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- Artrodese versus artroplastia da primeira articulação metatarsofalângica no tratamento do hallux rigidus – Estudo comparativo de pacientes selecionados apropriadamentePublication . Santos Silva, Marta; Rodrigues-Pinto, Ricardo; Barros, Luís H.; Sousa, Arnaldo; Muras, JoséObjective Historical results of arthroplasty of the first metatarsophalangeal joint (1MTP) are relatively poor; however, improvements in the understanding of the normal foot biomechanics, implant materials and design currently make arthroplasty a reasonable option in appropriately selected patients. The present study aimed to compare the clinical and radiographic results of 1MTP arthrodesis and arthroplasty in the treatment of hallux rigidus and to present a rationale for patient selection for arthroplasty. Methods A total of 36 patients (38 feet) with hallux rigidus submitted to surgery (12 arthrodesis and 26 arthroplasties) were prospectively included in the study. Pain was assessed using the visual analogue scale (VAS) and the functional status was assessed using the American Orthopedic Foot and Ankle Society Hallux Metatarsophalangeal-Interphalangeal (AOFAS-HMI) scale. Complications and radiographic results were also analyzed, and survival rates were calculated for both procedures. Results All of the patients reported significant improvement in pain and functional status after surgery. Patients submitted to arthroplasty had better functional results on the AOFAS-HMI scale (89.7 versus 65.7 points; p < 0.001) and better pain relief (VAS 1.6 versus 3.9 points; p = 0.002) when compared with the group submitted to arthrodesis. There was one case of infection in the arthroplasty group and 2 cases of pseudarthrosis in the arthrodesis group. Conclusion Arthrodesis provides pain relief and satisfactory results but alters the biomechanics of gait. Like arthrodesis, arthroplasty improves pain significantly, being a more physiological alternative to preserve the biomechanics of the foot. While the two surgical methods yielded good clinical results, selected patients submitted to arthroplasty had better clinical scores and lower revision rates.
- Comparison of Kristjansson Respiratory Score and Wang Respiratory Score in infants with bronchiolitis in a hospital emergency departmentPublication . Pinto, Frederico Ramos; Correia-Costa, Liane; Azevedo, InêsObjective: Several respiratory scores have been created to evaluate bronchiolitis' severity level, but it is still not clear which is the best score. The aim of this study is to compare the Wang Respiratory Score (WRS) and the Kristjansson Respiratory Score (KRS) in the setting of an emergency room. Methods: We performed a prospective observational study with 60 infants with bronchiolitis admitted to a paediatric emergency department. For both scores, we assessed inter-rater reliability between two different health professionals (physician and physiotherapist), internal consistency, and correlation with SpO2 testing the intraclass-correlation coefficient (ICC), weighted kappa, Cronbach α coefficient and Spearman tests, respectively. Results: The inter-rater reliability was higher in KRS (ICC 0.79) and the Cronbach α and weighted kappa had similar values in KRS versus WRS. The correlation between the KRS/WRS and SpO2 was poor/moderate upon admission and discharge for the first observer and the second observer. Conclusions: While the internal consistency was similar in both scores, inter-rater reliability of KRS was higher than WRS, which allows us to conclude that it would have more consistent results when used to assess bronchiolitis' level of severity by health personnel in a busy hospital emergency room.
