2224 research outputs found
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REALMS study: real-world effectiveness and safety of fingolimod in patients with relapsing-remitting multiple sclerosis in Portugal
No full textBackground: Fingolimod, an oral sphingosine 1-phosphate receptor modulator, is approved by EMA for relapsing-remitting multiple sclerosis (RRMS).
Objectives: To assess the effectiveness and safety of fingolimod in patients with RRMS in real-world clinical practice in Portugal.
Methods: Retrospective, multicentre, non-interventional study, reporting 3 years follow-up of data collected from October 2015 to July 2016. Sociodemographic data and previous treatments at baseline and data regarding disease evolution, including number of relapses, annualised relapse rates (ARR) and Expanded Disability Status Scale (EDSS), were collected.
Results: Two-hundred and seventy-five participants were enrolled in the REALMS study. Results showed that the main reason to switch to fingolimod was failure of previous treatment (56.7%) and only 3.6% were naïve patients. In the total population, there was a significant decrease in ARR of 64.6% in the first year of treatment, 79.7% in the second year and 82.3% in the third year, compared with baseline. More than 67.0% of patients had no relapses during the 3 years after switching to fingolimod. EDSS remained stable throughout the study.
Conclusions: Therapy with fingolimod showed a sustained effectiveness and safety over the 3 years, particularly on patients switched from first-line drugs (BRACE). No new safety issues were reported.info:eu-repo/semantics/publishedVersio
Therapeutic plasma exchange in patients in a portuguese ICU
Get PDFPurpose: The aim of this study is to characterize a Portuguese Intensive Care Unit experience in therapeutic plasma exchange in critically
ill patients. Methods: We performed a retrospective analysis of the patients treated with therapeutic plasma exchange between 2000 and
2019. Data on patient characteristics, therapeutic plasma exchange prescription, adjuvant therapy used, adverse events and outcome under
treatment were collected. Results: A total of 101 therapeutic plasma exchange procedures in 20 patients were studied. Mean number of
therapeutic plasma exchange sessions per patient was 5.1±1.3. The most frequent indications to begin this treatment were myasthenia gravis
(25.0%) and anti -neutrophil -cytoplasmic antibody -associated vasculitis (15.0%). There were 45.5% adverse events and the most frequent was
hypotension (15.2%). 98% of the complications were mild -to -moderate. The outcome was favorable in 60.0% of patients. Conclusion: Therapeutic plasma exchange is an effective and safe therapy in many diseases that had high morbidity and mortality prior to the use of this technique.info:eu-repo/semantics/publishedVersio
CARACTERIZAÇÃO DA POPULAÇÃO DE MULHERES GRÁVIDAS SEGUIDAS NUM SERVIÇO DE SAÚDE MENTAL
Get PDFIntroduction: Psychopathological symptoms are common during pregnancy and their detection and referral to specialized care is often
suboptimal. The aim of this study was to perform a descriptive analysis of sociodemographic, mental health, and obstetric features of a
population of pregnant women followed at Psychiatry consultation.
Methodology: This was a cross-sectional, descriptive study of women followed both at Gynecology/Obstetrics and Psychiatry consultations
of Hospital Prof. Doutor Fernando Fonseca between 2014 and 2016. A total of 76 women were included, for whom pre-defined features
associated in the literature with risk of developing psychopathological symptoms during pregnancy were collected.
Results and Discussion: Risk factors identified in the development of depressive symptoms included absence of an affective relationship
during pregnancy (n=11; 14.5%), being first-generation immigrant (n=17; 22.4%), and substance use before (n=18; 23.7%) or during (n=10;
13.1%) pregnancy. Sample was divided into women with previous Psychiatry follow-up who became pregnant (n=44; 57.9%) and women
referred to Psychiatry consultation during pregnancy (n=32; 42.1%). In the second group, 18.8% (n=6) of referrals were from primary health
care, being relevant to understand whether this represents an under-referral. Prescription of 21 risk category D drugs was identified, alerting
to the need of caution in pharmacological prescription and of considering non-pharmacological options (e.g., cognitive-behavioral therapy)
for management of these cases.
