Centro Hospitalar do Porto
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Uma causa muito rara de espasmos infantis
Get PDFPsychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky hair disease diagnosis. The typical electroclinical evolution in this syndrome has rarely been previously reported.
A 22-month-old boy, born at 35 weeks, was admitted to the hospital by the age of two months due to epileptic seizures. Physical examination revealed dysmorphic facial features, pectus excavatum, and inguinal hernias. Antiepileptic drugs were initiated and one month later the patient was readmitted with recurrent epileptic seizures. Transfer to a hospital with Pediatric Neurology support was required, where light-toned and pleated skin, sparse hair, failure to thrive, and axial hypotonia were remarked. Initial investigation with general metabolic, neuroimaging, ophthalmological, and microarray study revealed no changes. Electroencephalograms were markedly abnormal, initially with focal changes and later with hypsarrhythmia. Considering the patient’s phenotype, copper serum level was analysed, with null value. Molecular study confirmed Menkes kinky hair disease and copper histidine therapy was initiated.
Menkes kinky hair disease should be considered in infants with global developmental delay, severe hypotonia, refractory epilepsy, and typical hair and skin changes occurring early in life. However, neonatal diagnosis is hampered by age-unspecific signs and symptoms. Despite being a rare and fatal entity, timely diagnosis allowing early therapy institution and avoiding unnecessary additional tests and prompt genetic counseling are of utmost importance.info:eu-repo/semantics/publishedVersio
Qual o papel da chupeta no risco de otite média aguda?
Get PDFIntroduction: Sucking reflex is acknowledged as a comforting mechanism for infants. When used for short periods of time, it is considered a healthy habit. Acute otitis media is one of the most frequent infections in pediatric age and has been associated with pacifier misuse.Objectives: To review available evidence regarding the association between pacifier use in the first years of life and otitis media risk.Methods: A literature search was conducted on several databases using MeSH terms “otitis” and “pacifiers” for guidelines, systematic reviews, randomized controlled trials, and observational studies over the last 20 years. SORT scale of the American Family Physician was used to evaluate evidence levels.Results: A total of 56 articles were retrieved, of which four guidelines, one systematic review, and one original article were selected. According to guidelines, there is no reason to discourage pacifier use, as it can be particularly beneficial in the first six months of life. Afterwards, pacifier use should be limited to moments of falling asleep. Its use should also be avoided in infants with chronic or recurrent otitis media. The systematic review stablished pacifier use as a risk factor for recurrent acute otitis media (RAOM) which is susceptible to intervention. In the observational study, a statistically significant association was found between pacifier use and RAOM risk.Conclusions: Pacifier use should not be actively discouraged in the first semester of life, as it can have beneficial effects for children (SORT A). Afterwards, its use should be discontinued due to increased otitis risk (SORT A).info:eu-repo/semantics/publishedVersio
Clinical-Decision Criteria to Identify Recurrent Diabetic Macular Edema Patients Suitable for Fluocinolone Acetonide Implant Therapy (ILUVIEN®) and Follow-Up Considerations/Recommendations
Get PDFCurrent management of diabetic macular edema (DME) predominantly involves treatment with short-acting intravitreal injections of anti-vascular endothelial growth factors (anti-VEGFs) and/or corticosteroids; however, short-acting therapies (lasting between 1 and 6 months) require frequent injections to maintain efficacy, meaning a considerable treatment burden for diabetic patients with multiple comorbidities. Continuous injections needed in some cases are an economic burden for patients/healthcare system, so real-life clinical practice tends to adopt a reactive approach, ie, watch and wait for worsening symptoms, which consequently increases the risk of undertreatment and edema recurrence. On March 7th 2019, a group of experts in retinal medicine and surgery held a roundtable meeting in Madrid, Spain to discuss how to (1) optimize clinical outcomes through earlier use of fluocinolone acetonide (FAc) implant (ILUVIEN®) in patients with persistent or recurrent DME despite therapy; and, (2) to provide guidance to assist physicians in deciding which patients should be treated with ILUVIEN. In this regard, a 36-month follow-up consensus protocol is presented. In conclusion, patients that achieve a complete or partial anatomical, and preferably functional, response following one or two intravitreal dexamethasone implants, but with recurrence of edema after 3-4 months, are deemed by the authors most likely to benefit from ILUVIEN, and the switch to FAc implant should not be delayed more than 12 months after the initiation of at least the first dexamethasone implant.info:eu-repo/semantics/publishedVersio
