Últimos itens adicionados do Acervo: Centro Hospitalar do Porto

O CHP é um hospital central e universitário pela sua associação ao Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto.

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‣ Gradenigo syndrome: an unexpected otitis complication

Mendes, Catarina; Garrido, Cristina; Guedes, Margarida; Marques, Laura
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
Introduction: Gradenigo syndrome (also known as apical petrositis) is a clinical triad of otitis media, trigeminal neuralgia and ipsilateral abducens nerve palsy. In the era of antibiotic therapy, it is an exceptional but potentially life threatening complication of acute otitis media, requiring prompt diagnosis and treatment. Case report: A seven-year-old girl with previous history of otitis, presented with left ear pain, headache, diplopia and fever. Diagnosis of Gradenigo syndrome was established and she was treated with systemic broad-spectrum antibiotics and myringotomy with timpanostomy tube placement. Clinical outcome was favourable. Conclusion: This case documents therapeutic success and total recovery with a conservative approach in an immunocompetent child with Gradenigo syndrome.; Introdução: O síndrome Gradenigo (também conhecido como petrosite apical) é uma tríade clínica definida por otite média, nevralgia do trigémeo e parésia ipsilateral do nervo abducente. Desde o advento da antibioterapia, passou a ser uma complicação rara da otite média aguda mas potencialmente fatal, requerendo diagnóstico e tratamento atempados. Caso clínico: Criança do sexo feminino, com sete anos de idade e história prévia de otite...

‣ Abordagem da glicosúria renal na criança: a propósito de um caso clínico

Pais, Patrícia; Reis, Filipa; Fraga, Sofia; Ferreira, Maria Gomes; Amaral, Rosário
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
Introduction: The accidental finding of glycosuria should lead to the exclusion of diabetes mellitus. In the absence of hyperglycemia, glycosuria is probably of renal origin. It can be isolated, as in familiar renal glycosuria, or it can be part of a hereditary tubular disorder such as Fanconi-Bickel syndrome or associated with an acquired tubular dysfunction. The renal and tubular function should be investigated. Case report: The authors describe the case of a previously healthy five-year old child with persistent glycosuria of renal cause. The investigation showed the coexistence of elevated renal excretion of glycine. Discussion: Familiar renal glycosuria and hyperglycinuria are caused by genetic defects in different renal tubular membrane transporters. The rare association of glycosuria and glycinuria was only described in one family in the 1960’s. The authors discuss the possible pathophysiologic mechanisms of this association and the importance of studying other tubulopathies in a child with glycosuria as it has prognostic and clinical management implications.; Introdução: A deteção ocasional de glicosúria obriga à exclusão de diabetes mellitus. Na ausência de hiperglicemia deve considerar-se glicosúria de causa renal...

‣ Causa moderna de uma dermatose antiga – Eritema ab igne

Ferreira, Sara; Mota, Lourdes; Tellechea, Óscar; Figueiredo, Nuno; Mascarenhas, Rosa
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
ermatosis, caused by prolonged and repeated exposure to heat. Multiple heat sources have been reported to cause this condition, as fire or stove in proximity with the skin. Case report: We report a case of a diabetic teenager with erythema ab igne induced by a laptop computer. Conclusions: Laptop induced erythema ab igne is an underdiagnosed clinical entity. In the future maybe it will be more frequent due to the improper use of these devices. The possible irreversibility of skin lesions and the potential severe complications reinforce the need to be aware for this disease.; Introdução: O eritema ab igne é uma dermatose rara, caracterizada por lesões reticuladas hiperpigmentadas, secundárias a uma exposição prolongada e repetida ao calor. Múltiplas fontes de calor podem estar na sua génese, classicamente as “braseiras”, quando em proximidade com a pele. Caso clínico: Descreve-se o caso clínico de um adolescente diabético com eritema ab igne atípico, por ter sido induzido por um computador portátil. Conclusão: O eritema ab igne induzido pelo computador portátil é uma entidade clínica pouco conhecida, provavelmente subdiagnosticada. Prevê-se um aumento do número de casos nos próximos anos devido ao uso desadequado destes dispositivos. A possível irreversibilidade das lesões cutâneas e a gravidade das potenciais complicações reforçam a necessidade de estar alerta para esta patologia.

