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Estudio Epidemiológico Transversal para Comprender el Abordaje del Tratamiento en la Atención Habitual de Pacientes con Hemofilia B en España y Portugal
No full textIntroduction: Treatment options for patients with hemophilia B (PWHB) have improved in the last decade, but epidemiological studies are required to optimize clinical management and define unmet needs. Objective: The objective of the study is to investigate current disease management and quality of life (QoL) in PWHB in Spain and Portugal. Methods: Epidemiological, cross-sectional, multicenter study with moderately severe and severe PWHB. Sociodemographic, epidemiological, clinical, treatment, and QoL data were collected retrospectively over a 24-month period. Results: Of the 75 patients included in the study, 78.7% received prophylactic treatment and 21.3% on demand; 65.3% were treated with SHL-FIX and 10.7% with rIX-FP. Bleeding occurred in 81.3%, mainly in the form of spontaneous bleeding. Prophylaxis resulted in a lower annualized bleeding rate, better joint health, and better QoL, compared to on-demand treatments. Patients treated with rIX-FP throughout
the study had better disease control and QoL than those treated with SHL-FIX. Conclusion: With the largest sample to date of PWHB from Spain and Portugal, our understanding of the management and impact of hemophilia B is broadened and, in accordance with previous evidence, it shows the benefits of prophylaxis and the advantages that the FIX extended half life products life FIX can offer.info:eu-repo/semantics/publishedVersio
Cardiopulmonary Exercise Testing in the Age of New Heart Failure Therapies: Still a Powerful Tool?
No full textBackground: New therapies with prognostic benefits have been recently introduced in heart failure with reduced ejection fraction (HFrEF) management. The aim of this study was to evaluate the prognostic power of current listing criteria for heart transplantation (HT) in an HFrEF cohort submitted to cardiopulmonary exercise testing (CPET) between 2009 and 2014 (group A) and between 2015 and 2018 (group B).
Methods: Consecutive patients with HFrEF who underwent CPET were followed-up for cardiac death and urgent HT.
Results: CPET was performed in 487 patients. The composite endpoint occurred in 19.4% of group A vs. 7.4% of group B in a 36-month follow-up. Peak VO2 (pVO2) and VE/VCO2 slope were the strongest independent predictors of mortality. International Society for Heart and Lung Transplantation (ISHLT) thresholds of pVO2 ≤ 12 mL/kg/min (≤14 if intolerant to β-blockers) and VE/VCO2 slope > 35 presented a similar and lower Youden index, respectively, in group B compared to group A, and a lower positive predictive value. pVO2 ≤ 10 mL/kg/min and VE/VCO2 slope > 40 outperformed the traditional cut-offs. An ischemic etiology subanalysis showed similar results.
Conclusion: ISHLT thresholds showed a lower overall prognostic effectiveness in a contemporary HFrEF population. Novel parameters may be needed to improve risk stratification
Cerebral Venous Sinus Thrombosis in Traumatic Brain Injury: a Systematic Review of its Complications, Effect on Mortality, Diagnostic and Therapeutic Management, and Follow-Up.
No full textObjective: Cerebral venous sinus thrombosis (CVST) is increasingly being recognized in the setting of traumatic brain injury (TBI), but its effect on TBI patients and its management remains uncertain. Here, we systematically review the currently available evidence on the complications, effect on mortality and the diagnostic and therapeutic management and follow-up of CVST in the setting of TBI.
Methods: Key clinical questions were posed and used to define the scope of the review within the following topics of complications; effect on mortality; diagnostics; therapeutics; recanalization and follow-up of CVST in TBI. We searched relevant databases using a structured search strategy. We screened identified records according to eligibility criteria and for information regarding the posed key clinical questions within the defined topics of the review.
Results: From 679 identified records, 21 studies met the eligibility criteria and were included, all of which were observational in nature. Data was deemed insufficiently homogenous to perform meta-analysis and was narratively synthesized. Reported rates of venous infarctions ranged between 7 and 38%. One large registry study reported increased in-hospital mortality in CVSP and TBI compared to a control group with TBI alone in adjusted analyses. Another two studies found midline CVST to be associated with increased risk of mortality in adjusted analyses. Direct data to inform the optimum diagnostic and therapeutic management of the condition was limited, but some data on the safety, and effect of anticoagulation treatment of CVST in TBI was identified. Systematic data on recanalization rates to guide follow-up was also limited, and reported complete recanalization rates ranged between 41 and 86%. In the context of the identified data, we discuss the diagnostic and therapeutic management and follow-up of the condition.
