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Prevalence, risk factors and global impact of musculoskeletal injuries among endoscopists: a nationwide European study
Get PDFBackground and study aims Previous studies have suggested a high prevalence of musculoskeletal injuries (MI) in endoscopists. Little evidence has come from European countries. Our main aim was to evaluate the prevalence, type, and impact of MI among Portuguese endoscopists. We also sought to identify risk factors for the development, severity and number of endoscopy-related MI. Material and methods A 48-question electronic survey was developed by a multidisciplinary group. The electronic survey was sent to all members of Portuguese Society of Gastroenterology (n = 705) during May 2019. Study data were collected and managed using REDCap electronic data capture tools hosted at SPG - CEREGA. Results The survey was completed by 171 endoscopists (response rate of 24.3 %), 55.0 % female with a median age of 36 years (range 26-78). The prevalence of at least one MI related to endoscopy was 69.6 % (n = 119), the most frequent being neck pain (30.4 %) and thumb pain (29.2 %). The median time for MI development was 6 years (range 2 months-30 years). Severe pain was reported by 19.3 %. Change in endoscopic technique was undertaken by 61.3 % and reduction in endoscopic caseload was undertaken by 22.7 %. Missing work was reported by 10.1 %, with the median time off from work being 30 days (range 1-90). Female gender and ≥ 15 years in practice were independently associated with MI and severe pain. Years in practice, weekly-time performing endoscopy, and gender were significant predictors of the number of MI. Conclusions Prevalence of MI was significant among Portuguese endoscopists and had a relevant impact on regular and professional activities.info:eu-repo/semantics/publishedVersio
Innovative approach to a functional mediastinal paraganglioma with anomalous coronary supply: a case report
Get PDFBackground: Mediastinal paragangliomas (PGs) are rare and particularly challenging neuroendocrine tumours. Clinical presentation is heterogeneous and tumour resection can be challenging due to bleeding and the risk of catecholamine surges in functional tumours.
Case summary: A 36-year-old man with multiple cardiovascular risk factors was admitted with subacute heart failure. Investigations revealed a large non-metastatic functional mediastinal PG irrigated mainly by a left circumflex coronary anomalous feeder branch. The surgical risk was deemed very high due to patient comorbidities, tumour vascularization, and close relation to major thoracic structures. A multidisciplinary team decided to perform embolization of the anomalous coronary branch followed by peptide-receptor radionuclide therapy with 177-LuDOTATE aiming to decrease tumour size and perioperative risk. Follow-up studies showed a reduction in tumour vascularization, size, and hormonal production.
Discussion: The innovative strategy of combining embolization of the anomalous feeder branch with radionuclide therapy proved to be a promising approach.info:eu-repo/semantics/publishedVersio
Not All ENT Granulomas Are Wegener’s – Keep Tuberculosis in Mind
Get PDFMycobacterium tuberculosis affects the middle ear in rare cases and is a challenging diagnosis. In this case, we present a 57-year-old patient diagnosed with anti-neutrophil cytoplasmic antibody (ANCA)-negative granulomatosis with polyangiitis (GPA) following a biopsy result of nasal granulomas, who was immediately started on immunosuppressive treatment. Years later, she developed progressive hypoacusis. Magnetic resonance imaging (MRI) revealed an extensive mass in the tympanic cavity extending to the mastoid. A biopsy of the mass was positive for Mycobacterium tuberculosis. Immunosuppressants were weaned and the patient was started on anti-tuberculous therapy with resolution of the complaints and findings. Tuberculous infections are difficult to diagnose and frequently mimic other illnesses, but in our case, we believe that an indolent tuberculous process was present from the beginning and evolved under immunosuppressive therapy.
Learning points: The differential diagnosis of rhinosinus granulomatous findings includes inflammatory and infectious diseases (for example, tuberculous infections), in addition to neoplasms, cocaine abuse and trauma. A comprehensive differential diagnosis list is essential to mitigate diagnostic errors, especially in patients where auto-immune studies are negative or there is any doubt in the diagnosis. Latent tuberculosis screening should be a concern for physicians treating patients with immunosuppressive therapy, especially in endemic countries.info:eu-repo/semantics/publishedVersio
Caso clínico imagiológico
Get PDFmagnetic resonance imaging, myeloid sarcoma, radiographyinfo:eu-repo/semantics/publishedVersio
Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations
Get PDFThe polymorphic trinucleotide repetitive region in the FMR1 gene 5'UTR contains AGG interspersions, particularly in normal-sized alleles (CGG 200). The AGG interspersions have long been identified as one of the most important features of FMR1 repeat stability, being particularly important to determine expansion risk estimates in female premutation carriers. We sought to compute the combined AGG interspersion numbers and patterns, aiming to define FMR1 repetitive tract complexity combinations. A mathematical model, the first to compute this cumulative effect, was developed and validated using data from 131 young and healthy females. Plotting of their allelic complexity enabled the identification of two statistically distinct groups - equivalent and dissimilar allelic combinations. The outcome, a numerical parameter designated allelic score, depicts the repeat substructure of each allele, measuring the allelic complexity of the FMR1 gene including the AGGs burden, thus allowing new behavioral scrutiny of normal-sized alleles in females.This work was supported by national funds: FCT/MCTES (Fundação para a Ciência e a Tecnologia) – Project Reference SFRH/BD/136398/2018 to BR, UMIB (Unidade Multidisciplinar de Investigação Biomédica) – Reference UIDP/00215/2020 and UIDB/00215/2020, DEFI (Departamento de Ensino, Formação e Investigação) – Reference 2015-DEFI/145/12, and CESAM (Centro de Estudos do Ambiente e do Mar) – Reference UIDP/50017/2020 and UIDB/50017/2020.info:eu-repo/semantics/publishedVersio
