitation). The study demonstrated a superiority of the experimental group for all outcomes. Adverse events were similar in both groups. This is the first study to demonstrate that a digital rehabilitation solution can achieve better outcomes than conventional in-person rehabilitation, while less demanding in terms of human resources.his work was supported by the European Commission through the Project H2020 SME Instrument Phase 2 - Grant Agreement number 672814.info:eu-repo/semantics/publishedVersio
Artogripose múltipla congénita em gestação gemelar monocoriónica biamniótica
No full textArthrogryposis multiplex congenita is a clinically and etiologically heterogeneous group of diseases characterized by presence of contractures involving at least two different body areas. It is observed in one in every 3000−5000 live births. A case of singleton arthrogryposis in a spontaneous monochorionic diamniotic twin pregnancy is reported. Diagnosis was established after morphological ultrasound. There were no further complications during pregnancy. After cesarean delivery, diagnosis of amyoplasia involving the four limbs was confirmed. Newborn is currently undergoing motor rehabilitation. The higher risk of singleton arthrogryposis in monochorionic twin pregnancies is documented and appears to be related with vascular changes early in the course of pregnancy. In amyoplasia, some degree of disability and dependency is expected, even with postnatal rehabilitation.A artrogripose múltipla congénita é um grupo clinica e etiologicamente heterogéneo de doenças, caracterizado pela presença de contraturas envolvendo pelo menos duas áreas corporais distintas. Tem uma incidência de 1 em cada 3000−5000 recém- -nascidos. É reportado um caso clínico de artrogripose unifetal em gravidez gemelar monocoriónica biamniótica espontânea. O diagnóstico foi estabelecido após ecografia morfológica, tendo a gravidez decorrido sem outras intercorrências. Após parto por cesariana, confirmou-se o diagnóstico de amioplasia envolvendo os quatro membros. O recém-nascido encontra-se atualmente em processo de reabilitação motora. Está documentado o aumento da incidência de artrogripose unifetal na gravidez gemelar monocoriónica, que parece relacionar-se com alterações vasculares na gravidez inicial. Em situações de amioplasia, é de prever a manutenção de algum grau de dependência e incapacidade motora, mesmo com reabilitação pós-natal
Epidemiology of Superficial Fungal Infections in Portugal: 3-Year Review (2014-2016)
Get PDFIntrodução: As infeções fúngicas superficiais são as dermatoses infeciosas mais frequentes e a sua incidência continua a aumentar. Os dermatófitos são os principais agentes causais apresentando, contudo, uma distribuição geográfica variável.
Material e Métodos: O presente estudo teve como objetivo a caracterização epidemiológica das infeções fúngicas superficiais diagnosticadas nos Serviços/Unidades de Dermatologia pertencentes ao Serviço Nacional de Saúde Português entre janeiro de 2014 e dezembro 2016 através da análise retrospetiva dos resultados das culturas realizadas durante esse período.
Resultados: Foram estudados 2375 isolamentos, pertencentes a 2319 doentes. O dermatófito mais frequentemente isolado foi o Trichophyton rubrum (53,6%), tendo sido o principal agente causal da tinha da pele glabra (52,4%) e das onicomicoses (51,1%). Relativamente às tinhas do couro cabeludo, globalmente o Microsporum audouinii foi o agente mais prevalente (42,6%), seguido do Trichophyton soudanense (22,1%). Enquanto na área metropolitana de Lisboa estes dermatófitos foram os principais agentes de tinha do couro cabeludo, nas regiões Norte e Centro o agente mais frequente foi o Microsporum canis (58,5%). Os fungos leveduriformes foram os principais responsáveis pelas onicomicoses das mãos (76,7%).
Conclusão: Os resultados deste estudo estão globalmente concordantes com a literatura científica. O Trichophyton rubrum apresenta-se como o dermatófito mais frequentemente isolado em cultura. Na tinha do couro cabeludo, na área metropolitana de Lisboa, as espécies antropofílicas de importação assumem particular destaque.info:eu-repo/semantics/publishedVersio
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene
Get PDFA broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants. Bioinformatic, transcriptomic (real time PCR, RT-PCR), and genomic approaches (Southern blot, long-range PCR, and single molecule real-time sequencing) were used to characterize the mutation. An aberrant transcript was identified, containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene. This corresponded to the partial exonization of a long interspersed nuclear element (LINE-1), disrupting the open reading frame. Further characterization identified a complete LINE-1 (~6 kb with typical hallmarks) deeply inserted in intron 51. Haplotyping and segregation analysis demonstrated that the mutation had a de novo origin. Besides underscoring the importance of mRNA studies in genetically unsolved cases, this is the first report of a disease-causing fully intronic LINE-1 element in DMD, adding to the diversity of mutational events that give rise to D/BMD.The authors are grateful to the patient and his family for accepting to collaborate in this work. The authors also wish to thank Dr. Stefan White and Yavuz Ariyurek from the Leiden University Medical Center (Netherlands) for facilitating the Single Molecule Real Time (PacBio) sequencing work. A research grant was attributed to J.O. by “Fundo para a Investigação e Desenvolvimento do Centro Hospitalar do Porto” (Grant ref.: 336-13(196-DEFI/285-CES)). The work was also supported by the authors’ Institutions and in part by UMIB, which is funded by “Fundação para a Ciência e Tecnologia (FCT)” under the Pest-OE/SAU/UI0215/2014.info:eu-repo/semantics/publishedVersio
Pre-operative predictors of red blood cell transfusion in liver transplantation
Get PDFinfo:eu-repo/semantics/publishedVersio