‣ Transfusão feto-fetal – sobrevivente policitémico

Dias, Joana; Fraga, José; Branco, Susana; Monteiro, Tânia; Carvalho, Carmen; Alexandrino, Ana Margarida
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
Introduction: Twin-twin transfusion syndrome (TTTS) is associated with the death of one or both foetuses, particularly if diagnosed before 28 weeks’ gestation. Sudden deteriorations can occur, leading to death of the cotwin and neurological handicap in the survivor. Case Report: We report a case of polycythemia in the recipient twin of a pregnancy with TTTS. Laser photocoagulation of placental anastomoses was performed successfully at 18 weeks. Follow-up showed resolution of signs of TTTS on ultrasound examination. Caesarean section at 33 weeks due to foetal death of donor twin, the recipient twin demonstrated symptomatic polycythemia (hematocrit 70%). Partial exchange transfusion (PET) was performed twice in the first 12 hours. Normal hematocrit levels were achieved without complication. Perinatal outcome was good. Conclusion: Despite the prognosis improvement after laser photocoagulation of placental anastomoses, perinatal mortality and morbidity remains height.; Introdução: A Síndrome de transfusão feto-fetal (STFF) é uma doença cardiovascular complexa que afeta gestações gemelares monocoriónicas. As gestações complicadas pela STFF antes das 28 semanas estão associadas a um risco elevado de perda fetal...

‣ Caso cirúrgico: pénis oculto

Monteiro, Maria Inês; Monteiro, Joaquim
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
The buried penis is an unusual anomaly, whose etiology is not fully understood. The fascia Dartos is not developed to its normal elastic configuration that would allow the free sliding of the skin over the deeper layers of the penis. These non-elastic fibers retract the extension of the penis, which has an appropriate length. Other conditions that promote the hidden penis: deficit of penile skin, abnormal adhesion of the tunica albuginea to the Buck fascia, excessive pre-pubic fat. Among complications associated we found recurrent balanitis. The Paediatricians must diagnose and guide early. It is a benign disease and the surgery is justified, with excellent outcome, immediate results and few complications.

‣ Caso dermatológico: tinha do corpo

Vilaça, Susana; Carvalho, Sandrina; Sanches, Madalena; Selores, Manuela
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
Tinea corporis is a dermatophyte infection of the body. It usually begins as a pruritic circular or oval erythematous scaling patch or plaque that spreads centrifugally. Multiple lesions may run together to produce “flower petal” configurations. Tinea corporis contracted from infected animals is often intensely inflammatory. The history and clinical picture combination is characteristic, but the diagnosis could be confirmed by KOH (potassium hydroxide) examination of scrapings from the lesions. Tinea corporis usually responds to the daily application of topical antifungals, but systemic therapy is needed in patients who have failed topical therapy. We report a case of a two-year old girl with tinea corporis of the vulvar region, initially misdiagnosed as irritant diaper dermatitis.

‣ Caso endoscópico: esofagite péptica

Pereira, Fernando
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
We present the case of a 18-year-old female patient with dyspeptic complaints lasting for three months, that relieved with inhibition of gastric acid secretion. She had a past history (two years before) of laparoscopic gastric banding for morbid obesity with therapeutic success two years before. Upper endoscopy showed mild distal esophagitis and proximal displacement of the gastric band.

‣ Caso radiológico: Imagem artefactual causada pela sobreposição dos cabelos compridos.

Macedo, Filipe
Fonte: Nascer e Crescer Publicador: Nascer e Crescer
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
We present a case of a 14-year-old girl with fever and cough in whom the chest x-ray revealed a bizarre density over the upper two thirds of the left lung. It was due to the superimposed long hair hanging on her back. Artefacts images must systematically be suspected specially when being of strange shapes.

