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Challenging Clinical Cases – A Walk Through Supplemental Therapy with Intravitreal Ranibizumab Therapy Following Treatment of Diabetic Macular Edema with the 0.19 mg Fluocinolone Acetonide Implant (ILUVIEN®)
Get PDFPurpose: There are limited published data regarding the use of supplemental intravitreal therapies in patients with diabetic macular edema (DME) following treatment with the 0.19 mg fluocinolone acetonide (FAc; ILUVIEN®) intravitreal implant. The aim of this report was to analyze five challenging eyes that required supplemental therapies after treatment with the FAc implant.
Methods: This is a retrospective case series conducted at the Centro Hospitalar Universitário do Porto in Porto, Portugal, between 2015 and 2019. It aimed to assess the patient background, treatment history and patient outcomes in challenging clinical cases in which intravitreal injections (IVI) of ranibizumab had been given pro re nata following treatment with the FAc implant (with a minimum follow-up of 33 months). Parameters measured included best-corrected visual acuity in early treatment diabetic retinopathy scale, central macular thickness and intraocular pressure.
Patients: Five eyes (three patients) diagnosed with persistent or recurrent DME and suitable for treatment with the FAc implant according to its licensed indication in Europe.
Results: In the first 2 patients, one bilateral, DME was refractory to IVI of short-acting corticosteroids and anti-VEGF. Following FAc therapy, there was a favorable evolution and a clear regression of diabetic retinopathy (DR) severity. Supplemental treatments were adopted, but a reduced number of treatments were needed beyond three years in these cases. The third case had bilateral DME. One eye had been vitrectomized and FAc therapy led to resolution of DME within 6 months. In the contralateral eye, the control of DME was dependent on anti-VEGF supplemental treatments until a pars plana vitrectomy was performed.
Conclusion: The multifactorial nature of DME means there is a need for an individualized treatment approach to the management of DME. It also explains why some patients need a combined or a more aggressive approach to therapy in order to achieve successful outcomes for the patient.info:eu-repo/semantics/publishedVersio
Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome
Get PDFMesenchymal chondrosarcoma (MCS) is a rare histological variant of chondrosarcoma, with aggressive behaviour. Due to the unique nature of this disease, management strategies are not well established. Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome with a wide tumour spectrum, associated with TP53 germline mutations. We report a case of MCS of the maxilla, treated with surgical excision and adjuvant chemotherapy, in a patient with a past medical history of choroid plexus papilloma and a family history of early age first-degree cervical uterine cancer, that led to the clinical suspicion of a cancer predisposition syndrome and the subsequent diagnosis of LFS. This is the first MCS described in a LFS case. It demonstrates that adjuvant chemotherapy should be considered, in conjunction with surgical excision, in MCS and that cancer predisposition syndromes should be suspected in patients with multiple neoplasms and a strong family history of cancer.info:eu-repo/semantics/publishedVersio
From the Post-Gutenberg Galaxy to the era of Skywriting
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Violência no namoro - conhecimentos e atitudes dos adolescentes e avaliação da efetividade de uma intervenção breve em alunos do ensino secundário
Get PDFTeen’s inexperience and willingness to please others make them especially susceptible to violent behavior in relationships, which they accept as natural and as displays of affection.
The present study determined the prevalence of dating violence (DV) in a sample of adolescents from a high school in the northern region of Portugal and their knowledge and attitudes about DV, as well as the effectiveness of a brief intervention to empower adolescents to deal with DV.
This longitudinal, interventional study randomly selected adolescents from a high school and divided them into six groups. Three were subject to an intervention focusing DV. Conflict in Adolescent Dating Relationships Inventory (CADRI) and Attitudes Toward Dating Violence (ADV) surveys were filled out prior to the intervention. ADV survey was repeated by the intervention group after the intervention.
A total of 138 adolescents from regular and professional education were included. Of these, 75.5% resorted to abusive conflict resolution strategies, 33% to severe violence, and 40.6% were victims of severe violence. Males revealed higher emotional, physical, and sexual violence legitimization perpetrated by both genders. Sixty-nine adolescents participated in the intervention, with girls showing a non-significant decrease in sexual violence legitimacy perpetrated by females and boys showing a non-significant decrease in emotional violence legitimacy perpetrated by males.
