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Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1
Get PDFAlthough previously reported, the existence of a neurofibromatosis (NF)-associated diffuse lung disease (DLD) still lacks solid evidence. We report a case of a 68-year-old non-smoking female with NF1, pre-capillary pulmonary hypertension (PH) and an interstitial lung pattern. Initial findings included progressive dyspnea, hypoxemia and sparse centrilobular ground-glass micronodules on high-resolution computed tomography (HRCT). Further study demonstrated a severe defect in diffusing capacity for carbon monoxide (DLCO), macrophages on bronchoalveolar lavage and pre-capillary PH on right cardiac catheterization. Surgical biopsy revealed macrophage accumulation along bronchovascular bundles and alveolar spaces and type II pneumocytes hyperplasia. Given the absence of environmental exposure or new drugs, a NF-DLD was hypothesized. Pre-capillary PH was disproportionate to interstitial findings, so it was attributed to a NF1-vasculopathy. Treatment with triple sequential combined therapy was unsuccessful culminating in death 18 months later. This case adds HRCT and anatomopathological data suggesting NF-DLD as a distinct manifestation of the disease.info:eu-repo/semantics/publishedVersio
Inherited p40phox deficiency differs from classic chronic granulomatous disease
Get PDFBiallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries. These patients display 8 different in-frame or out-of-frame mutations of NCF4 that are homozygous in 11 of the families and compound heterozygous in another. When overexpressed in NB4 neutrophil-like cells and EBV-transformed B cells in vitro, the mutant alleles were found to be LOF, with the exception of the p.R58C and c.120_134del alleles, which were hypomorphic. Particle-induced NADPH oxidase activity was severely impaired in the patients' neutrophils, whereas PMA-induced dihydrorhodamine-1,2,3 (DHR) oxidation, which is widely used as a diagnostic test for chronic granulomatous disease (CGD), was normal or mildly impaired in the patients. Moreover, the NADPH oxidase activity of EBV-transformed B cells was also severely impaired, whereas that of mononuclear phagocytes was normal. Finally, the killing of Candida albicans and Aspergillus fumigatus hyphae by neutrophils was conserved in these patients, unlike in patients with CGD. The patients suffer from hyperinflammation and peripheral infections, but they do not have any of the invasive bacterial or fungal infections seen in CGD. Inherited p40phox deficiency underlies a distinctive condition, resembling a mild, atypical form of CGD.info:eu-repo/semantics/publishedVersio
Laser flare photometry: a cost-effective method for early detection of endophthalmitis after intravitreal injection of anti-VEGF agents
Get PDFIntravitreal 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.info:eu-repo/semantics/publishedVersio
Infectious risk of elderly patients on peritoneal dialysis: Experience of a portuguese center
Get PDFBackground: The goal of this study was to compare the risk of peritoneal dialysis‑related infections in younger and older patients and to identify risk factors for infection in elderly patients.
Methods: We performed a longitudinal retrospective study on a population of Portuguese peritoneal dialysis patients treated at the same center between January 2005 and December 2015. Clinical and laboratory data were collected from medical reports. Two groups of patients were compared: non elderly (< 65 years) and elderly (≥ 65 years).
Results: Among 100 patients, there were 73 non elderly (median age 52 years) and 27 elderly (median age 74 years). Elderly patients were not associated with higher PD‑infection rates or with less time to PD‑related infections. Cerebrovascular disease was the only significant adverse predictor of peritonitis in elderly (crude HR 3.8; 95% CI 1.10 to 13.34; P = 0.035) and those with higher levels of serum albumin were less likely to develop peritonitis (crude HR 0.47 per each g/dl of increase; 95% CI 0.24 to 0.89; P = 0.023).
Conclusions: In our study, elderly patients did not present a greater risk for peritonitis or catheter‑related infections.info:eu-repo/semantics/publishedVersio
Biosimilar Agents for Psoriasis Treatment: The Perspective of Portuguese Patients
Get PDFINTRODUCTION:
Biosimilars are highly similar copies of previously approved original biologic medicines. Their introduction on the market may yield cost reduction. The aim of this study was to evaluate the perspectives of psoriasis patients on biosimilar medications.
MATERIALS AND METHODS:
We conducted a 14 questions survey of psoriasis patients receiving biological therapy and followed-up in a dermatology department of a Portuguese tertiary care hospital.