‣ High-Sensitivity Troponin T: A Biomarker for Diuretic Response in Decompensated Heart Failure Patients

Ferreira, J.P.; Santos, M.; Almeida, S.; Marques, I; Bettencourt, P.; Carvalho, H.
Fonte: Hindawi Publishing Corporation Publicador: Hindawi Publishing Corporation
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Patients presenting with acutely decompensated heart failure (ADHF) and positive circulating cardiac troponins were found to be a high-risk cohort. The advent of high-sensitive troponins resulted in a detection of positive troponins in a great proportion of heart failure patients. However, the pathophysiological significance of this phenomenon is not completely clear. Objectives. The aim of this study is to determine the early evolution and clinical significance of high-sensitivity troponin T (hsTnT) in ADHF. Methods. Retrospective, secondary analysis of a prospective study including 100 patients with ADHF. Results. Globally, high-sensitivity troponin T decreased from day 1 to day 3 (

‣ Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

Oliveira, J.; Oliveira, M.; Kress, W.; Taipa, R.; Melo-Pires, M.; Hilbert, P.; Baxter, P.; Santos, M.; Buermans, H.; den Dunnen, J.; Santos, R.
Fonte: Karger Publicador: Karger
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin - a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulator of intermediate filaments. We report the development of a locus-specific database for MTM1 using the Leiden Open Variation database software (http://www.lovd.nl/MTM1), with data collated for 474 mutations identified in 472 patients (by June 2012). Among the entries are a total of 25 new mutations, including a large deletion encompassing introns 2-15. During database implementation it was noticed that no large duplications had been reported. We tested a group of eight uncharacterized CNM patients for this specific type of mutation, by multiple ligation-dependent probe amplification (MLPA) analysis. A large duplication spanning exons 1-5 was identified in a boy with a mild phenotype, with results pointing toward possible somatic mosaicism. Further characterization revealed that this duplication causes an in-frame deletion at the mRNA level (r.343_444del). Results obtained with a next generation sequencing approach suggested that the duplication extends into the neighboring MAMLD1 gene and subsequent cDNA analysis detected the presence of a MTM1/MAMLD1 fusion transcript. A complex rearrangement involving the duplication of exon 10 has since been reported...

‣ Management of von Willebrand disease type 3 during pregnancy - 2 cases reports.

Inocêncio, G.; Braga, A.; Azevedo, S.; Buchner, C
Fonte: Verduci Publicador: Verduci
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
BACKGROUND: von Willebrand disease type 3, is an extremely rare condition. It can be severe and potentially life-threatening, particularly in pregnant women during labor and subsequently during early puerperium. Due to its rarity, there is no optimal treatment/management during pregnancy. CASE: We describe two cases of pregnant women with von Willebrand disease type 3, and its successful surveillance and treatment with Haemate P FVIII (human plasma-derived von Willebrand Factor-ristocetin co-factor associated with human coagulation factor VIII), during pregnancy, partum and puerperium. CONCLUSIONS: Daily prophylaxis with Haemate P FVIII in women with von Willebrand disease type 3, starting 2 hours before caesarean section until the 7th day of puerperium, associated with close analytical and clinical surveillance seems to be a safe clinical option.

‣ Tumor regression grades: can they influence rectal cancer therapy decision tree?