- The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VIIPublication . Wang, Raymond Y.; da Silva Franco, José Francisco; López-Valdez, Jaime; Martins, Esmeralda; Sutton, Vernon Reid; Whitley, Chester B.; Zhang, Lin; Cimms, Tricia; Marsden, Deborah; Jurecka, Agnieszka; Harmatz, PaulVestronidase alfa (recombinant human beta-glucuronidase) is an enzyme replacement therapy (ERT) for Mucopolysaccharidosis (MPS) VII, a highly heterogeneous, ultra-rare disease. Twelve subjects, ages 8-25 years, completed a Phase 3, randomized, placebo-controlled, blind-start, single crossover study (UX003-CL301; NCT02377921), receiving 24-48 weeks of vestronidase alfa 4 mg/kg IV. All 12 subjects completed the blind-start study, which showed significantly reduced urinary glycosaminoglycans (GAG) and clinical improvement in a multi-domain responder index, and enrolled in a long-term, open-label, extension study (UX003-CL202; NCT02432144). Here, we report the final results of the extension study, up to an additional 144 weeks after completion of the blind-start study. Three subjects (25%) completed all 144 weeks of study, eight subjects (67%) ended study participation before Week 144 to switch to commercially available vestronidase alfa, and one subject discontinued due to non-compliance after receiving one infusion of vestronidase alfa in the extension study. The safety profile of vestronidase alfa in the extension study was consistent with observations in the preceding blind-start study, with most adverse events mild to moderate in severity. There were no treatment or study discontinuations due to AEs and no noteworthy changes in a standard safety chemistry panel. Out of the eleven subjects who tested positive for anti-drug antibodies at any time during the blind-start or extension study, including the baseline assessment in the blind-start study, seven subjects tested positive for neutralizing antibodies and all seven continued to demonstrate a reduction in urinary GAG levels. There was no association between antibody formation and infusion associated reactions. Subjects receiving continuous vestronidase alfa treatment showed a sustained urinary GAG reduction and clinical response evaluated using a multi-domain responder index that includes assessments in pulmonary function, motor function, range of motion, mobility, and visual acuity. Reduction in fatigue was also maintained in the overall population. As ERT is not expected to cross the blood brain barrier, limiting the impact on neurological signs of disease, and not all subjects presented with neurological symptoms, outcomes related to central nervous system pathology are not focused on in this report. Results from this study show the long-term safety and durability of clinical efficacy in subjects with MPS VII with long-term vestronidase alfa treatment.
- Wearable Health Technology to Quantify the Functional Impact of Peripheral Neuropathy on Mobility in Parkinson’s Disease: A Systematic ReviewPublication . Corrà, Marta; Warmerdam, Elke; Vila-Chã, Nuno; Maetzler, Walter; Maia, LuisThe occurrence of peripheral neuropathy (PNP) is often observed in Parkinson's disease (PD) patients with a prevalence up to 55%, leading to more prominent functional deficits. Motor assessment with mobile health technologies allows high sensitivity and accuracy and is widely adopted in PD, but scarcely used for PNP assessments. This review provides a comprehensive overview of the methodologies and the most relevant features to investigate PNP and PD motor deficits with wearables. Because of the lack of studies investigating motor impairments in this specific subset of PNP-PD patients, Pubmed, Scopus, and Web of Science electronic databases were used to summarize the state of the art on PNP motor assessment with wearable technology and compare it with the existing evidence on PD. A total of 24 papers on PNP and 13 on PD were selected for data extraction: The main characteristics were described, highlighting major findings, clinical applications, and the most relevant features. The information from both groups (PNP and PD) was merged for defining future directions for the assessment of PNP-PD patients with wearable technology. We established suggestions on the assessment protocol aiming at accurate patient monitoring, targeting personalized treatments and strategies to prevent falls and to investigate PD and PNP motor characteristics.
- Parapharyngeal schwannoma—a challenging case reportPublication . Monteiro, Carlos; Saleiro, Rute; Ventura, Eduardo; Dionísio, Sílvia; Ferreira, ÂngelaParapharyngeal space primary neoplasias are infrequent findings in clinics, and schwannoma derived from a peripheral nerve is even rarer in this anatomic area [1]. The presented case is a patient who was referred to our department with a 3 months progressive soft palate enlargement without related symptoms. The challenge, in these cases, due to the anatomic complex area, is to catch a suitable approach to remove the tumor, according to dimension and surrounding structures. Prognosis and follow-up will depend on histopathologic evaluation.
- Rapid test detection of anti-infliximab antibodies: performance comparison with three different immunoassaysPublication . Rocha, Cátia; Lago, Paula; Fernandes, Samuel; Correia, Luís; Portela, Francisco; Vieira, Ana Isabel; Patita, Marta; Arroja, Bruno; Ministro, Paula; Alves, Catarina; Dias, Cláudia Camila; Magro, FernandoBackground and aims: Therapeutic drug monitoring (TDM) of infliximab (IFX) and anti-infliximab antibodies (ATIs) is essential for treatment optimisation in inflammatory bowel disease (IBD) patients. The aim of this study was to estimate and compare the agreement and accuracy between a new rapid test and three established enzyme-linked immunosorbent assays (ELISAs) to quantify ATIs levels, and to evaluate the impact of exogenous IFX on the performance of these assays. Methods: We analysed 200 serum samples from 57 IBD outpatients in IFX induction or maintenance therapy at six IBD centres in Portugal. ATI levels were quantified using the rapid test Quantum Blue® (QB) Anti-Infliximab (Bühlmann) and three established ELISAs: In-House, Theradiag (Lisa Tracker Anti-Infliximab), and Immundiagnostik (IDKmonitor Infliximab). ATIs were quantified in patients' serum samples and spiked samples with exogenous IFX, based on analytical and clinical cutoffs. Qualitative agreement and accuracy were estimated by Cohen's kappa (k) with 95% confidence intervals. Results: ATIs quantification with clinical cutoffs showed a slight agreement between QB rapid test and In-House [k = 0.163 (0.051-0.276)] and Immundiagnostik [k = 0.085 (0.000-0.177)]. Regarding IFX/ATIs status, the QB rapid test showed a substantial agreement with Theradiag [k = 0.808 (0.729-0.888)] and a fair agreement with In-House [k = 0.343 (0.254-0.431)] and Immundiagnostik [k = 0.217 (0.138-0.297)]. The QB rapid test could not detect ATI-positive levels in samples with exogenous IFX at 5-300 µg/ml. Interference on ATIs detection was observed at exogenous IFX ⩾30 µg/ml for In-house and Immundiagnostik assays. Conclusion: QB rapid test is only suitable to detect ATI-positive levels in the absence of IFX.