RESULTS:
From a total of 108 patients included, 70.4% of patients did not know the definition of biosimilar agent and 76.6% of patients showed partial or total interest in using a biosimilar drug. Nearly 80% of patients partially or totally agreed in using a biosimilar drug in order to reduce healthcare costs with psoriasis treatment. However, the lack of studies in the European population and in psoriatic patients led most of the patients (72.2% and 75.0%, respectively) to somewhat or completely oppose to the use of biosimilars. Demographic variables, household income and type of current biologic therapy did not affect patient preferences.
DISCUSSION:
Despite of the unfamiliarity of the respondents with biosimilars, most patients seem receptive to their use. Nevertheless, there are two issues of concern: i) the use of biosimilars that are not tested in a European population, and ii) its approval for psoriasis without trials in this disease. Thus, an immediate need exists for patient education about biosimilars.
CONCLUSION:
Biosimilars may increase patient access to biologic therapies. Improved communication and the involvement of patients in decision-making regarding biosimilars may increase their acceptance in future.Os agentes biossimilares são cópias muito semelhantes de agentes biológicos originais previamente aprovados. A sua introdução no mercado tem como objetivo reduzir custos. O objetivo deste estudo foi avaliar as perspetivas dos doentes com psoríase sobre os medicamentos biossimilares. Material e Métodos: Foi realizado um inquérito com 14 questões em doentes com psoríase medicados com agentes biológicos e seguidos num Serviço de Dermatologia de um hospital terciário português. Resultados: Dos 108 doentes incluídos, 70,4% desconheciam a definição de agente biossimilar e 76,6% mostraram interesse parcial ou total no uso de medicamentos biossimilares. Perto de 80% concordaram com o uso de agentes biossimilares de modo a reduzir os custos associados às terapêuticas biológicas. Contudo, a ausência de estudos na população europeia e em doentes com psoríase levaram a maioria dos doentes (72,2% e 75,0%, respetivamente) a oporem-se, parcial ou totalmente, ao uso dos medicamentos biossimilares. Dados demográficos, rendimento mensal e tipo de terapêutica biológica não influenciaram as preferências dos doentes. Discussão: Apesar do desconhecimento dos participantes sobre os medicamentos biossimilares, a maioria dos doentes parece recetiva à sua utilização. Todavia, existem dois motivos de preocupação: i) o uso de medicamentos biossimilares que não foram testados na população europeia, e ii) a sua aprovação para a psoríase sem estudos nesta doença. Assim, é necessário fornecer mais informação aos doentes sobre os medicamentos biossimilares. Conclusão: Os biossimilares podem aumentar o acesso dos doentes a terapêuticas biológicas. Melhor comunicação e o envolvimento dos doentes na tomada de decisões relativamente aos medicamentos biossimilares pode aumentar a adesão no futuro.info:eu-repo/semantics/publishedVersio
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies
Get PDFBACKGROUND:
We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities.
CASE PRESENTATION:
We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. FMR1 mutation screening revealed a methylated full mutation and a normal but inactive FMR1 allele, which led to further investigation. Complete skewing of X-chromosome inactivation towards the paternally-inherited normal-sized FMR1 allele was found. No pathogenic variants were identified in the XIST promoter. Microarray analysis revealed a 439 kb deletion at Xq28, in a region known to be associated with extreme skewing of X-chromosome inactivation.
CONCLUSIONS:
Overall results enable us to conclude that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion. Our findings should be taken into consideration in future guidelines for the diagnostic workup on the diagnosis of intellectual disabilities, particularly in female infant cases.Dr. Paula Jorge received a research grant “Bolsa de Investigação DEFI 2015”, CHP, E.P.E.info:eu-repo/semantics/publishedVersio
KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia
Get PDFIntroduction:
Mast cell (MC) leukemia (MCL) is extremely rare. We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML).
