Centro Hospitalar do Porto
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A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management
Get PDFPinto A, MacDonald A, Cleto E, Almeida MF, Ramos PC, Rocha JC. A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management. Turk J Pediatr 2017; 59: 189-192. The objective was to describe the nutritional management of a 4-year-old child with glucose-6-phosphate dehydrogenase (G6PD) deficiency. A 4-year-old male child, African descent, born from non-consanguineous parents presented with a clinical history of frequent respiratory infections, usually treated with antibiotics. At 30 months of age, G6PD diagnosis was made after eating one portion (40 - 60 g) of fava beans, resulting in severe hemolytic anemia hospitalization for 5 days. Diagnosis was confirmed by G6PD activity measurement. Nutritional counseling was given to avoid dietary oxidative stressors particularly the exclusion of fava beans and accidental ingestion of other similar beans. Dietary intake of high vitamin C containing foods was discouraged and adequate hydration advised. Nutritional management is crucial in preventing acute stress events in patients with G6PD deficiency.info:eu-repo/semantics/publishedVersio
Tratamento de Infeções Protésicas com Cirurgia de Revisão a Dois Tempos - resultados de um estudo prospetivo com abordagem protocolada
Get PDFObjetivo: A cirurgia de revisão com extração do implante, por oferecer os resultados mais previsíveis, é considerada o tratamento de eleição nas infeções protésicas. O nosso pressuposto é que uma abordagem protocolada contribui para um melhor controlo da infeção reduzindo a morbilidade para o doente. O objetivo deste estudo é apresentar o nosso protocolo de atuação e os resultados obtidos com a sua implementação.
Material e Métodos: Trata-se de um estudo clínico prospetivo que inclui todos os doentes com infeção protésica tratados entre Janeiro/2012 e Dezembro/2015 de modo a oferecer um seguimento mínimo de 12 meses. A definição de infeção protésica seguiu os critérios internacionalmente estabelecidos e o tratamento médico e cirúrgico foi realizado de forma estandardizada. Todos os doentes foram submetidos a extração de prótese e colocação de espaçador com antibiótico em altas doses.
Resultados: Foram incluídos 29 doentes (19 joelhos e 10 ancas) com uma idade média de 67 anos. Registaram-se duas mortes relacionadas. Foi possível controlar a infeção em todos os casos embora em dois casos não se tenha completado o segundo tempo de revisão. Nos 25 casos em que se realizou o segundo tempo, o intervalo médio entre os dois tempos foi de 11 semanas e com um seguimento médio de 30 meses não se registou qualquer recidiva da infeção. A taxa global de sucesso é de 86% (25/29).
Conclusões: A abordagem protocolada proposta permitiu a obtenção de bons resultados com significativa diminuição da morbilidade entre os dois tempos de revisão sem comprometer a segurançainfo:eu-repo/semantics/publishedVersio
Efeito do Mês de Nascimento no Risco de Desenvolver Psoríase
Get PDFIntrodução: A psoríase é uma dermatose imunomediada caraterizada por inflamação crónica, proliferação e diferenciação anormal dos queratinócitos, hiperplasia vascular e infiltração de células inflamatórias. É uma doença multifatorial influenciada por alterações genéticas e epigenéticas despoletadas por estímulos ambientais. O clima e a exposição solar parecem afetar a prevalência da psoríase e a radiação ultravioleta é útil na abordagem terapêutica. O nosso objectivo foi avaliar a influência do mês de nascimento (como marcador da época de gestação) no risco de desenvolver psoríase.
Métodos: Comparação da distribuição dos meses de nascimentos nos pacientes com psoríase (n = 755) seguidos no Centro Hospitalar e Universitário do Porto com uma população controlo constituída pelos cidadãos portugueses nascidos no mesmo período e área geográfica dos pacientes com psoríase (n = 6 560 032).
Resultados: Observou-se uma diminuição do número de nascimentos de pacientes com psoríase no mês de outubro estatisticamente significativa (OR 0,74; 95% CI 0,55 – 0,99; p 0,041). Após correção de Bonferroni e após agrupar os meses por trimestres, não se observaram diferenças estatisticamente significativas.
