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- Portuguese consensus document for the management of alpha-1-antitrypsin deficiencyPublication . Lopes, A.; Mineiro, M.; Costa, F.; Gomes, J.; Santos, C.; Antunes, C.; Maia, D.; Melo, R.; Canotilho, M.; Magalhães, E.; Vicente, I.; Valente, C.; Gonçalves, B.; Conde, B.; Guimarães, C.; Sousa, C.; Amado, J.; Brandão, M.; Sucena, M.; Oliveira, M.; Seixas, S.; Teixeira, V.; Telo, L.Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.
- Laser flare photometry: a cost-effective method for early detection of endophthalmitis after intravitreal injection of anti-VEGF agentsPublication . Lages, V.; Gehrig, B.; Herbort, C.Intravitreal injection of anti-vascular endothelial growth factor agents is the most common intraocular procedure worldwide, inevitably causing more cases of post-injection endophthalmitis. The purpose of this study was to evaluate the utility of laser flare photometry in monitoring inflammation after intravitreal injection of anti-vascular endothelial growth factor agents, particularly to detect early stage post-injection endophthalmitis. A retrospective case review was performed of all patients who underwent flare assessment by laser flare photometry before and after intravitreal injection of bevacizumab or aflibercept at the Centre for Ophthalmic Specialized Care in Lausanne, Switzerland, between January 2015 and May 2018. The following data were retrieved: indication for intravitreal injection, medication administered, pre-injection and 72-h post-injection laser flare photometry values, and occurrence of post-injection endophthalmitis. A total of 736 injections were included in this study; 705 cases (95.8%) had a post-injection flare at 72 h ≤ 30 ph/ms, 29 cases (3.9%) had a post-injection flare at 72 h between > 30 and 50 ph/ms, and 2 cases (0.3%) had a post-injection flare at 72 h above > 50 ph/ms (664 and 742 ph/ms). These latter two cases were diagnosed as early-stage endophthalmitis.
- Atypical pathogens in hospitalized patients with community-acquired pneumonia: a worldwide perspectivePublication . Gramegna, A.; Sotgiu, G.; Di Pasquale, M.; Radovanovic, D.; Terraneo, S.; Reyes, L.; Vendrell, E.; Neves, J.; Menzella, F.; Blasi, F.; Aliberti, S.; Restrepo, M.BACKGROUND: Empirical antibiotic coverage for atypical pathogens in community-acquired pneumonia (CAP) has long been debated, mainly because of a lack of epidemiological data. We aimed to assess both testing for atypical pathogens and their prevalence in hospitalized patients with CAP worldwide, especially in relation with disease severity. METHODS: A secondary analysis of the GLIMP database, an international, multicentre, point-prevalence study of adult patients admitted for CAP in 222 hospitals across 6 continents in 2015, was performed. The study evaluated frequency of testing for atypical pathogens, including L. pneumophila, M. pneumoniae, C. pneumoniae, and their prevalence. Risk factors for testing and prevalence for atypical pathogens were assessed through univariate analysis. RESULTS: Among 3702 CAP patients 1250 (33.8%) underwent at least one test for atypical pathogens. Testing varies greatly among countries and its frequency was higher in Europe than elsewhere (46.0% vs. 12.7%, respectively, p < 0.0001). Detection of L. pneumophila urinary antigen was the most common test performed worldwide (32.0%). Patients with severe CAP were less likely to be tested for both atypical pathogens considered together (30.5% vs. 35.0%, p = 0.009) and specifically for legionellosis (28.3% vs. 33.5%, p = 0.003) than the rest of the population. Similarly, L. pneumophila testing was lower in ICU patients. At least one atypical pathogen was isolated in 62 patients (4.7%), including M. pneumoniae (26/251 patients, 10.3%), L. pneumophila (30/1186 patients, 2.5%), and C. pneumoniae (8/228 patients, 3.5%). Patients with CAP due to atypical pathogens were significantly younger, showed less cardiovascular, renal, and metabolic comorbidities in comparison to adult patients hospitalized due to non-atypical pathogen CAP. CONCLUSIONS: Testing for atypical pathogens in patients admitted for CAP in poorly standardized in real life and does not mirror atypical prevalence in different settings. Further evidence on the impact of atypical pathogens, expecially in the low-income countries, is needed to guidelines implementation.
- Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to DyshormonogenesisPublication . Figueiredo, C.; Falcão, I.; Vilaverde, J.; Freitas, J.; Oliveira, M.; Godinho, C.; Dores, J.; Rodrigues, M.; Carvalho, C.; Borges, T.Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Magnetic resonance was suggestive of goiter causing airway deviation without polyhydramnios. Maternal thyroid function was normal and thyroid antibodies were negative. Two intra-amniotic levothyroxine infusions were performed at 32 and 33 weeks. Serial imaging control showed no progression of the mass. Elective caesarean section was performed at 38 weeks. The male newborn was admitted to the intensive care unit due to cardiorespiratory insufficiency with pulmonary hypertension. Hormonal assays revealed primary congenital hypothyroidism and ultrasonography confirmed diffuse goiter. Levothyroxine was started. Currently, he is 6 years old with adequate growth and normal psychomotor development. Genetic study found a heterozygous mutation in the TPO gene.