Recomendações sobre a Abordagem da Esclerose Múltipla na Gravidez, Parto e Pós-Parto: Posição de Consenso do Grupo de Estudos de Esclerose Múltipla
Get PDFMultiple sclerosis typically affects young women of reproductive age. Therefore, all healthcare professionals involved in the follow-up of multiple sclerosis patients must be prepared to discuss pregnancy and breastfeeding issues and provide the best possible counselling. However, there are still many doubts and heterogeneous clinical approaches partly due to the lack of consensus and guidelines. Concerning the handling of disease modifying therapies during pregnancy and postpartum, existing uncertainties have been complicated by the increase in the number of treatments available in recent years. This article aims to present the state-of-the-art and provide guidance based on the best level of available evidence and expert opinion regarding the management of multiple sclerosis patients at different stages: pregnancy planning, pregnancy, partum, and the postpartum period.info:eu-repo/semantics/publishedVersio
Motor, cognitive and mobility deficits in 1000 geriatric patients: protocol of a quantitative observational study before and after routine clinical geriatric treatment - the ComOn-study
Get PDFBackground: Motor and cognitive deficits and consequently mobility problems are common in geriatric patients. The currently available methods for diagnosis and for the evaluation of treatment in this vulnerable cohort are limited. The aims of the ComOn (COgnitive and Motor interactions in the Older populatioN) study are (i) to define quantitative markers with clinical relevance for motor and cognitive deficits, (ii) to investigate the interaction between both motor and cognitive deficits and (iii) to assess health status as well as treatment outcome of 1000 geriatric inpatients in hospitals of Kiel (Germany), Brescia (Italy), Porto (Portugal), Curitiba (Brazil) and Bochum (Germany).
Methods: This is a prospective, explorative observational multi-center study. In addition to the comprehensive geriatric assessment, quantitative measures of reduced mobility and motor and cognitive deficits are performed before and after a two week's inpatient stay. Components of the assessment are mobile technology-based assessments of gait, balance and transfer performance, neuropsychological tests, frailty, sarcopenia, autonomic dysfunction and sensation, and questionnaires to assess behavioral deficits, activities of daily living, quality of life, fear of falling and dysphagia. Structural MRI and an unsupervised 24/7 home assessment of mobility are performed in a subgroup of participants. The study will also investigate the minimal clinically relevant change of the investigated parameters.
Discussion: This study will help form a better understanding of symptoms and their complex interactions and treatment effects in a large geriatric cohort.info:eu-repo/semantics/publishedVersio
Short and long-term clinical impact of transcatheter aortic valve implantation in Portugal according to different access routes: Data from the Portuguese National Registry of TAVI
Get PDFIntroduction: The Portuguese National Registry of Transcatheter Aortic Valve Implantation records prospectively the characteristics and outcomes of transcatheter aortic valve implantation (TAVI) procedures in Portugal.
Objectives: To assess the 30-day and one-year outcomes of TAVI procedures in Portugal.
Methods: We compared TAVI results according to the principal access used (transfemoral (TF) vs. non-transfemoral (non-TF)). Cumulative survival curves according to access route, other procedural and clinical variables were obtained. The Valve Academic Research Consortium-2 (VARC-2) composite endpoint of early (30-days) safety was assessed. VARC-2 predictors of 30-days and 1-year all-cause mortality were identified.
Results: Between January 2007 and December 2018, 2346 consecutive patients underwent TAVI (2242 native, 104 valve-in-valve; mean age 81±7 years, 53.2% female, EuroSCORE-II - EuroS-II, 4.3%). Device success was 90.1% and numerically lower for non-TF (87.0%). Thirty-day all-cause mortality was 4.8%, with the TF route rendering a lower mortality rate (4.3% vs. 10.1%, p=0.001) and higher safety endpoint (86.4% vs. 72.6%, p5% (p<0.001) and who underwent non-TF TAVI (p<0.001).
Conclusion: Data from our national real-world registry showed that TAVI was safe and effective. The use of a non-transfemoral approach demonstrated safety in the short term. Long-term prognosis was, however, adversely associated with this route, with comorbidities and the baseline clinical status.info:eu-repo/semantics/publishedVersio
Epilepsy in paediatric patients with Parry-Romberg syndrome: A review of the literature
Get PDFBackground: Parry-Romberg syndrome (PRS) is a rare disorder characterized by unilateral slow progressive facial atrophy that can be associated with neurologic manifestations, namely seizures. There is scarce data about seizures in paediatric patients with PRS. The aim of our work was to clarify the clinical features of paediatric patients with PRS and seizures.
Methods: We performed a literature review based on a literature search using PubMed and EMBASE databases. We included original articles in which the main diagnosis was PRS and the patients were 17 years old or less when the first seizure occurred.
Results: We included 40 patients. Most of the patients had previously normal development and had their first seizure in the first decade of life. Neurologic examination was abnormal in 56 % of patients. Seizures are typically focal, frequently with impaired awareness, and became refractory in about 40 % of patients. Few patients have generalized seizures. On electroencephalogram, epileptic discharges are generally focal, on the same side as the facial atrophy, without a predominant cerebral lobe localization. Brain MRI is almost always abnormal, typically with T2 subcortical hyperintensities, and sometimes brain atrophy or calcifications. In addition to the classic antiepileptic drugs, immunosuppressive drugs should be considered as potential epilepsy treatment.
Conclusion: To the best of our knowledge, this is the first review dedicated to the characteristics of paediatric patients with PRS and epilepsy. Seizures are usually focal, became refractory in 40 %, and have a significant impact on the quality of life and neurodevelopment of patients.info:eu-repo/semantics/publishedVersio