A high percentage of adolescents used abusive conflict resolution and severe violence strategies. Despite adolescents active participation during the intervention, its impact in decreasing legitimization of DV was lower than expected.info:eu-repo/semantics/publishedVersio
Prevenção de abusos sexuais em idade pré-escolar - conhecimentos e atitudes dos educadores
Get PDFIntroduction: Child sexual abuse (CSA) is a global public health problem across different culture and socioeconomic strata. Teachers have a privileged role in prevention programs and the approach is feasible and effective in preschoolers. The aim of this study was to characterize preschool teachers’ knowledge, attitudes, and training about CSA prevention.
Methods: A non-experimental, exploratory, cross-sectional study was conducted in Leiria, Portugal, comprising 47 preschool teachers. Data was retrieved through a questionnaire developed by study authors.
Results: Most preschool teachers had no CSA prevention training. About half of inquired teachers considered their knowledge about CSA prevention as reasonable. However, 12.8% classified it as poor, mainly teachers with less practice years (50% vs 69.6% of teachers with ≥30 practice years who classified their knowledge as reasonable, p=0.03). Most participants agreed that CSA prevention should be part of preschool curriculum, particularly older teachers (92% vs 77%, p=0.03). Most respondents considered adjusting these concepts to preschoolers challenging for implementation of prevention programs, 72.4% considered that some topics were not suitable for discussion with preschool children, and 82.9% considered that their approach was not well accepted by parents or caregivers.
Discussion: Study results evidenced several difficulties and limited training of preschool teachers in CSA prevention. Encouragingly, most teachers showed a positive attitude towards participating in CSA training education and including this topic in preschool curriculum. This study emphasizes the importance of teachers’ education in this subject through implementation of training programs.info:eu-repo/semantics/publishedVersio
Caso clínico dermatológico
Get PDFCongenital cutaneous candidiasis is a rare disease acquired in utero via ascending Candida infection. Skin involvement is diffuse and often appears in the first six days of life. Diagnosis can be confirmed by microscopic examination and cutaneous lesion culture. Empiric therapy with systemic antifungal should be promptly started at the time of cutaneous manifestations, specially in preterm infants, to prevent dissemination and decrease mortality risk.info:eu-repo/semantics/publishedVersio
A Narrative Review of the Role of Transthyretin in Health and Disease
Get PDFTransthyretin (TTR) is a tetrameric transport protein highly conserved through vertebrate evolution and synthesized in the liver, choroid plexus, and retinal pigment epithelium. TTR transports the thyroid hormone thyroxine and the retinol-binding protein (RBP) bound to retinol (vitamin A). Mutations in TTR are associated with inherited transthyretin amyloidosis (ATTRv), a progressive, debilitating disease that is ultimately fatal and is characterized by misfolding of TTR and aggregation as amyloid fibrils, predominantly leading to cardiomyopathy or polyneuropathy depending on the particular TTR mutation. Transthyretin amyloid cardiomyopathy can also occur as an age-related disease caused by misfolding of wild-type TTR. Apart from its transport role, little is known about possible additional physiological functions of TTR. Evidence from animal model systems in which TTR has been disrupted via gene knockout is adding to our cumulative understanding of TTR function. There is growing evidence that TTR may have a role in neuroprotection and promotion of neurite outgrowth in response to injury. Here, we review the literature describing potential roles of TTR in neurobiology and in the pathophysiology of diseases other than ATTR amyloidosis. A greater understanding of these processes may also contribute to further clarification of the pathology of ATTR and the effects of potential therapies for TTR-related conditions.info:eu-repo/semantics/publishedVersio
Hypersensitivity pneumonitis: Main features characterization in a Portuguese cohort
Get PDFHypersensitivity pneumonitis (HP) is an interstitial lung disease (ILD) which varies in prevalence across the world, depending on disease definition, diagnostic methods, exposure type and intensity, geographical environments, agricultural and industrial practices, and host risk factors. This study aimed to deepen knowledge about HP's clinical characteristics, diagnosis and functional and imaging features in a cohort of HP patients from the North of Portugal. To achieve this goal, a retrospective assessment of the clinical and diagnostic data was carried out, and patients were classified and compared according to disease presentation (acute, sub-acute and chronic HP forms). Of the 209 HP patients included (mean age 58.3 ± 16.0 years), 52.6% were female and 73.7% presented a chronic form. Most patients had prior exposure to birds (76.6%). Dyspnoea and cough were the most frequently experienced symptoms, but no statistically significant differences were found between groups (p = 0.089, p = 0.418, respectively). Fever was most common in acute HP form (p < 0.001). The most common patterns found in Chest CT were ground glass (p = 0.002) in acute/subacute presentation, and reticulation (p < 0.001) in chronic form, while mosaic attenuation, although was also frequently observed, no statistically significant differences were found between groups (p = 0.512). The most common functional pattern was restrictive (38% of patients, 73.7% with chronic HP form). Bronchoalveolar lavage lymphocytes were higher in acute and subacute forms although not reaching statistical significance (p = 0.072), with lowest CD4/CD8 ratio (p = 0.001) in acute forms. Thus, given the significant disease heterogeneity, further studies with different populations and ambient exposures are needed to achieve a better stratification of the exposure risk, to provide proper implementation of avoidance methods and a precise diagnostic and therapeutic approach.info:eu-repo/semantics/publishedVersio
Tirosinemia tipo III: descrição de caso clínico em irmãos e revisão da literatura
Get PDFObjective: Tyrosinemia type III (HT III) is the rarest form of tyrosinemia, and the full clinical spectrum of this disorder is still unknown. The neurological involvement varies, including intellectual impairment and attention deficit disorder with hyperactivity (ADHD). We report the case of two siblings diagnosed with HT III at different ages.