Case Report:
A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea. She had a maculopapular skin rash, hepatosplenomegaly, retroperitoneal adenopathies, pancytopenia, 6% blast cells (BC) and 20% MC in the peripheral blood, elevated lactate dehydrogenase, cholestasis, hypoalbuminemia, hypogammaglobulinemia, and increased serum tryptase (184 μg/L). The bone marrow (BM) smears showed 24% myeloblasts, 17% promyelocytes, and 16% abnormal toluidine blue positive MC, and flow cytometry revealed 12% myeloid BC, 34% aberrant promyelocytes, a maturation blockage at the myeloblast/promyelocyte level, and 16% abnormal CD2-CD25+ MC. The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells. The diagnosis of MCL associated with AML was assumed. The patient received corticosteroids, disodium cromoglycate, cladribine, idarubicin and cytosine arabinoside, high-dose cytosine arabinoside, and hematopoietic stem cell transplantation (HSCT). The outcome was favorable, with complete hematological remission two years after diagnosis and one year after HSCT.
Conclusions:
This case emphasizes the need of an exhaustive laboratory evaluation for the concomitant diagnosis of MCL and AML, and the therapeutic options.info:eu-repo/semantics/publishedVersio
Blood in a Haab Stria
Get PDFWe describe a case of an asymptomatic and spontaneous intracorneal hemorrhage in an adult with congenital glaucoma and blood collected in a Haab stria.info:eu-repo/semantics/publishedVersio
Procedimento de Tikhoff-Linberg - Relato de Casos
Get PDFA maioria dos sarcomas da extremidade superior podem ser tratados hoje com procedimentos que preservam o membro, recorrendo a diferentes técnicas. Para tumores do ombro ou cintura escapular, por vezes a amputação interescapulotorácica é o único tratamento cirúrgico radical possível. Em casos selecionados, em que o tumor não envolve o feixe neurovascular, uma alternativa para preservar o membro é o procedimento de Tikhoff-Linberg. Apesar de uma taxa de complicações global elevada, este procedimento provou ser uma arma cirúrgica valiosa no tratamento de tumores extensos da região do ombro, com a vantagem de um resultado funcional superior à amputação.
Este trabalho reflete a nossa experiência com uma técnica cirúrgica exigente e que proporcionou a dois doentes um resultado funcional bastante satisfatório, após serem confrontados com a hipótese de amputação, não comprometendo, no entanto, a sua sobrevida ou progressão da doençaThe majority of patients with soft tissue or bone sarcomas of the upper extremity can be treated today with limb-saving procedures using combined modality therapies. For patients with a tumor of the shoulder area, sometimes an interscapulothoracic amputation is the only radical surgical treatment. In selected cases, in which the tumor does not involve the neurovascular bundle, the Tikhoff-Linberg procedure is a limb sparing surgical option to be considered. Despite the high complication rate, this procedure has proven to be valuable in treating large tumors of shoulder area, with better functional results than amputation.
This work reflects our experience, of treating two patients with a demanding technique, that allowed for limb preservation, with acceptable functional results, not compromising their survival or disease progression.info:eu-repo/semantics/publishedVersio
A Nova Formulação de Calcipotriol/Dipropionato de Betametasona em Espuma Cutânea para o Tratamento da Psoríase
Get PDFABSTRACT – Psoriasis is a chronic, inflammatory, immune-mediated, potentially disfiguring and disabling skin disorder, affecting over 100 million individuals worldwide. Calcipotriol plus betamethasone fixed-combination (0.005% Cal/0.064% BD) is the recommended topical treatment for psoriasis. However, topical treatments are associated to lack of efficacy and low adhesion rates due to poor cosmetic characteristics’ formulations, and vehicle issues. To answer the need for improving patients’ acceptability and adherence, an innovative Cal/BD aerosol foam formulation was developed for the topical treatment of adults with plaque psoriasis. Phase II and III clinical trials have consistently shown that the two-compound formulation is more effective and safer than its individual ingredients in the same vehicle. Cal/BD aerosol foam formulation has proved higher efficacy in clinical studies, and a pooled analysis of the main clinical studies has demonstrated that this does not occur at the safety profile expense. Furthermore Cal/BD aerosol foam has shown a significantly improved efficacy compared with more traditional formulations, such as ointments, gels, and lotions. The improved efficacy and safety profile of this new formulation, together with the once-daily treatment, a moreacceptable tolerability profile, and an early and rapid response, offers improved convenience and better acceptance over the twice--daily applications required for the respective monotherapies, which may improve adherence to treatment, leading to faster and greater improvements in HR-QoL, representing a useful therapeutic option to the management of patients with plaque psoriasis. Further clinical investigations to explore the possibility of Cal/BD aerosol foam treatment ability to provide long-term psoriasis’ management are required.info:eu-repo/semantics/publishedVersio