Conclusions: Risk factors identified in this study represent an opportunity to optimize clinical practice and improve these patients’ follow-upinfo:eu-repo/semantics/publishedVersio
Urethral leak: an unusual symptom of pudendal nerve entrapment
Get PDFPudendal nerve (PN) entrapment is one of the most misunderstood and underdiagnosed medical conditions. It is recognized as a cause of chronic pelvic pain syndrome. However, due to the pudendal nerve's mixed composition and complex anatomy, the presenting symptoms are varied and go beyond pain, depending on the entrapment's nature, location and duration. We report a unique case of a young patient presenting with a urethral leak refractory to antibiotics. Patient evaluation highlighted findings suspicious of pudendal nerve entrapment. The patient was submitted to a laparoscopic transperitoneal PN neurolysis, resulting in major symptoms improvement.info:eu-repo/semantics/publishedVersio
Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis
Get PDFINTRODUCTION:
Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epileptic encephalopathies. We aim to discuss the current knowledge about the genetic architecture of epileptic encephalopathies of childhood.
MATERIAL AND METHODS:
review of the literature about infantile epileptic encephalopathies and the genetic tests currently available. A systematic approach and a diagnostic algorithm to use in clinical practice were proposed.
RESULTS:
Initially the patient's phenotype should be determined based on the seizure type, electroencephalogram pattern and neuroimaging. Patients with unclear etiology after brain magnetic resonance imaging should undergo an appropriate metabolic investigation to promptly exclude treatable conditions. Further studies should also include other genetic causes, mainly if associated with particular phenotypic features. Chromosomal microarray analysis should be firstly considered, particularly if dysmorphic or polymalformative abnormalities are present. If this is negative and/or there are no physical features, the next step should be next-generation sequencing multigene panels or whole-exome sequencing. Single gene study should only be considered when the patient's phenotype is highly suggestive of a specific syndrome.
CONCLUSION:
The revolution of the genetic knowledge about epileptic encephalopathies of childhood has led to a complex diagnostic approach. This new paradigm poses significant implications in genetic counselling, treatment and prognosis.Introdução: As encefalopatias epilépticas da infância constituem um grupo de patologias de início precoce e prognóstico neurológico
reservado. O desenvolvimento das novas técnicas de estudo genético foi responsável pela identificação de novos genes implicados.
Nos últimos anos, assistimos a uma revolução no seu paradigma diagnóstico. Contudo, actualmente não existem recomendações
internacionais consensuais sobre a abordagem à investigação das encefalopatias epilépticas genéticas. Pretendemos discutir o conhecimento actual sobre a arquitectura genética das encefalopatias epilépticas infantis.
Material e Métodos: Realizou-se uma revisão da literatura das encefalopatias epilépticas infantis genéticas e estudos utilizados no
seu diagnóstico. Propomos uma abordagem sistematizada através de um algoritmo diagnóstico a utilizar na prática clínica.
Resultados: Inicialmente deve-se determinar o fenótipo do doente com base no tipo de crises, padrão electroencefalográfico e neuroimagem. Nos doentes sem etiologia após resultados de ressonância magnética cranioencefálica, deve-se realizar estudo metabólico
apropriado para o diagnóstico prioritário de doenças metabólicas tratáveis. A investigação de outras causas genéticas deve ser considerada, sobretudo perante características fenotípicas sugestivas. Primeiro deve-se realizar a análise de microarray cromossómico,
principalmente se existirem alterações dismórficas ou polimalformativas. Se esta for negativa e/ou não existirem elementos físicos
distintivos, o próximo passo deve ser realizar os painéis multigénicos ou sequenciação de exoma. Os estudos dirigidos do gene devem
ser reservados para quando o fenótipo é indicativo de uma síndrome específica.
