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Síndrome de Budd-Chiari e Falência Hepática Aguda: Uma Apresentação Incomum de Leucemia Mieloide Aguda
Get PDFAcute liver failure (ALF) is a rare entity, particularly in the context of Budd-Chiari syndrome (BCS). BCS is an uncommon disorder with multiple risk factors, most commonly myeloproliferative disorders. In BCS, active search and exclusion of underlying malignancy is mandatory, particularly in the context of ALF, as it may contraindicate liver transplantation (LT). We present the case of a healthy 29-year-old male, without known risk factors for liver disease, who presented to the emergency department with abdominal pain, ascites, and jaundice. BCS with consequent severe acute liver injury with rapid progression to ALF was diagnosed. The patient was listed for LT. The study of peripheral blood finally revealed myeloid blasts, and flow cytometry showed a population of blast cells with abnormal immunophenotypic profile (CD33+ and myeloperoxidase, MPO+). The bone marrow biopsy showed morphological and immunophenotypic aspects of acute myeloid leukaemia (AML) FAB M1. This diagnosis was considered a formal contraindication to LT, so the patient was delisted. ALF contraindicated rescue chemotherapy and AML contraindicated LT. The patient died 48 h after ICU admission. The search for underlying neoplasia is mandatory in the context of BCS, moreover with associated ALF, as it may limit lifesaving treatments and interventions to supportive and palliative.A falência hepática aguda (FHA) é uma entidade rara, particularmente no contexto da Síndrome de Budd-Chiari (SBC). A SBC é uma doença incomum com múltiplos fatores de risco, principalmente as doenças mieloproliferativas. Na SBC, a procura ativa e exclusão de malignidade subjacente é obrigatória, particularmente no contexto de FHA, já que pode contraindicar o transplante hepático (TH). Apresentamos o caso de um homem de 29 anos saudável, sem fatores de risco conhecidos para doença hepática que se apresentou no serviço de urgência com dor abdominal, ascite e icterícia. A SBC associada a lesão hepática severa com rápida progressão para FHA foi diagnosticada e o doente colocado em lista para TH. O estudo do sangue periférico finalmente revelou a presença de blastos mieloides e a citometria de fluxo a presença de uma população de blastos com perfil imunofenotípico anormal (CD33 + e mieloperoxidase (MPO) +). A biópsia da medula óssea mostrou aspetos morfológicos e imunofenotípicos de leucemia mieloide aguda (LMA) FAB M1. Este diagnóstico foi considerado uma contraindicação formal para o TH, pelo que o doente foi retirado de lista. Pela FHA a quimioterapia de resgate estava também contraindicada. O doente faleceu 48 horas após a admissão na UCI. O despiste de neoplasia subjacente é obrigatório no contexto de SBC, ainda mais com FHA, pois pode limitar o tratamento lifesaving a cuidados de suporte e paliativos.info:eu-repo/semantics/publishedVersio
Lesão no couro cabeludo de um recém-nascido
Get PDFA full-term newborn infant born by vaginal delivery presented with an oval skin defect on the parietal scalp measuring 0.5x0.5 cm. The scalp lesion was conservatively managed, with complete epithelization after several weeks. This skin lesion is consistent with the typical appearance of aplasia cutis congenita (ACC) on the scalp.
ACC is a rare malformation (present in 1 to 3 in 10,000 live births) characterized by localized absence of certain skin layers, mostly on the scalp, but potentially in any part of the body. ACC etiology remains unclear. Diagnosis is mainly clinical and treatment depends on the presence of complications and the child’s condition. A conservative approach is traditionally used for small defects that heal uneventfully with gradual epithelization, as in the present case.info:eu-repo/semantics/publishedVersio
Imunoterapia com veneno de himenópteros numa criança com anafilaxia
Get PDFSystemic reactions to hymenoptera venom in childhood are uncommon, comprising less than 1% of cases. The prevalence proves higher in adults, encompassing 0.3−8.9%. Anaphylaxis forms the most severe of all allergic reactions and can be fatal. Specific immunotherapy based on hymenoptera venom is the only treatment that prevents moderate-to-severe systemic reactions. Due to immunotherapy safety and effectiveness, this treatment is indicated during childhood in cases of grade II and III systemic reactions.