Santos, M.; Silva, C.; Rocha, A.; Matos, E.; Nogueira, C.; Lopes, C.
Fonte: Hindawi Publishing Corporation Publicador: Hindawi Publishing Corporation
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
BACKGROUND: Evaluating impact of tumor regression grade in prognosis of patients with locally advanced rectal cancer (LARC). MATERIALS AND METHODS: We identified from our colorectal cancer database 168 patients with LARC who received neoadjuvant therapy followed by complete mesorectum excision surgery between 2003 and 2011: 157 received 5-FU-based chemoradiation (CRT) and 11 short course RT. We excluded 29 patients, the remaining 139 were reassessed for disease recurrence and survival; the slides of surgical specimens were reviewed and classified according to Mandard tumor regression grades (TRG). We compared patients with good response (Mandard TRG1 or TRG2) versus patients with bad response (Mandard TRG3, TRG4, or TRG5). Outcomes evaluated were 5-year overall survival (OS), disease-free survival (DFS), local, distant and mixed recurrence. RESULTS: Mean age was 64.2 years, and median followup was 56 months. No statistically significant survival difference was found when comparing patients with Mandard TRG1 versus Mandard TRG2 (p = .77). Mandard good responders (TRG1 + 2) have significantly better OS and DFS than Mandard bad responders (TRG3 + 4 + 5) (OS p = .013; DFS p = .007). CONCLUSIONS: Mandard good responders had a favorable prognosis. Tumor response (TRG) to neoadjuvant chemoradiation should be taken into account when defining the optimal adjuvant chemotherapy regimen for patients with LARC

‣ Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy

Coelho, T.; Maia, L.; Martins-Silva, A.; Cruz, M.; Planté-Bordeneuve, V.; Suhr, O.; Conceição, I.; Schmidt, H.; Trigo, P.; Kelly, J.; Labaudinière, R.; Chan, J.; Packman, J.; Grogan, D.
Fonte: Springer-Verlag Publicador: Springer-Verlag
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
Tafamidis, a transthyretin (TTR) kinetic stabilizer, delayed neuropathic progression in patients with Val30Met TTR familial amyloid polyneuropathy (TTR-FAP) in an 18-month randomized controlled trial (study Fx-005). This 12-month, open-label extension study evaluated the long-term safety, tolerability, and efficacy of tafamidis 20 mg once daily in 86 patients who earlier received blinded treatment with tafamidis or placebo. Efficacy measures included the Neuropathy Impairment Score in the Lower Limbs (NIS-LL), Norfolk Quality of Life-Diabetic Neuropathy total quality of life (TQOL) score, and changes in neurologic function and nutritional status. We quantified the monthly rates of change in efficacy measures, and TTR stabilization, and monitored adverse events (AEs). Patients who continued on tafamidis had stable rates of change in NIS-LL (from 0.08 to 0.11/month; p = 0.60) and TQOL (from -0.03 to 0.25; p = 0.16). In patients switched from placebo, the monthly rate of change in NIS-LL declined (from 0.34 to 0.16/month; p = 0.01), as did TQOL score (from 0.61 to -0.16; p < 0.001). Patients treated with tafamidis for 30 months had 55.9 % greater preservation of neurologic function as measured by the NIS-LL than patients in whom tafamidis was initiated later. Plasma TTR was stabilized in 94.1 % of patients treated with tafamidis for 30 months. AEs were similar between groups; no patients discontinued because of an AE. Long-term tafamidis was well tolerated...

‣ Treat to target: temporomandibular joint (TMJ) arthritis in children with juvenile idiopathic arthritis (JIA) – experience of Centro Hospitalar do Porto

Nascimento, J.; Zilhão, C.; Pinto, A.; Miranda, C.; Monteiro, C.; Guedes, M.
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Conferência ou Objeto de Conferência
Publicado em //2014 Português

‣ Juvenile systemic sclerosis: review of 15 patients

Sousa, S.; Fernandes, S.; Estanqueiro, P.; Zilhão, C.; Resende, C.; Ramos, F.; Salgado, M.; Guedes, M.; Gomes, J.; Santos, M.
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Conferência ou Objeto de Conferência
Publicado em //2014 Português

‣ Raynaud and digital ulcers in patients with juvenile systemic sclerosis: ambulatory iloprost protocol. A single center experience

Guedes, M.; Zilhão, C.; Almeida, I.; Silva, I:
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Conferência ou Objeto de Conferência
Publicado em //2014 Português

‣ Drug package as a cause of gastric outlet obstruction

Küttner-Magalhães, R.; Moreira, T.; Pimentel, R.; Caetano, C.
Fonte: Thieme Publicador: Thieme
Tipo: Artigo de Revista Científica
Publicado em //2012 Português

‣ Bilateral proliferative retinopathy as the initial presentation of chronic myeloid leukemia.