Conclusion: Currently, the available evidence is insufficient for evidence-based treatment of CVST in the setting of TBI. However, there are clear indications in the presently available literature that CVST in TBI is associated with complications and increased mortality, and this indicates that management options for the condition must be considered. Further studies are needed to confirm the effects of CVST on TBI patients and to provide evidence to support management decisions.https://www.crd.york.ac.uk/prospero/, identifier: PROSPERO [CRD42021247833]
Personalized Medicine: Paradigm Shift in ALK Positive Non-Small Cell Lung Cancer: a Case Report
No full textBackground: Since the identification of multiple therapeutic targets, as is the case of anaplastic lymphoma kinase (ALK) translocation, the paradigm of treating patients with non-small cell lung cancer (NSCLC) has improved. In order to guarantee the possibility of longer survival outcomes with a better quality of life we must invest in the determination, in suitable time, of the consensual biomarkers and in the availability of the best treatments to our patients.
Case presentation: We present a case of a caucasian male in his fifth decade of life, non-smoker, who highlights the complex journey of ALK-positive patients. This particular case, demonstrates the efficacy and tolerability of the new ALK target therapies, allowing our patients to maintain their routines without compromising the effectiveness of the therapy.
Conclusion: Focusing on the reality of ALK positive patients and the impact that this therapy has on the daily lives of our patients, we can contribute to the awareness of this specific pathology.info:eu-repo/semantics/publishedVersio
Dispositivo de Redução do Seio Coronário no Tratamento de Angina Refratária: uma Experiência Multicêntrica
No full textIntroduction: The coronary sinus Reducer (CSR) device has emerged as a complementary therapy in patients with severe angina refractory to optimal medical therapy and not amenable to revascularization. Our aim was to assess the safety and efficacy of the CSR in a real-world setting.
Methods: Twenty-six patients with refractory angina (RA) and evidence of myocardial ischemia attributable to the left coronary artery considered unsuitable for revascularization were treated with the CSR at two centers between May 2017 and July 2019. Safety endpoints were procedural success and complications. Efficacy endpoints, assessed at six-month follow-up, were reduction in CCS class, improvement in quality of life (QoL) assessed using the short version of the Seattle Angina Questionnaire (SAQ-7), and reduction in antianginal therapy.
Results: Twenty-three patients had end-stage coronary artery disease without revascularization targets and three had microvascular disease without epicardial stenosis. Procedural success was achieved in 23 patients, with two device/procedure-related complications and one anatomically-related failure to deliver the device. A total of 24 patients had the device implanted and entered the efficacy analysis. Eighteen patients (75.0%) had a reduction of at least one CCS class, 41.7% had a reduction of at least two classes, and 16.7% became asymptomatic, with a mean reduction in CCS class of 1.3±0.2 (p=0.001) at six-month follow-up. All SAQ-7 domains improved, notably physical limitation (p=0.001), angina frequency (p=0.005) and QoL (p=0.006). There was a mean reduction in anti-ischemic drugs from 3.4±1.1 to 2.9±1.2 (p=0.010).
Conclusion: In this real-world, multicenter experience, implantation of the CSR was associated with improvement in angina and QoL in patients with RA.Introdução: O dispositivo de redução do seio coronário (DRSC) constitui uma terapêutica
complementar em doentes com angina refratária à terapêutica médica e não passíveis de
revascularização. O objectivo era avaliar a segurança e eficácia do DRSC numa coorte do mundo
real.
Métodos: Vinte e seis doentes com angina refratária, evidência de isquemia miocárdica
atribuível à artéria coronária esquerda e considerados inadequados para revascularização foram
tratados com o DRSC em dois centros terciários portugueses entre maio de 2017 e julho de 2019.
Os endpoints de segurança foram o sucesso do procedimento e complicações. Os endpoints de
eficácia, avaliados aos seis meses de follow-up, foram uma redução na classe de angina da CCS,
melhoria na qualidade de vida avaliada pela versão abreviada do Seattle Angina Questionnaire
(SAQ-7) e redução na terapêutica antianginosa.
Resultados: Vinte e três doentes tinham doença coronária sem alvos de revascularização e três,
doença microvascular sem estenoses epicárdicas. O sucesso do procedimento foi alcançado em
23 doentes, com duas complicações relacionadas com dispositivo/procedimento e uma falha na
entrega do dispositivo. No total, 24 doentes implantaram o dispositivo e entraram na análise
de eficácia. Dezoito doentes (75,0%) sofreram uma redução de pelo menos uma classe CCS,
41,7% sofreram uma redução de pelo menos duas classes e 16,7% tornaram-se assintomáticos, com uma redução média da classe CCS de 1,3±0,2 (p=0,001), seis meses de follow-up.