- Um achado incomum no exame da fontanela anteriorPublication . Pinho, Catarina Marques; Teixeira, Joana Vidal; Nogueira, Antony; da Silva, Ana Ribeiro; Martins, AlexandraIntrodução: A palpação da fontanela anterior permite avaliar o volume e pressão intracranianos. Uma fontanela tensa numa criança tranquila e observada em posição vertical sugere hipertensão intracraniana, que pode ter várias etiologias, nomeadamente processos neoformativos. Caso clínico: Uma lactente do sexo feminino, de dois meses de idade, recorreu a consulta na sua Unidade de Saúde Familiar por tumefação na fontanela anterior. Objetivou-se a presença de tumefação nodular, de consistência mole, com cerca de 1 cm de maior diâmetro. A ecografia transfontanelar revelou um provável quisto epidermoide. A lactente foi referenciada para Cirurgia Pediátrica, tendo realizado ecografia de controlo após dois meses, que revelou crescimento da lesão, motivo pelo qual foi referenciada para Neurocirurgia. Efetuou ressonância magnética encefálica, que confirmou o diagnóstico ecográfico e excluiu comunicação da lesão com estruturas endocranianas. A lactente manteve seguimento por Neurocirurgia e foi decidido manter vigilância até a fontanela encerrar para realização da cirurgia de exérese. O exame histológico confirmou o diagnóstico de quisto dermoide. Discussão:A vigilância clínica e os achados dos exames imagiológicos demonstraram o carácter benigno da lesão, permitindo adiar a intervenção cirúrgica.
- Dermatology clinical casePublication . Brandão, Pedro; Falcão-Reis, Inês; Rodrigues, Cátia; Ferreira, Vânia; Sá, IsabelUlcus Vulvae Acutum or Lipschütz ulcer is a rare cause of acute vulvar ulcer that usually affects young, non-sexually active women and consists on the sudden emergence of vulvar ulcers some days after an influenza-like syndrome, usually caused by Epstein-Barr virus. Despite its exuberant presentation, such ulcers are benign and self-limited. Diagnosis is clinical and treatment, symptomatic. Lesions typical resolve within a few weeks, leaving no scars. The authors describe the case of a 17-year-old, sexually active female adolescent with Lipschütz ulcers.
- Imaging clinical casePublication . Martins, Cristiana; Ferreira, Jorge; Pereira, GabrielaIntroduction: Acute hemorrhagic edema of infancy (AHEI) is a rare and benign leukocytoclastic vasculitis, frequently misdiagnosed. Case report: A twelve-month-old boy presented with a seven-day history of coryza and cough associated with lowgrade fever and the sudden appearance of a purpuric rash over the left lower limb. It progressed to an annular purpuric rash, with well-defined edges, on the face, limbs, ears, buttocks, and scrotum, with right tibiotarsal joint edema. Mild thrombocytosis was detected on laboratorial investigation. Patient was treated with a two-day course of oral betamethasone, with clinical improvement. No complications were reported within three weeks of follow-up. Discussion: AHEI has a sudden onset and a benign, self-limiting course. This report may be a helpful reminder to discriminate AHEI from other, more serious diseases, avoiding exhaustive and unnecessary investigation.
- Perinatal clinical casePublication . Alves, Marta; Branco, Liliana; Lopes, Andreia; Pereira, BárbaraA 16-day-old male was observed at the Emergency Department for a right cervical mass noticed on the same day by the parents, with no other associated symptoms. He was a fullterm child, delivered by vacuum extraction, with an uneventful perinatal period. At the time of physical examination, a cervical mass was palpable in the inferior portion of the right sternocleidomastoid muscle, in association with ipsilateral torticollis. Cervical ultrasound revealed a fusiform thickening of the sternocleidomastoid muscle, with well-defined, hypoechoic margins, confirming the diagnosis of fibromatosis colli. Parents were instructed to adopt positioning measures and physical therapy was initiated, with clinical resolution by seven months of age. Fibromatosis colli is the most severe presentation of congenital muscular torticollis. Although typical clinical findings usually enable the diagnosis, cervical ultrasound is useful to confirm muscular origin of the mass. Torticollis in the opposite direction of the mass, spinal deformities, abnormal eye movements, or other abnormal neurological findings
- Fever from Primary Tooth Eruption – What is the evidence?Publication . Matos, Sara; Silva, PatríciaIntroduction: There is no consensus on the causal relationship between primary dental eruption and both systemic and local signs and symptoms. Fever, an important sign, is often reported. Such lack of evidence hampers clinical reasoning and may contribute to delayed diagnosis of important conditions. Objective: To review existing evidence underlying the association between primary tooth eruption and fever. Methods: A review of the evidence on English, Portuguese and Spanish scientific publications over the last ten years was performed in the main international databases using the query “tooth eruption” and “fever” [MeSH], and in the index of Portuguese medical journals using the query “erupção dentária” and “febre” [DeCS]. SORT system of the American Family Physician was used for rating the strength of evidence. Results: A total of 53 articles were retrieved, from which two meta-analyses and two original studies were selected, comprising a total of 5317 children. Massignan et al. (2016) meta-analysis and Memarpour et al. (2015) clinical trial found a slight temperature increase on the day of primary tooth eruption, but no fever. In Nemezio et al. (2017) meta-analysis, this association was observed in the subgroup that used the rectal method for temperature assessment. Un Lam et al. (2016) observational study reported a fever prevalence of 49.9%. Discussion and conclusions: The present analysis had several limitations, including a significant heterogeneity amongst studies in the definition of fever, interpersonal variability during fever measurements, different fever assessment methods or absence of that information, and no exclusion of confounding factors. Given available evidence, it is not possible to establish a clear association between primary dental eruption and the occurrence of fever. A higher number of robust studies is required to confirm this hypothesis (SORT B).
- Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical casePublication . Silva, Cláudia Teles; Madureira, Cristina; Melo, Cláudia; Martins, Cecília; Cardoso, Raquel; Miguel, CristinaIntroduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report:A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. A genetic study for myotonic dystrophy was requested, which revealed cytosine thiamine and guanine (CTG) expansion in the DMPK gene (1100−1400 repeats), confirming diagnosis of congenital DM1. Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition. Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up.