- EMQN best practice guidelines for genetic testing in dystrophinopathiesPublication . Fratter, Carl; Dalgleish, Raymond; Allen, Stephanie K.; Santos, Rosário; Abbs, Stephen; Tuffery-Giraud, Sylvie; Ferlini, AlessandraDystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been produced to update previous guidelines published in 2010.These guidelines summarise current recommended technologies and methodologies for analysis of the DMD gene, including testing for deletions and duplications of one or more exons, small variant detection and RNA analysis. Genetic testing strategies for diagnosis, carrier testing and prenatal diagnosis (including non-invasive prenatal diagnosis) are then outlined. Guidelines for sequence variant annotation and interpretation are provided, followed by recommendations for reporting results of all categories of testing. Finally, atypical findings (such as non-contiguous deletions and dual DMD variants), implications for personalised medicine and clinical trials and incidental findings (identification of DMD gene variants in patients where a clinical diagnosis of dystrophinopathy has not been considered or suspected) are discussed.
- Evaluation of Mortality During Long-Term Treatment with Tafamidis for Transthyretin Amyloidosis with Polyneuropathy: Clinical Trial Results up to 8.5 YearsPublication . Merlini, Giampaolo; Coelho, Teresa; Waddington Cruz, Márcia; Li, Huihua; Stewart, Michelle; Ebede, BenIntroduction: The effects of tafamidis on mortality in Val30Met and non-Val30Met patients with transthyretin amyloidosis with polyneuropathy (ATTR-PN) were evaluated. Methods: The analyses were based on cumulative data from the Val30Met patients in the 18-month double-blind registration study and its 12-month open-label extension study, the non-Val30Met patients of the 12-month open-label study, and both patient groups in the ongoing 10-year extension study. Kaplan-Meier analyses of time to death from first treatment dose were performed. For the Val30Met group, two treatment groups were analyzed: those who received tafamidis in both the parent and extension studies (T-T) and those who received placebo in the parent study and switched to tafamidis in the extension studies (P-T). Results: Kaplan-Meier estimates (95% confidence interval [CI]) were available up to 9 years for the Val30Met group, at which time 85.9% (53.1-96.4) and 91.1% (77.9-96.6) of the patients in the T-T and P-T groups, respectively, were alive. For the non-Val30Met group, estimates were available up to 8 years from the first dose, and the percentage of patients alive was 75.9% (47.7-90.2). Conclusion: Long-term tafamidis treatment may confer survival benefit in patients with ATTR-PN.
- Primary cutaneous adenoid cystic carcinoma of the abdomen: a rare entityPublication . Ferreira, Sandra; Conde Fernandes, Iolanda; Coelho, André; Selores, ManuelaAdenoid cystic carcinoma is a rare neoplasm that arises from secretory glands, most frequently from the salivary glands. Primary cutaneous adenoid cystic carcinoma is microscopically identical to adenoid cystic carcinoma developing at other tissues. Therefore, differentiating between a primary cutaneous adenoid cystic carcinoma and an extracutaneous adenoid cystic carcinoma with cutaneous metastases is pivotal to determine its prognosis and management. We describe a case of primary cutaneous adenoid cystic carcinoma on the abdomen that was successfully treated with wide excision
- Loss of Awareness after Continuous Apomorphine Infusion Withdrawal in Parkinson’s DiseasePublication . Oliveira, Vanessa; Videira, Gonçalo; Mendes, Alexandre