The endocannabinoid 2-arachidonoylglycerol promotes endoplasmic reticulum stress in placental cells
Get PDFProliferation, differentiation and apoptosis of trophoblast cells are required for normal placental development. Impairment of those processes may lead to pregnancy-related diseases. Disruption of endoplasmic reticulum (ER) homeostasis has been associated with several reproductive pathologies including recurrent pregnancy loss and preeclampsia. In the unfolded protein response (UPR), specific ER-stress signalling pathways are activated to restore ER homeostasis, but if the adaptive response fails, apoptosis is triggered. Protein kinase RNA-like endoplasmic reticulum kinase (PERK), inositol-requiring enzyme 1 (IRE1) and Activating transcription factor 6 (ATF6) are central players in UPR and in ER-stress-induced apoptosis, as well as downstream transcription factors, as C/EBP homologous protein (CHOP). Our previous studies have shown that the endocannabinoid 2-arachidonoylglycerol (2-AG) modulates trophoblast cell turnover. Nevertheless, the role of ER-stress on 2-AG induced apoptosis and cannabinoid signalling in trophoblast has never been addressed. In this work, we used BeWo cells and human primary cytotrophoblasts isolated from term-placenta. The expression of ER-stress markers was analysed by qRT-PCR and Western blotting. ROS generation was assessed by fluorometric methods, while apoptosis was detected by the evaluation of caspase -3/-7 activities and Poly (ADP-ribose) polymerase (PARP) cleavage. Our findings indicate that 2-AG is able to induce ER-stress and apoptosis. Moreover, the eukaryotic initiation factor 2 (eIF2α)/CHOP pathway involved in ER-stress-induced apoptosis is triggered through a mechanism dependent on cannabinoid receptor CB2 activation. The results bring novel insights on the importance of ER-stress and cannabinoid signalling on 2-AG mechanisms of action in placenta.info:eu-repo/semantics/publishedVersio
Teria a Cistatina C um papel como substituto metabólico na diálise peritoneal além de sua associação com a função renal residual?
Get PDFIntroduction: It has been suggested that cystatin C levels are modified by obesity and inflammation. Furthermore, cystatin C has been associated with cardiovascular events and mortality outcomes.
Aim: To study the association of cystatin C with the metabolic profile and cardiovascular disease of peritoneal dialysis patients.
Methods: Data collected included clinical, laboratorial, and multifrequency bioimpedance assessment of 52 stable peritoneal dialysis patients. Minimal residual renal function was defined as > 2mL/min/1.73m2.
Results: Serum cystatin C was not significantly associated with peritoneal or urinary cystatin C excretion. Negative correlation of cystatin C with normalized protein catabolic rate (rho -0.33, p = 0.02) and a trend towards positive correlation with relative body fat (rho 0.27, p = 0.05) were not independent from residual renal function. Cystatin C was not significantly associated with cardiovascular disease (p = 0.28), nor with glycated hemoglobin (p = 0.19) or c-reactive protein (p = 0.56). In the multivariate model, both age and diabetes were the strongest predictors of cardiovascular disease (odds ratio 1.09, p = 0.029 and odds ratio 29.95, p = 0.016, respectively), while relative body fat was negatively associated with cardiovascular disease (p = 0.038); neither cystatin C (p = 0.096) nor minimal residual renal function (p = 0.756) reached a significant association with cardiovascular disease.
Conclusions: In this group of peritoneal dialysis patients, cystatin C did not correlate with the metabolic or inflammatory status, nor cardiovascular disease, after adjustment for residual renal function.Introdução:: Tem sido sugerido que os níveis de cistatina C são modificados pela obesidade e inflamação. Além disso, a cistatina C tem sido associada a eventos cardiovasculares e desfechos de mortalidade.
