Browsing by Author "Faria, M."
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- Aspergillus Species and Antifungals Susceptibility in Clinical Setting in the North of Portugal: Cryptic Species and Emerging Azoles Resistance in A. fumigatusPublication . Pinto, E.; Monteiro, C.; Maia, M.; Faria, M.; Lopes, V.; Lameiras, C.; Pinheiro, D.Aspergillus spp. are agents of a broad-spectrum of diseases among humans. Their growing resistance to azoles, the cornerstone in the management of human aspergillosis, is a worrisome problem around the world. Considering lack of data from Portugal on this topic, particularly from the northern region, a retrospective surveillance study was planned to assess frequency of cryptic Aspergillus species and azoles resistance. A total of 227 clinical isolates, mainly from the respiratory tract (92.1%), collected from three hospitals serving a population of about three million people, were studied for their epidemiology and antifungal susceptibility patterns determined by the E.DEF.9.3 protocol of EUCAST. Employing molecular methods, seven Aspergillus complexes were identified; Aspergillus fumigatus sensu stricto was the most frequent isolate (86.7%). A 7.5% prevalence of cryptic species was found; A. welwitschiae (A. niger complex-3.1%) and A. lentulus (A. fumigatus complex-2.2%) were the most frequent. Amongst cryptic species, it was found a percentage of resistance to voriconazole, posaconazole and isavuconazole of 47.1, 82.4, and 100%, respectively. Five A. fumigatus sensu stricto showed pan-azole resistance. Sequencing their cyp51A gene revealed the presence of one isolate with TR46/Y121F/T289A mutation and two isolates with TR34/L98H mutation. This study emphasizes the need to identify strains to the species level and to evaluate their antifungal susceptibility in all human originated Aspergillus spp. isolates, particularly those from invasive aspergillosis.
- Atypical haemolytic-uraemic syndrome caused by factor H mutation: case report and new management strategies in childrenPublication . Araújo, L.; Faria, M.; Rocha, L.; Costa, T.; Barbot, J.; Mota, C.Atypical haemolytic uraemic syndrome is causedby alternative complement pathway dysregulation. It has recently been recognised that most cases are due to genetic factors and a growing list of mutations has been described. Atypical haemolytic uraemic syndrome is associated with a dismal prognosis, a relapsing course, high acute mortality and frequent progression to end-stage renal disease. We describe a five-year-old boy admitted with a first recurrence of atypical haemolytic uraemic syndrome. The primary onset of the disease was at 15 months of age, following which there was complete recovery of haematological and renal parameters. His family history was significant in that his mother had died at the age of only 23 years of a stroke with associated thrombotic microangiopathy, suggesting a familial form of the disease. Sequencing of the gene encoding complement factor H revealed a heterozygous SCR20 mutation (3644G>T, Arg1215Leu), confirming the diagnosis. The patient was successfully treated with fresh frozen plasma infusions that induced disease remission. We also review currently evolving concepts about atypical haemolytic uraemic syndrome caused by factor H mutation, its diagnosis, the role of genetic testing and management strategies in children.