Verificou-se uma melhoria de todos os domínios do SAQ-7, nomeadamente limitação física
(p=0,001), frequência de angina (p=0,005) e qualidade de vida (p=0,006). Verificou-se uma
redução média de fármacos antianginosos de 3,4±1,1 para 2,9±1,2 (p=0,010).
Conclusão: Nesta experiência multicêntrica do mundo real, a implantação do DRSC foi associada
à melhoria das queixas anginosas e da qualidade de vida em doentes com angina refratária não
passível de revascularização.info:eu-repo/semantics/publishedVersio
Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actual Intakes
No full textIn phenylketonuria (PKU), an important component of the UK dietary management system is a 50 mg phenylalanine (Phe)/1 g protein exchange system used to allocate the Phe/natural protein intakes according to individual patient tolerance. Any foods containing protein ≤ 0.5 g/100 g or fruits/vegetables containing Phe ≤ 75 mg/100 g are allowed without measurement or limit. In children with PKU, we aimed to assess the difference between the prescribed natural protein intake and their actual consumed intake, and to calculate the natural protein/Phe intake from foods given without measurement or restriction. Over a 6-month duration, three one-day diet diaries were collected every month by caregivers of children with PKU at the beginning of a follow-up study. Dietary intakes of Phe, as well as natural and total protein intakes, were calculated using Nutritics® (v5.09). Weekly blood Phe spots were collected by caregivers. The target blood Phe level was ≤360 μmol/L for ages up to 12 years and ≤600 μmol/L for ages ≥12 years. Sixteen early treated children (69% females) with PKU were recruited. The median age was 11 years (range: 9-13), and most had classical PKU (n = 14/16). A median of 18 (range 12-18) one-day diaries and 22 blood spots were analysed for each subject over 6 months. The median prescribed natural protein was 6 g/day (range: 3-27), but when calculated, the actual median intake from all foods consumed was 10 g/day (range: 4-37). The median prescribed Phe was 300 mg/day (range: 150-1350), but the actual median intake was 500 mg/day (range: 200-1850). The median difference between the prescribed and actual natural protein daily intakes was +4 g/day (range: -2.5 to +11.5), with a median percentage increase of 40% for natural protein/Phe intake (p < 0.001). The median blood Phe level was 250 μmol/L (range 20-750), with 91% of blood Phe levels within the target range. Only one patient (11 years) had less than 75% of their blood Phe levels within the target range. The UK Phe exchange system provides flexibility in the dietary management of PKU. With this method, the actual natural protein intake was 167% higher than the prescribed amount. Although this led to a variable daily protein intake, the majority of children (n = 15/16) experienced no deterioration in their metabolic control.info:eu-repo/semantics/publishedVersio
Existe Associação entre Acufeno e Disfunção Temporomandibular?
No full textA coexistência frequente de acufeno e distúrbios da articulação temporomandibular e dos músculos da
mastigação (DTM) levou à suposição de que existe uma relação entre as duas condições. O objetivo deste trabalho foi avaliar a prevalência de acufeno em doentes com DTM e os efeitos do tratamento desta sobre o acufeno. Foram incluídos 57 doentes seguidos em consulta de Estomatologia - DTM no ano 2021 e primeiro semestre de 2022. Foi questionada a presença de acufeno e aplicado o questionário Tinnitus Handicap Index (THI). 72% tiveram 1 ou mais episódios de acufeno. 89,5% eram do sexo feminino e verificaram-se 2 picos
de incidência na faixa etária entre os 18-30 (21,1%) e os 41-50 anos (24,6%). Em 85,4% dos doentes o
acufeno era intermitente e 41,5% grau reduzido. Foi encontrada associação entre a lateralidade do acufeno e da DTM (p<0.001). 67% melhorou o acufeno após terapêutica para DTM (p= 0.0135).info:eu-repo/semantics/publishedVersio
A Case of Trigeminal Malignant Melanotic Nerve Sheath Tumor in the Wide Spectrum of Melanotic and Nerve Sheath Tumors
No full textinfo:eu-repo/semantics/publishedVersio
Left Ovarian Vein Thrombophlebitis in the Postpartum Period
No full textAssessment of abdominal pain in puerperal women can be challenging given that physiological and often self-limited benign causes predominate in this clinical context, although the etiological spectrum is wide and includes serious and potentially fatal causes. The paper presents a case of left ovarian thrombophlebitis, clinically manifested from the fifth day of puerperium in a 30-year-old patient. Clinicians should have a high degree of suspicion of rare adnexal thromboembolic events in postpartum period when frequent symptoms (fever, pain) and analytical changes (leukocytosis, increased C-reactive protein) occur in association with the imaging findings of edematous ovary with vascular congestion, even if there are other possible explanations for such a clinical situation.info:eu-repo/semantics/publishedVersio