The authors describe the clinical case of a fourteen-year-old male patient, son of a beekeeper, who was followed in the Allergy and Clinical Immunology Department due to anaphylaxis to hymenoptera venom and was under immunotherapy to Apis mellifera venom since the age of nine, besides complying with measures to evade hymenoptera.info:eu-repo/semantics/publishedVersio
Doença de Castleman. Um diagnóstico raro na infância
Get PDFIntroduction: Castleman Disease (CD) is a rare polyclonal lymphoproliferative disorder characterized by massive growth of lymphoid tissue. The most common sites of disease are the chest, abdomen, neck, and axilla. Excisional biopsy is mandatory for diagnosis, and complete surgical resection the gold-standard treatment in unicentric CD. Case report: A ten-year-old girl was observed at the Emergency Department with sore throat and fever. Oropharynx examination revealed inflamed tonsils, with no exudates. Enlarged lymphadenopathy was palpable in the right supraclavicular fossa. Ultrasound revealed right supraclavicular lymphadenopathy with loss of adipose hilum and histopathologic assessment established CD diagnosis. Discussion/Conclusion: Lymphadenopathy is a common presentation in children, usually benign and self-limited. But it may also be a sign of underlying malignancy. Any lymphadenopathy in the supraclavicular fossa is worrisome and requires prompt investigation. CD diagnosis may be challenging, due its rare nature in childhood and nonspecific symptoms.info:eu-repo/semantics/publishedVersio
Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis
Get PDFThe liver-derived, circulating transport protein transthyretin (TTR) is the cause of systemic hereditary (ATTRv) and wild-type (ATTRwt) amyloidosis. TTR stabilization and knockdown are approved therapies to mitigate the otherwise lethal disease course. To date, the variety in phenotypic penetrance is not fully understood. This systematic review summarizes the current literature on TTR pathophysiology with its therapeutic implications. Tetramer dissociation is the rate-limiting step of amyloidogenesis. Besides destabilizing TTR mutations, other genetic (RBP4, APCS, AR, ATX2, C1q, C3) and external (extracellular matrix, Schwann cell interaction) factors influence the type of onset and organ tropism. The approved small molecule tafamidis stabilizes the tetramer and significantly decelerates the clinical course. By sequence-specific mRNA knockdown, the approved small interfering RNA (siRNA) patisiran and antisense oligonucleotide (ASO) inotersen both significantly reduce plasma TTR levels and improve neuropathy and quality of life compared to placebo. With enhanced hepatic targeting capabilities, GalNac-conjugated siRNA and ASOs have recently entered phase III clinical trials. Bivalent TTR stabilizers occupy both binding groves in vitro, but have not been tested in trials so far. Tolcapone is another stabilizer with the potential to cross the blood-brain barrier, but its half-life is short and liver failure a potential side effect. Amyloid-directed antibodies and substances like doxycycline aim at reducing the amyloid load, however, none of the yet developed antibodies has successfully passed clinical trials. ATTR-amyloidosis has become a model disease for pathophysiology-based treatment. Further understanding of disease mechanisms will help to overcome the remaining limitations, including application burden, side effects, and blood-brain barrier permeability.info:eu-repo/semantics/publishedVersio
T790M-EGFR mutation frequency in advanced NSCLC patients on progression from a previous TKI therapy: results from a Portuguese study
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Changes to TB care in an outpatient centre during the COVID‐19 pandemic
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Long-Term Visual Function Effects of Pan-Retinal Photocoagulation in Diabetic Retinopathy and Its Impact in Real Life
Get PDFPurpose: To address the long-term visual function after bilateral pan-retinal photocoagulation (PRP) and its impact in real life, namely on visual field (VF) legal criteria to drive. To determine potential predictors related to clinical factors and treatment strategies.