- Biópsia Renal Percutânea: experiência de oito anosPublication . Castro, R.; Sequeira, M.; Faria, M.; Belmira, A.; Sampaio, S.; Roquete, P.; Silvestre, F.; Rocha, C.; Morgado, T.A biópsia renal constitui um instrumento fundamental para o diagnóstico e prognóstico de diversas patologias nefrológicas e sistémicas. No nosso Hospital a sua realização iniciou-se em 1994, tendo sido biopsado um doente com Doença de Berger. Até à data foram efectuadas 91 biópsias renais percutâneas com a seguinte distribuição anual: 1994 (n=3), 1995 (n=3), 1996 (n=3), 1997 (n=15), 1998 (n=5), 1999 (n=23), 2000 (n=13), 2001 (n=26) em 57 homens e 34 mulheres. Foi utilizada orientação ecográfica e na maioria dos casos a agulha de Vim Silverman (14G). Apenas em cinco casos se utilizou uma pistola automática BARD. Era nosso objectivo, em cada biópsia, a colheita de pelo menos dois fragmentos, um para microscopia óptica e outro para imunoflurescência. Os grandes síndromas nefrológicos que conduziram a este exame foram: síndroma nefrótico (n=27), anormalidades urinárias assintomáticas (n=25), insuficiência renal aguda ou rápidamente progressiva (n=18), insuficiência renal crónica (n=15), hipertensão arterial (n=4) e glomerulonefrite aguda (n=2). Em 92.3% (84/91) dos casos foi possível efectuar um diagnóstico histológico por microscopia óptica. Se considerarmos, no entanto, sete casos com suspeita clínica de nefropatia IgA em que o fragmento colhido para imunoflurescência não continha glomérulos, a eficácia diminuiu para 84.6% (77/91). O número médio de glomérulos por amostra foi de 18.3 ± 14.2 [0-80]. Os diagnósticos histológico obtidos foram os seguintes: doença de Berger (n=24), diversas formas de síndroma nefrótico primário (n=18), nefrite lúpica (n=8), glomerulonefrite mesangioproliferativa, sem glomérulos na imunoflurescência (n=6), ausência de tecido renal ou de glomérulos nas amostras (n=6), síndroma nefrótico secundário (n=4), nefrite túbulo-intersticial ou necrose tubular aguda (n=4), nefropatia diabética (n=3), rim de mieloma (n=3), glomerulonefrite crescêntica sem depósitos imunes (n=3), nefroangiosclerose hipertensiva (n=2), glomerulonefrite mesangioproliferativa IgM (n=2) e outros (n=8). A hematúria macroscópica revelou-se como a complicação mais frequente (n=9; 9.9%). Apenas em três casos se verificou a existência de hematoma renal ecograficamente (3.3%). A saída de sangue pelo mandril da agulha de biópsia surgiu em quatro casos (4.4%) e foi necessário proceder à transfusão de concentrado de glóbulos rubros em três doentes (3.3%). Registamos uma punção acidental de baço. Em nenhum caso foi necessário efectuar nefrectomia por hemorragia incontrolável. Identificamos, como índices de mau prognóstico relativamente à evolução para insuficiência renal crónica avançada (n=2) ou terminal (n=15), o maior número de glomérulos esclerosados (30% vs 8%; p<0.01) e de lesões túbulo-intersticiais (100% vs 63%; p<0.01). Em conclusão, a biópsia renal efectuada com orientação ecográfica permitiu a obtenção 21 de amostras com valor diagnóstico em 84.6% dos casos. A taxa de complicações foi relativamente baixa comparando com outras séries. Verificamos um progressivo aumento de qualidade das amostras renais colhidas, em relação directa com uma coordenação técnica crescente entre os nefrologistas e radiologistas intervenientes.nephrological and systemic pathologies. At our institution the first patient submitted to this technique, at 1994, showed Berger disease. Until 2002 we have performed 91 renal biopsies (57 men and 34 women) with the following annual distribution: 1994 (n=3), 1995 (n=3), 1996 (n=3), 1997 (n=15), 1998 (n=5), 1999 (n=23), 2000 (n=13) and 2001 (n=26). Ultrasound guidance was always used and in most of cases the technique was performed with Vim-Silverman (14G) needle. BARD automatic system was employed in only five patients. The clinical diagnosis that lead to renal biopsy were: nephrotic syndrome (n=27), asyntomatic urinary abnormalities (n=25), acute or rapidly progressive renal failure (n=18), chronic renal failure (n=15), hypertension (n=4) and acute nephritis (n=2). The efficacy for optic histological