Conclusão: As diferenças estatísticas pouco significativas e não significativas apresentadas podem ser explicadas pelas características meteorológicas particulares de Portugal que podem tornar a síntese de vitamina D relativamente estável durante o ano. A perceção da influência ambiental no desenvolvimento de determinada patologia é importante porque permite o estabelecimento de medidas preventivas que conduzirão à diminuição da sua incidência.info:eu-repo/semantics/publishedVersio
Monoclonal gammopathy of renal significance: Diagnostic workup
Get PDFThe clinical spectrum of diseases associated with monoclonal gammopathies is wide and they are most commonly the consequence of renal deposition of monoclonal immunoglobulin or its components. The differential diagnosis is difficult and renal biopsy is essential. To distinguish many of these pathologies is necessary to use techniques that are not always available, even in tertiary central hospitals. This review will discuss the clinical presentation, pathologic features, treatment, prognosis and common diagnostic difficulties of these entities.info:eu-repo/semantics/publishedVersio
Urachal Tumor: A Case Report of an Extremely Rare Carcinoma
Get PDFThe urachus is a tubular structure that connects the bladder to the allantois in the embryonic development, involuting after the third trimester. The urachus carcinoma is an extremely rare tumor that accounts for <1% of all bladder cancers. We report a case of a 46-year-old woman, with no past medical history, complaining of hematuria with 6-month duration and a physical exam and an abdominal computed topographic scan revealing an exophytic mass of 6.8 cm longer axis that grew depending on the anterior bladder wall, invading the anterior abdominal wall. Cystoscopy detected mucosal erosion. The biopsy showed structures of adenocarcinoma of enteric type. The surgical specimen showed urachus adenocarcinoma of enteric type with stage IVA in the Sheldon system and stage III in the Mayo system. This case has a 3-year follow-up without disease recurrence.info:eu-repo/semantics/publishedVersio
Toxoplasmosis-associated IRIS involving the CNS: a case report with longitudinal analysis of T cell subsets
Get PDFBACKGROUND:
HIV-infected patients may present an unforeseen clinical worsening after initiating antiretroviral therapy known as immune reconstitution inflammatory syndrome (IRIS). This syndrome is characterized by a heightened inflammatory response toward infectious or non-infectious triggers, and it may affect different organs. Diagnosis of IRIS involving the central nervous system (CNS-IRIS) is challenging due to heterogeneous manifestations, absence of biomarkers to identify this condition, risk of long-term sequelae and high mortality. Hence, a deeper knowledge of CNS-IRIS pathogenesis is needed.
CASE PRESENTATION:
A 37-year-old man was diagnosed with AIDS and cerebral toxoplasmosis. Anti-toxoplasma treatment was initiated immediately, followed by active antiretroviral therapy (HAART) 1 month later. At 2 months of HAART, he presented with progressive hyposensitivity of the right lower limb associated with brain and dorsal spinal cord lesions, compatible with paradoxical toxoplasmosis-associated CNS-IRIS, a condition with very few reported cases. A stereotactic biopsy was planned but was postponed based on its inherent risks. Patient showed clinical improvement with no requirement of corticosteroid therapy. Routine laboratorial analysis was complemented with longitudinal evaluation of blood T cell subsets at 0, 1, 2, 3 and 6 months upon HAART initiation. A control group composed by 9 HIV-infected patients from the same hospital but with no IRIS was analysed for comparison. The CNS-IRIS patient showed lower percentage of memory CD4+ T cells and higher percentage of activated CD4+ T cells at HAART initiation. The percentage of memory CD4+ T cells drastically increased at 1 month after HAART initiation and became higher in comparison to the control group until clinical recovery onset; the percentage of memory CD8+ T cells was consistently lower throughout follow-up. Interestingly, the percentage of regulatory T cells (Treg) on the CNS-IRIS patient reached a minimum around 1 month before symptoms onset.
CONCLUSION:
Although both stereotactic biopsies and steroid therapy might be of use in CNS-IRIS cases and should be considered for these patients, they might be unnecessary to achieve clinical improvement as shown in this case. Immunological characterization of more CNS-IRIS cases is essential to shed some light on the pathogenesis of this condition.This work was funded by the Portuguese Foundation for Science and Technology (FCT; PIC/IC/83313/2007) and co-financed by the Portuguese North Regional Operational Program (ON.2 - O Novo Norte) under the National Strategic Reference Framework (QREN) through the European Regional Development Fund (FEDER). A FCT fellowship was attributed to RRS (PD/BD/106047/2015; Inter-University Doctoral Program in Ageing and Chronic Disease) and to CN [SFRH/BPD/65380/2009; Programa Operacional Potencial Humano (POPH) through the Fundo Social Europeu (FSE)].info:eu-repo/semantics/publishedVersio
Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome
Get PDFBACKGROUND:
Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. The V560G KIT mutation is extremely rare in patients with SM and its biological and prognostic impact remains unknown.
CASE PRESENTATION:
A 15-year old boy was referred to our hospital because of repeated episodes of flushing, hypotension and syncope since the age of 3-years, preceded by skin lesions compatible with mastocytosis on histopathology that had disappeared in the late-early childhood. Diagnosis of ISM, more precisely the ISMs(-) variant, was confirmed based on the clinical manifestations together with increased baseline serum tryptase levels and the presence of morphologically atypical, mature appearing (CD117+high, FcεRI+) phenotypically aberrant (CD2+, CD25+) MCs, expressing activation-associated markers (CD63, CD69), in the bone marrow. Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed.