Conclusão: A marcha diagnóstica das encefalopatias epilépticas tornou-se complexa com a expansão de conhecimentos genéticos.
Este novo paradigma apresenta implicações terapêuticas, prognósticas e de aconselhamento familiar.info:eu-repo/semantics/publishedVersio
Bone Marrow Langerhans Cell Histiocytosis in Association with Kasabach-Merritt Syndrome: The Difficulty of a Differential Diagnosis
Get PDFLangerhans cell histiocytosis is a rare haematological disorder with variable clinical findings and a high mortality rate. On the other hand, Kasabach-Merritt syndrome is of rare onset at adult age, requiring the simultaneous presentation of vascular lesion, thrombocytopenia, and consumptive coagulopathy. We present the first reported case of both diseases in a single patient and highlight the difficulties of diagnostic. A 69-year-old woman with immune thrombocytopenic purpura underwent surgery for the removal of giant skin haemangiomas. During post-operative care, intravascular disseminated coagulopathy developed. After weeks of corticosteroids and immunosuppressive therapy with no clinical improvement, pulmonary tuberculosis was diagnosed and appropriate treatment initiated. Despite all the efforts, the patient's clinical condition kept worsening and she eventually died. An autopsy revealed bone marrow Langerhans cell histiocytosis. In this case, the patient's autoimmune background together with tuberculosis and intravascular disseminated coagulopathy masked the presentation and made the diagnosis of a rapidly progressive fatal disease very difficult.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
Pregnancy with anti-PP1Pk antibody managed with prednisolone and low-molecular-weight heparin – A case report and literature review
Get PDFThe anti-PP1Pk is a rare antibody associated with recurrent miscarriages, mainly in the first half of pregnancy.
There seems to be a direct correlation between the antibody titer and risk of miscarriage. As this is a rare entity,
few case reports have been published. The most frequently proposed therapeutic approaches are doublefiltration plasmapheresis and plasma exchange therapy. The rationale behind them is to remove the cytotoxic
antibodies from maternal circulation. Here, we present the case of a 30-year-old woman with a history of two
spontaneous miscarriages and a pre-conception anti-PP1Pk antibody titer of 1:4. As soon as she became pregnant, she was placed on prednisolone and low-molecular-weight heparin (LMWH). Biweekly antibody titers
were performed throughout the entire gestation and remained below 1:16. As the titers were considered to be
low, plasmapheresis was not performed. The pregnancy was uneventful and she delivered a healthy newborn
child at 37 weeks of gestation, with no signs of anaemia.info:eu-repo/semantics/publishedVersio
Can epigenetic and inflammatory biomarkers identify clinically aggressive prostate cancer?
Get PDFProstate cancer (PCa) is a highly prevalent malignancy and constitutes a major cause of cancer-related morbidity and mortality. It emerges through the acquisition of genetic and epigenetic alterations. Epigenetic modifications include DNA methylation, histone modifications and microRNA deregulation. These generate heritable transformations in the expression of genes but do not change the DNA sequence. Alterations in DNA methylation (hypo and hypermethylation) are the most characterized in PCa. They lead to genomic instability and inadequate gene expression. Major and minor-specific modifications in chromatin recasting are involved in PCa, with signs suggesting a dysfunction of enzymes modified by histones. MicroRNA deregulation also contributes to the initiation of PCa, including involvement in androgen receptor signalization and apoptosis. The influence of inflammation on prostate tumor carcinogenesis is currently much better known. Recent discoveries about microbial species resident in the urinary tract suggest that these are the initiators of chronic inflammation, promoting prostate inflammatory atrophy and eventually leading to PCa. Complete characterization of the relationship between the urinary microbiome and prostatic chronic inflammation will be crucial to develop plans for the prevention of PCa. The prevalent nature of epigenetic and inflammatory alterations may provide potential biomarkers for PCa diagnosis, treatment decisions, evaluation of prognosis and posttreatment surveillance.info:eu-repo/semantics/publishedVersio