diagnosis was 92.3% (84/91). However, if we include seven cases of presumed IgA nephropathy that don’t included fragment for immunofluorescence (IF) analysis the efficacy declined to 84.6% (77/91). The mean number of glomeruli per fragment was 18.3 ± 14.2 [0-80]. Histological diagnosis were the following: Berger disease (n=24), idiopathic nephrotic syndrome (n=18), lupus nephritis (n=8), mesangial proliferative glomerulonephritis without glomeruli in the IF fragment (n=6), without glomeruli (n=6), secondary nephrotic syndrome (n=4), tubulointerstitial nephritis or acute tubular necrosis (n=4), diabetic nephropathy (n=3), myeloma kidney (n=3), pauci-imune and crescentic glomerulonephritis (n=3), hypertensive nephropathy (n=2), IgM mesangial proliferative glomerulonephritis (n=2) and various (n=8). Gross hematuria appeared in 9 patients (9.9%). Only in three of these patients it was showed, by ecography, the existence of kidney haematoma. Bleeding throughout the mandrill in four cases, leaded to transfusion in only three patients. We have registered one accidental spleen puncture. Nephrectomy for incontrollable bleeding was never needed. Higher glomerulosclerosis (30% vs 8%; p<0.01) and also a greater extent of tubulointersticial lesions (100% vs 63%; p<0.01), were predictors of progression into end-stage or advanced renal failure. Concluding, renal biopsy with ultrasound guidance was valuable for diagnosis in 84.6% of our proceedings. Our serie is similar to others concerning serious complications. Nephrologists and radiologists improved progressively their coordination performing this technique, improving the results during this period of 8 years.
- Corpus cavernosum from men with vasculogenic impotence is partially resistant to adenosine relaxation due to endothelial A(2B) receptor dysfunctionPublication . Faria, M.; Cardoso, T.; Lafuente-de-Carvalho, J.; Sá, P.ABSTRACT Although adenosine has been implicated in penile erection in human males, the receptor subtype responsible for adenosine regulation of human corpus cavernosum (HCC) smooth muscle tone is still a matter of debate. Using selective adenosine agonists and antagonists, we aimed at characterizing the adenosine receptors mediating relaxation of precontracted (with 1 M phenylephrine) HCC strips. HCC specimens were collected from control subjects (organ donors) and from patients with severe vasculogenic erectile dysfunction (ED). In control subjects, adenosine and 5 -N-ethyl-carboxamide adenosine (NECA) fully relaxed HCC. The selective A2A receptor agonist 2-[4-(2-p-carboxy ethyl)phenylamino]-5 -N-ethylcarboxamido adenosine (CGS21680C) produced only a partial relaxation (30–50%) of HCC, which could be further enhanced by simultaneous application of 100 M NECA. The selective A2B receptor antagonist N-(4-acetylphenyl)-2-[4-(2,3,6,7-tetrahydro- 2,6-dioxo-1,3-dipropyl-1H-purin-8-il)phenoxy] acetamida (MRS1706) (10 nM) attenuated NECA-induced relaxation without affecting CGS21680C action. The A2A receptor antagonist 4-{2-[7-amino-2-(2-furyl)[1,2,4]triazolo-[2,3-a][1,3,5]triazin-5- ylamino]ethyl}phenol (ZM241385) (50 nM) consistently reduced the actions of both agonists. In contrast to CGS21680C, NECAinduced relaxation was attenuated when endothelial production of NO and prostanoids was reduced by 100 M NG-nitro-Larginine and 10 M indomethacin, respectively. HCC strips from patients with vasculogenic ED were partially resistant to NECA but kept relaxation to CGS21680C; the remaining effect was sensitive to blockade of A2A receptors with 50 nM ZM241385. Data suggest that adenosine regulates HCC smooth muscle tone through the activation of two receptor populations, CGS21680C-sensitive (A2A) and -insensitive (A2B) receptors, located on smooth muscle fibers and on endothelial cells, respectively. Endothelial dysfunction may be correlated with a loss of adenosine A2B receptor activity in penile vessels from men with vasculogenic ED.
- Haemolytic uraemic syndrome, cardiomyopathy, cutaneous vasculopathy and anti-phospholipid activityPublication . Faria, M.; Mota, C.; Barbot, J.; Alvares, S.; Jardim, H.; Vilarinho, A.; Pereira, E.