CONCLUSIONS:
To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.info:eu-repo/semantics/publishedVersio
Pneumocephalus Following Unidentified Dural Puncture: A Case Report with an Unusual Neurological Presentation
Get PDFPneumocephalus is a rare consequence of epidural anesthesia, which may occur following inadvertent or unidentified dural puncture when the loss of resistance to air technique is applied to identify the epidural space. Headache is the most common symptom presented in this condition, usually with sudden onset. This case report describes an unusual presentation of diffuse pneumocephalus after an unidentified dural puncture. The patient (male, 67 years old) was submitted to epidural catheter placement for the treatment of acute exacerbation of ischemic chronic pain using loss of resistance to air technique. No cerebrospinal fluid or blood flashback was observed after needle withdrawal. Shortly after the intervention, the patient presented symptoms of lethargy, apathy, and hypophonia, which are not commonly associated with pneumocephalus. No motor or sensory deficits were detected. Cranial computed tomography showed air in the frontal horn of the left ventricle, subarachnoid space at interhemispheric fissure and basal cisterns, confirming the diagnosis of diffuse pneumocephalus. The patient remained under vigilance with oxygen therapy and the epidural catheter left in place. After 24 hours, cranial computed tomography showed air in the temporal and frontal horns of the left ventricle, with no air in the subarachnoid space. The patient presented no neurological signs or symptoms at this time. Although headache is the most common symptom presented in reported cases of pneumocephalus, this case shows the need for the clinician to be aware of other signs and symptoms that may be indicative of this condition, in order to properly diagnose and treat these patients.info:eu-repo/semantics/publishedVersio
Rotterdam Prostate Cancer Risk Calculator: Development and Usability Testing of the Mobile Phone App
Get PDFBACKGROUND:
The use of prostate cancer screening tools that take into account relevant prebiopsy information (ie, risk calculators) is recommended as a way of determining the risk of cancer and the subsequent need for a prostate biopsy. This has the potential to limit prostate cancer overdiagnosis and subsequent overtreatment. mHealth apps are gaining traction in urological practice and are used by both practitioners and patients for a variety of purposes.
OBJECTIVE:
The impetus of the study was to design, develop, and assess a smartphone app for prostate cancer screening, based on the Rotterdam Prostate Cancer Risk Calculator (RPCRC).
METHODS:
The results of the Rotterdam arm of the European Randomized Study of Screening for Prostate Cancer (ERSPC) study were used to elaborate several algorithms that allowed the risk of prostate cancer to be estimated. A step-by-step workflow was established to ensure that depending on the available clinical information the most complete risk model of the RPCRC was used. The user interface was designed and then the app was developed as a native app for iOS. The usability of the app was assessed using the Post-Study System Usability Questionnaire (PSSUQ) developed by IBM, in a group of 92 participants comprising urologists, general practitioners, and medical students.
RESULTS:
A total of 11 questions were built into the app, and, depending on the answers, one of the different algorithms of the RPCRC could be used to predict the risk of prostate cancer and of clinically significant prostate cancer (Gleason score ≥7 and clinical stage >T2b). The system usefulness, information quality, and interface quality scores were high-92% (27.7/30), 87% (26.2/30), and 89% (13.4/15), respectively. No usability problems were identified.
CONCLUSIONS:
The RPCRC app is helpful in predicting the risk of prostate cancer and, even more importantly, clinically significant prostate cancer. Its algorithms have been externally validated before and the usability score shows the app's interface is well designed. Further usability testing is required in different populations to verify these results and ensure that it is easy to use, to warrant a broad appeal, and to provide better patient care.info:eu-repo/semantics/publishedVersio
Evidence-Based Treatment Options in Recurrent and/or Metastatic Squamous Cell Carcinoma of the Head and Neck
Get PDFThe major development of the past decade in the first-line treatment of recurrent and/or metastatic squamous cell carcinoma of the head and neck (R/M SCCHN) was the introduction of cetuximab in combination with platinum plus 5-fluorouracil chemotherapy (CT), followed by maintenance cetuximab (the "EXTREME" regimen). This regimen is supported by a phase 3 randomized trial and subsequent observational studies, and it confers well-documented survival benefits, with median survival ranging between approximately 10 and 14 months, overall response rates between 36 and 44%, and disease control rates of over 80%. Furthermore, as indicated by patient-reported outcome measures, the addition of cetuximab to platinum-based CT leads to a significant reduction in pain and problems with social eating and speech. Conversely, until very recently, there has been a lack of evidence-based second-line treatment options, and the therapies that have been available have shown low response rates and poor survival outcomes. Presently, a promising new treatment option in R/M SCCHN has emerged: immune checkpoint inhibitors (ICIs), which have demonstrated favorable results in second-line clinical trials. Nivolumab and pembrolizumab are the first two ICIs that were approved by the US Food and Drug Administration. We note that the trials that showed benefit with ICIs included not only patients who previously received ≥1 platinum-based regimens for R/M SCCHN but also patients who experienced recurrence within 6 months after combined modality therapy with a platinum agent for locally advanced disease. In this review, we outline the available clinical and observational evidence for the EXTREME regimen and the initial results from clinical trials for ICIs in patients with R/M SCCHN. We propose that these treatment options can be integrated into a new continuum of care paradigm, with first-line EXTREME regimen followed by second-line ICIs. A number of ongoing clinical trials are comparing regimens with ICIs, alone and in combination with other ICIs or CT, with the EXTREME regimen for first-line treatment of R/M SCCHN. As we eagerly await the results of these trials, the EXTREME regimen remains the standard of care for the first-line treatment of R/M SCCHN.info:eu-repo/semantics/publishedVersio