Browsing by Issue Date, starting with "2021-07"
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- Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case reportPublication . Damásio, Joana; Sardoeira, Ana; Araújo, Maria; Carvalho, Isabel; Sequeiros, Jorge; Barros, JoséBackground: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. Case report: We describe a patient, homozygous for a 873 GAA expansion in the FXN gene, whose first symptoms appeared by the age of 8. At 22 years-old he developed sensorineural deafness, and at 26 visual impairment. Deafness had a progressive course over 11 years, until a stage of extreme severity which hindered communication. Visual acuity had a catastrophic deterioration, with blindness 3 years after visual impairment was first noticed. Audiograms documented progressive sensorineural deafness, most striking for low frequencies. Visual evoked potentials disclosed bilaterally increased P100 latency. He passed away at the age of 41 years old, at a stage of extreme disability, blind and deaf, in addition to the complete phenotype of a patient with Friedreich ataxia of more than 30 years duration. Discussion: Severe vision loss and extreme deafness has been described in very few patients with Friedreich ataxia. Long duration, severe disease and large expanded alleles may account for such an extreme phenotype; nonetheless, the role of factors as modifying genes warrants further investigation in this subset of patients.
- Pretreatment Blood Markers in the Prediction of Occult Neck Metastasis: A 10-Year Retrospective StudyPublication . Ventura, Eduardo; Barros, João; Salgado, Inês; Millán, Ana; Vilares, Miguel; Zagalo, Carlos; Gomes, PedroIntroduction The purpose of this study was to clarify the role of inflammatory blood markers in the management of early-stage (T1-T2) oral squamous cell carcinoma (OSCC) of the tongue in patients with a clinically negative neck. Materials and methods We undertook a retrospective chart review of 102 patients with early-stage OSCC of the tongue, subjected to tumor resection and elective neck dissection. Based on postsurgical histopathological examination results, we divided our cohort into pN+ and pN0 groups. Afterwards, we analyzed the role of pretreatment inflammatory blood markers in predicting occult neck metastasis. We also evaluated neutrophil-lymphocyte ratio (NLR) association with the depth of invasion (DOI) of the primary tumor. Results We found a significant association of NLR (p=0.001) and monocyte-lymphocyte ratio (p=0.011) with neck status on univariate analysis. Multivariate analysis showed that only NLR (p=0.02) was an independent risk factor for occult metastasis among inflammatory blood markers. Receiver Operating Characteristic curve analysis and Younden's Index determined the NLR value of 2.96 as the most adequate cut-off value for neck status prediction. NLR values of pretreatment workup also had a significant association with the DOI of the primary tumor (p=0.018). Conclusion Our study supports the role of pretreatment NLR in predicting occult neck metastasis in early-stage OSCC of the tongue. It also sheds some light over the potential of NLR as a predictor of the primary tumor's DOI.
- Guidelines for the Management of Center-Involving Diabetic Macular Edema: Treatment Options and Patient MonitorizationPublication . Figueira, João; Henriques, José; Carneiro, Ângela; Marques-Neves, Carlos; Flores, Rita; Castro-Sousa, João Paulo; Meireles, Angelina; Gomes, Nuno; Nascimento, João; Amaro, Miguel; Silva, RufinoDiabetic macular edema (DME) is the main cause of visual impairment associated with diabetic retinopathy (DR) and macular laser, during approximately three decades, and was the single treatment option. More recently, intravitreous injections of anti-angiogenics and corticosteroids modified the treatment paradigm associated with significant vision improvements. Nevertheless, not all patients respond satisfactorily to anti-VEGF or corticosteroid injections, so an adequate treatment choice and a prompt switch in therapeutic class is recommended. Several algorithms and guidelines have been proposed for treating center involving DME to improve patients' vision and quality of life. However, in Portugal, such guidelines are lacking. The present review aimed to provide guidelines for the treatment options and patient monitorization in the management of center-involving DME. We recommend anti-vascular endothelial growth factor (VEGF) as first-line therapy after a clinical evaluation accompanied by a rigorous metabolic control. Depending on the response obtained after 3-6 monthly intravitreal injections we suggest switching outside the class in case of a non-responder, maintaining the anti-VEGF-therapy in responders to anti-angiogenics. The treatment regimen for Dexamethasone intravitreal implant (DEXii) should be pro-re-nata with bi-monthly or quarterly monitoring visits (with a scheduled visit at 6-8 weeks after DEXii for intraocular pressure control). If a patient does not respond to DEXii, switch again to anti-VEGF therapy, combine therapies, or re-evaluate patients diagnose. There is a resilient need to understand the disease, its treatments, regimens available, and convenience for all involved to propose an adequate algorithm for the treatment of diabetic retinopathy (DR) and DME in an individualized regimen. Further understanding of the contributing factors to the development and progression of DR should bring new drug discoveries for more effective and better-tolerated treatments.