- Nephrogenic diabetes insipidus associated with tenofovir administration: report of a paediatric casePublication . Costa, M.; Teixeira, C.; Costa, A.; Faria, M.; Mota, C.; Marques, L.Tenofovirrenal toxicity, particularly when associated with other antiretrovirals, has been reported in the adult HIV-positive population. Reports in HIVpositive children are very rare. The authors report a paediatric case of nephrotoxicity associated with tenofovir and didanosine, emtricitabine and lopinavirritonavir coadministration. A 12-year-old girl with AIDS (clinical stage C) with a multidrug-resistant virus and several treatment failures initiated emtricitabine, tenofovir, didanosine and lopinavir-ritonavir in 2008 with good tolerance. Her viral load became undetectable and CD4 count normal. Two years later she presented generalized weakness, polydipsia and polyuria. On physical examination dehydration was evident. Her vital signs were stable. She had lost 5% of her body weight in the previous week. Urinalysis revealed a urine gravity of 1000, osmolality 150 mOsm/Kg and no proteinuria or glucosuria. Blood analysis showed osmolality 289 mOsm/Kg, normal values of glucose, creatinine, urea, sodium, potassium, chloride and calcium. A water restriction test followed by desmopressin administration confirmed the diagnosis of nephrogenic diabetes insipidus. Tenofovir and didanosine were stopped and abacavir was added. The patient was treated with a thiazide diuretic and salt restriction. There was good clinical evolution and no relapses. This case highlights important possible side effects of tenofovir and emphasises the need for further studies into the renal safety of this agent in paediatric patients.
- Tromboembolismo pulmonar no síndrome nefrótico associado a trombofiliaPublication . Pereira, J.; Leite, F.; Pio, D.; Morais, L.; Costa, T.; Faria, M.; Barbot, J.; Mota, C.Introdução: As crianças com síndrome nefrótico (SN) têm um risco aumentado de complicações tromboembólicas. Caso clínico: Adolescente de 12 anos, sexo masculino, com síndrome nefrótico corticorresistente, medicado com prednisolona, ciclosporina, omeprazol, enalapril e ácido acetilsalicílico. Internado por quadro clínico de anasarca e oligúria com boa resposta clínica inicial à perfusão diária de albumina. Ao quarto dia de internamento iniciou febre, toracalgia, expectoração hemoptoica e agravamento da dispneia. Realizou angiografia pulmonar por tomografia computorizada que demonstrou tromboembolismo pulmonar agudo central e periférico, com múltiplas áreas de enfarte pulmonar e derrame pleural de pequeno volume. O rastreio de trombofilias hereditárias demonstrou heterozigotia para a mutação G20210A do gene da protrombina e homozigotia para a variante termolábil C677T do gene da metilenotetrahidrofolato reductase. Conclusão: As complicações tromboembólicas nas crianças com SN são raras e o seu diagnóstico implica um elevado índice de suspeição. O rastreio da trombofi lia hereditária é importante na identificação de doentes com síndrome nefrótico com risco trombótico acrescido. ABSTRACT Introduction: Children with nephrotic syndrome (NS) have an increased risk of thromboembolic complications. Case report: The authors report a case of 12 year-old boy with steroid resistant nephrotic syndrome, treated with prednisone, cyclosporine, omeprazole, enalapril and acetylsalicylic acid. He was admitted for anasarca and poor renal perfusion, with initial good response to daily albumin infusions. By the fourth day of hospitalization he presented fever, chest pain, hemoptysis and worsening of dyspnea. Computed tomography pulmonary angiography showed central and peripheral acute pulmonary thromboembolism, with multiple areas of pulmonary infarction and pleural effusion of small volume. Screening for hereditary thrombophilia showed heterozygosity for the G20210A mutation in prothrombin gene and homozygosity for the thermolabile variant C677T of the methylenetetrahydrofolate reductase. Conclusion: The thromboembolic complications in children with NS are rare and its diagnosis requires a high index of suspicion. Screening for inherited thrombophilia is important to identify patients with NS and increased thrombotic risk.