Objetivo:: Estudar a associação da cistatina C com o perfil metabólico e doença cardiovascular de pacientes em diálise peritoneal.
Métodos:: Os dados coletados incluíram avaliação clínica, laboratorial e de bioimpedância múltipla de 52 pacientes estáveis em diálise peritoneal. A função renal residual mínima foi definida como > 2mL/min/1,73m2.
Resultados:: A cistatina C sérica não esteve significativamente associada à excreção peritoneal ou urinária. A correlação negativa da cistatina C com a taxa catabólica protéica normalizada (rho -0,33, p = 0,02) e uma tendência de correlação positiva com a gordura corporal relativa (rho 0,27, p = 0,05) não foram independentes da função renal residual. A cistatina C não se associou significativamente à doença cardiovascular (p = 0,28), nem com hemoglobina glicada (p = 0,19) ou proteína C reativa (p = 0,56). No modelo multivariado, idade e diabetes foram os mais fortes preditores de doença cardiovascular (razões de probabilidade 1,09, p = 0,029 e 29,95, p = 0,016, respectivamente) enquanto a gordura corporal relativa se associou negativamente à doença cardiovascular (p = 0,038). A cistatina C não se associou significativamente com doença cardiovascular (p = 0,096), tampouco a função residual mínima (p = 0,756).
Conclusão:: Neste grupo de pacientes em diálise peritoneal, a cistatina C não se correlacionou com o estado metabólico ou inflamatório, nem com doença cardiovascular, após ajuste para função renal residual.info:eu-repo/semantics/publishedVersio
Consenso Português sobre o Diagnóstico, Tratamento e Abordagem da Anemia na Doença Inflamatória Intestinal Pediátrica
Get PDFAnemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD), both in pediatric and in adult patients. Iron deficiency is the main cause of anemia in patients with IBD. Anemia is a clinically relevant comorbidity, with impact on patients' quality of life and it should be timely diagnosed and adequately treated. Currently, an active treatment approach is the recommended strategy, with evidence showing efficacy and safety of intravenous iron formulations. However, evidence in pediatric age remains scarce and no clinical recommendations exist for the diagnosis and treatment of this particular age group. The present document represents the first national consensus on the management of anemia in pediatric IBD and is therefore particularly relevant. The authors anticipate that the proposed recommendations will be useful in daily clinical practice for diagnosing and managing iron deficiency and iron-deficiency anemia in the pediatric population with IBD.A anemia é uma manifestação extra-digestiva frequente associada à doença inflamatória intestinal, tanto na população pediátrica como adulta, sendo a anemia por défice de ferro a sua forma mais frequente. Constitui uma comorbilidade clinicamente relevante, com repercussão na qualidade de vida. Deve ser atempadamente diagnosticada e adequadamente tratada. A estratégia terapêutica atualmente aceite preconiza uma atitude interventiva. Neste contexto, a evidência científica atual tem demonstrado a eficácia e segurança da utilização das formulações de ferro endovenoso. Contudo, em idade pediátrica a evidência ainda é insuficiente, não existindo orientações de abordagem diagnóstica ou terapêutica especificamente dirigidas a este grupo etário. Este é o primeiro consenso nacional sobre a abordagem da anemia na doença inflamatória intestinal pediátrica, revestindo-se por isso de particular relevância. Pretendese que este documento tenha utilidade e aplicabilidade na prática clínica na avaliação e seguimento do défice de ferinfo:eu-repo/semantics/publishedVersio
Effects of a nursing care program focused on basic self-care in older acute medical in-patients: a randomized controlled trial
Get PDFBackground: Acute illness and hospitalization are often associated with decreased independence in basic activities of daily living. The aim of this study was to test the hypothesis that a nursing care program focused on basic self-care (N_BSC) improves functional outcomes in older patients admitted to an acute medical unit.
Methods: This was a 2-group randomized controlled trial with repeated measures: 182 older patients admitted to an acute medical unit were randomly allocated to the usual care group (n = 91) and intervention group (n = 91). The intervention consisted of nursing care centered on basic self-care that includes promotion of daily walking and all daytime meals seated, out of bed. The main outcome was changes in the number of independent basic activities of daily living (BADL) from 2 weeks before admission (baseline) to discharge.