- Predictors for incomplete response to ursodeoxycholic acid in primary biliary cholangitis. Data from a national registry of liver diseasePublication . Cortez‐Pinto, Helena; Liberal, Rodrigo; Lopes, Susana; Machado, Mariana V.; Carvalho, Joana; Dias, Teresa; Santos, Arsénio; Agostinho, Cláudia; Figueiredo, Pedro; Loureiro, Rafaela; Martins, Alexandra; Alexandrino, Gonçalo; Cotrim, Isabel; Leal, Carina; Presa, José; Mesquita, Mónica; Nunes, Joana; Gouveia, Catarina; Vale, Ana Horta e; Alves, Ana Luísa; Coelho, Mariana; Maia, Luís; Pedroto, Isabel; Banhudo, António; Pinto, João Sebastião; Gomes, Marta Vargas; Oliveira, Joana; Andreozzi, Valeska; Calinas, Filipe; on behalf of Liver.pt, nullBackground: The current standard of treatment in primary biliary cholangitis (PBC) is ursodeoxycholic acid (UDCA), although a considerable proportion of patients show incomplete response resulting in disease progression. Objective: This study aimed to assess the prevalence of incomplete response to UDCA and determine associated patients' characteristics. Methods: Patients with PBC as main diagnosis were included from a national multicentric patient registry-Liver.pt. Main endpoints included incomplete response to UDCA treatment according to Barcelona, Paris I and Paris II criteria, Globe and UK PBC scores and the association between baseline characteristics and incomplete response according to Paris II criteria. Results: A total of 434 PBC patients were identified, with a mean age of 55 years and 89.2% females. Nearly half of patients were asymptomatic at diagnosis and 93.2% had positive anti-mitochondrial antibodies. Almost all patients (95.6%) had been prescribed at least one drug for PBC treatment. At the last follow-up visit, 93.3% were under treatment of which 99.8% received UDCA. Incomplete response to UDCA was observed in 30.7%, 35.3%, 53.7% and 36.4% of patients according to Barcelona, Paris I, Paris II criteria and Globe score, respectively. After adjusting for age and sex, and accordingly to Paris II criteria, the risk for incomplete biochemical response was 25% higher for patients with cirrhosis at diagnosis (odds ratio [OR] = 1.25; 95% confidence interval [95%CI]: 1.02-1.54; p = 0.033) and 35% (95%CI:1.06-1.72; p = 0.016) and 5% (OR = 1.05; 95%CI:1.01-1.10; p = 0.013) for those with elevated gamma-glutamyl transferase (GGT) and alkaline phosphatase (ALP). Conclusion: A considerable proportion of patients showed incomplete biochemical response to UDCA treatment according to Paris II criteria. Cirrhosis, elevated GGT and ALP at diagnosis were identified as associated risk factors for incomplete response. Early identification of patients at risk of incomplete response could improve treatment care and guide clinical decision to a more careful patient monitorization.