Patients and methods: Observational cross-sectional study. Eyes from diabetic patients diagnosed with diabetic retinopathy who underwent bilateral PRP, with or without macular treatments and with visual acuity legal criteria for non-professional driving were randomly assigned. Main outcomes were: demographic and clinical data including best corrected visual acuity; binocular visual field (EBST-Esterman Binocular Suprathreshold Test, Humphrey analyzer3®); contrast sensitivity (CS-Metrovision-MonPack3®); light scattering in the retina (HD Analyzer, Visiometrics®).
Results: Seventy-one diabetic patients included (44 men and 27 women), with a mean age of 62.2±11.8 years. PRP was performed, on average, 9.7±6.9 years before the study. The average EBST Score was 85.8±17.0 and the average CS (2-5cpd) was 19.5±2.9 dB in photopic and 14.2±4.1 dB in mesopic conditions. Through a multivariate regression model, after adjusting to the clinical and demographic factors as possible confounders, we found that treatment factors associated with worse results were the use of Argon laser for the EBST Score, the very confluent PRP for the number of non-viewed points in the central 30°x20° of the EBST and the presence of macular treatments for the CS tests. According to Portuguese law, 79% (n=56) of patients had minimal EBST amplitudes for non-professional driving.
Conclusion: The functional results achieved in our sample are compatible with an active life, allowing most of the patients included to overcome the requirements of Portuguese legislation for driving light vehicles, namely at the level of the binocular visual field. These results highlight the role of PRP in the treatment of diabetic retinopathy in an era with evolving less aggressive laser options.info:eu-repo/semantics/publishedVersio
Limitations and perceived delays for diagnosis and staging of lung cancer in Portugal: A nationwide survey analysis
Get PDFBackground: We aimed to identify the perception of physicians on the limitations and delays for diagnosing, staging and treatment of lung cancer in Portugal.
Methods: Portuguese physicians were invited to participate an electronic survey (Feb-Apr-2020). Descriptive statistical analyses were performed, with categorical variables reported as absolute and relative frequencies, and continuous variables with non-normal distribution as median and interquartile range (IQR). The association between categorical variables was assessed through Pearson's chi-square test. Mann-Whitney test was used to compare categorical and continuous variables (Stata v.15.0).
Results: Sixty-one physicians participated in the study (45 pulmonologists, 16 oncologists), with n = 26 exclusively assisting lung cancer patients. Most experts work in public hospitals (90.16%) in Lisbon (36.07%). During the last semester of 2019, responders performed a median of 85 (IQR 55-140) diagnoses of lung cancer. Factors preventing faster referral to the specialty included poor articulation between services (60.0%) and patients low economic/cultural level (44.26%). Obtaining National Drugs Authority authorization was one of the main reasons (75.41%) for delaying the begin of treatment. The cumulative lag-time from patients' admission until treatment ranged from 42-61 days. Experts believe that the time to diagnosis could be optimized in around 11.05 days [IQR 9.61-12.50]. Most physicians (88.52%) started treatment before biomarkers results motivated by performance status deterioration (65.57%) or high tumor burden (52.46%). Clinicians exclusively assisting lung cancer cases reported fewer delays for obtaining authorization for biomarkers analysis (p = 0.023). Higher waiting times for surgery (p = 0.001), radiotherapy (p = 0.004), immunotherapy (p = 0.003) were reported by professionals from public hospitals.
Conclusions: Physicians believe that is possible to reduce delays in all stages of lung cancer diagnosis with further efforts from multidisciplinary teams and hospital administration.his work was supported by AstraZeneca. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscripinfo:eu-repo/semantics/publishedVersio