Case description: The index case was diagnosed by newborn screening for endocrine and metabolic disorders, starting a low-protein diet immediately, with a consistent decrease in tyrosine levels. By the age of three, the child displayed a hyperactive behavior, starting treatment for ADHD two years later. At seven years of age, he shows a slight improvement in terms of behavior and attention span and has a cognitive performance slightly lower than his peers, despite maintaining acceptable tyrosine levels. His sister, who had a history of ADHD since age five, was diagnosed with HT III after family screening at the age of eight. Despite initiating a dietetic treatment, her behavior did not improve, and she has a mild intellectual impairment.
Comments: This is the first case report describing siblings with HT III who underwent nutritional treatment with a low-protein diet in different phases of life, with a better neurological and behavioral evaluation in the patient who started treatment earlier.Objetivo:: A tirosinemia tipo III (TT III) é a forma mais rara das tirosinemias e o espectro clínico desta entidade não está totalmente esclarecido. O envolvimento neurológico é variável, incluindo o atraso cognitivo ou transtorno do déficit de atenção com hiperatividade (TDAH). Descrevemos o caso de dois irmãos que foram diagnosticados com TT III em idades diferentes.
Descrição dos casos:: O caso índice foi diagnosticado no contexto do rastreio endócrino-metabólico neonatal, tendo iniciado imediatamente dieta hipoproteica, com redução consistente dos níveis de tirosina. Por volta dos três anos, foi detectado um comportamento hiperativo, tendo iniciado dois anos depois tratamento para o TDAH. Aos sete anos, apresenta leve melhora de comportamento e da atenção e avaliação cognitiva levemente inferior ou pouco abaixo quando comparado a crianças da mesma faixa etária, apesar de manter níveis aceitáveis de tirosina. A sua irmã, com história de TDAH desde os cinco anos, foi diagnosticada de TT III aos oito anos no contexto do rastreio de familiares. Apesar de iniciar tratamento dietético, nenhum efeito foi notado em termos de comportamento e a doente apresenta leve atraso cognitivo.
Comentários: Este é o primeiro caso clínico descrito de irmãos com TT III que iniciaram terapêutica dietética com dieta hipoproteica em diferentes fases da vida, com melhor avaliação em termos neurológicos e comportamentais no doente que iniciou tratamento mais precocemente.info:eu-repo/semantics/publishedVersio
Psychosocial risk factors for impaired health-related quality of life in living kidney donors: results from the ELIPSY prospective study
Get PDFLiving kidney donors' follow-up is usually focused on the assessment of the surgical and medical outcomes. Whilst the psychosocial follow-up is advocated in literature. It is still not entirely clear which exact psychosocial factors are related to a poor psychosocial outcome of donors. The aim of our study is to prospectively assess the donors' psychosocial risks factors to impaired health-related quality of life at 1-year post-donation and link their psychosocial profile before donation with their respective outcomes. The influence of the recipient's medical outcomes on their donor's psychosocial outcome was also examined. Sixty donors completed a battery of standardized psychometric instruments (quality of life, mental health, coping strategies, personality, socio-economic status), and ad hoc items regarding the donation process (e.g., motivations for donation, decision-making, risk assessment, and donor-recipient relationship). Donors' 1-year psychosocial follow-up was favorable and comparable with the general population. So far, cluster-analysis identified a subgroup of donors (28%) with a post-donation reduction of their health-related quality of life. This subgroup expressed comparatively to the rest, the need for more pre-donation information regarding surgery risks, and elevated fear of losing the recipient and commitment to stop their suffering.info:eu-repo/semantics/publishedVersio