Results: There was significant effect of the N_BSC on the outcomes. Changes from baseline to discharge in the number of independent BADL differ significantly between the intervention and usual care group. Intervention group patients were discharged with a superior functional status than usual care group. On discharge they were able to perform independently 2.93 BADL, whereas usual care patients performed independently 1.90 BADL (P < .001).
Conclusions: N_BSC for hospitalized older adults was feasible and program participants were discharged with better functional status than a clinically similar comparison group. N_BSC could be readily adapted for use in other hospitals and warrants further evaluation as a potential new tool for improving outcomes for hospitalized older patients.info:eu-repo/semantics/publishedVersio
Recommendations for interventional pulmonology during COVID-19 outbreak: a consensus statement from the Portuguese Pulmonology Society
No full textCoronavirus disease 2019 (COVID-19) is an emerging infectious disease caused by a novel SARS-CoV-2 pathogen. Its capacity for human-to-human transmission through respiratory droplets, coupled with a high-level of population mobility, has resulted in a rapid dissemination worldwide. Healthcare workers have been particularly exposed to the risk of infection and represent a significant proportion of COVID-19 cases in the worst affected regions of Europe. Like other open airway procedures or aerosol-generating procedures, bronchoscopy poses a significant risk of spreading contaminated droplets, and medical workers must adapt the procedures to ensure safety of both patients and staff. Several recommendation documents were published at the beginning of the pandemic, but as the situation evolves, our thoughts should not only focus on the present, but should also reflect on how we are going to deal with the presence of the virus in the community until there is a vaccine or specific treatment available. It is in this sense that this document aims to guide interventional pulmonology throughout this period, providing a set of recommendations on how to perform bronchoscopy or pleural procedures safely and efficiently.info:eu-repo/semantics/publishedVersio
Isolated traumatic posterior dislocation of the radial head in an adult, a rare injury: New case report
Get PDFIsolated radial head dislocations are rare in adults with only 23 cases published in 45 years. The diagnosis may be easily missed on radiographs and a CT-scan is often required. If managed promptly patient can restore normal range of motion and elbow function. Authors report a new case of a 67-year-old female presenting a posttraumatic isolated posterior dislocation of the radial head. Treatment consisted of closed reduction followed by immobilization for four weeks in a plaster cast with the elbow flexed at 90°, followed by active mobilization and physiotherapy. At 18 months of follow-up, functional outcome is excellent with no differences between both sides.info:eu-repo/semantics/publishedVersio
Burden of Community-Acquired Pneumonia and Unmet Clinical Needs
Get PDFCommunity-acquired pneumonia (CAP) is the leading cause of death among infectious diseases and an important health problem, having considerable implications for healthcare systems worldwide. Despite important advances in prevention through vaccines, new rapid diagnostic tests and antibiotics, CAP management still has significant drawbacks. Mortality remains very high in severely ill patients presenting with respiratory failure or shock but is also high in the elderly. Even after a CAP episode, higher risk of death remains during a long period, a risk mainly driven by inflammation and patient-related co-morbidities. CAP microbiology has been altered by new molecular diagnostic tests that have turned viruses into the most identified pathogens, notwithstanding uncertainties about the specific role of each virus in CAP pathogenesis. Pneumococcal vaccines also impacted CAP etiology and thus had changed Streptococcus pneumoniae circulating serotypes. Pathogens from specific regions should also be kept in mind when treating CAP. New antibiotics for CAP treatment were not tested in severely ill patients and focused on multidrug-resistant pathogens that are unrelated to CAP, limiting their general use and indications for intensive care unit (ICU) patients. Similarly, CAP management could be personalized through the use of adjunctive therapies that showed outcome improvements in particular patient groups. Although pneumococcal vaccination was only convincingly shown to reduce invasive pneumococcal disease, with a less significant effect in pneumococcal CAP, it remains the best therapeutic intervention to prevent bacterial CAP. Further research in CAP is needed to reduce its population impact and improve individual outcomes.info:eu-repo/semantics/publishedVersio