Macedo, M.; Figueiredo, A.; Ferreira, N.; Barbosa, I.; Furtado, M.; Correia, N.; Gomes, M.; Lume, M.; Menéres, M.; Santos, M.; Meireles, M.
Fonte: Medknow Publications and Media Publicador: Medknow Publications and Media
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
The authors report a rare case of a 48-year-old male with chronic myeloid leukemia (CML) who initially presented with a bilateral proliferative retinopathy. The patient complained of recent visual loss and floaters in both eyes (BE). Ophthalmologic evaluation revealed a best corrected visual acuity (BCVA) of 20/50 in the right eye and 20/200 in the left eye (LE). Fundoscopy showed the presence of bilateral peripheral capillary dropout with multiple retinal sea fan neovascularisations, which were confirmed on fluorescein angiography. Full blood count revealed hyperleukocytosis, thrombocytosis, anemia, and hyperuricemia. Bone marrow aspiration and biopsy showed the reciprocal chromosomal translocation t (9;22), diagnostic of CML. The patient was started on hydroxyurea, allopurinol and imatinib mesylate. He received bilateral panretinal laser photocoagulation and a vitrectomy was performed in the LE. The patient has been in complete hematologic, cytogenetic, and major molecular remission while on imatinib and his BCVA is 20/25 in BE.

‣ Aggressive mature natural killer cell neoplasms: from epidemiology to diagnosis

Lima, M.
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
Mature natural killer (NK) cell neoplasms are classified by the World Health Organization into NK/T cell lymphoma, nasal type (NKTCL), aggressive NK-cell leukemia (ANKCL) and chronic lymphoproliferative disorders of NK-cells, the latter being considered provisionally. NKTCL and ANKCL are rare diseases, with higher prevalence in Asia, Central and South America. Most NKTCL present extranodal, as a destructive tumor affecting the nose and upper aerodigestive tract (nasal NKTCL) or any organ or tissue (extranasal NKTCL) whereas ANKCL manifests as a systemic disease with multiorgan involvement and naturally evolutes to death in a few weeks. The histopathological hallmark of these aggressive NK-cell tumors is a polymorphic neoplastic infiltrate with angiocentricity, angiodestruction and tissue necrosis. The tumor cells have cytoplasmatic azurophilic granules and usually show a CD45+bright, CD2+, sCD3-, cytCD3epsilon+, CD56+bright, CD16−/+, cytotoxic granules molecules+ phenotype. T-cell receptor genes are in germ-line configuration. Epstein-Barr virus (EBV) -encoded membrane proteins and early region EBV RNA are usually detected on lymphoma cells, with a pattern suggestive of a latent viral infection type II. Complex chromosomal abnormalities are frequent and loss of chromosomes 6q...

‣ Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Couce, M.; Sánchez-Pintos, P.; Diogo, L.; Leão-Teles, E.; Martins, E.; Santos, H.; Amor Bueno, M.; Delgado-Pecellín, C.; Castiñeiras, D.; Cocho, J.; García-Villoria, J.; Ribes, A.; Fraga, J.; Rocha, H
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
Background Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients. Methods We carried out a multicenter study in southwest Europe, of MCADD patients detected by NBS. Evaluated NBS data included free carnitine (C0) and the acylcarnitines C8, C10, C10:1 together with C8/C2 and C8/C10 ratios, clinical presentation parameters and genotype, in 45 patients. Follow-up data included C0 levels, duration of carnitine supplementation and occurrence of metabolic crises. Results C8/C2 ratio and C8 were the most accurate biomarkers of MCADD in NBS. We found a high number of patients homozygous for the prevalent c.985A > G mutation (75%). Moreover, in these patients C8, C8/C10 and C8/C2 were higher than in patients with other genotypes, while median value of C0 was significantly lower (23 μmol/L vs 36 μmol/L). The average follow-up period was 43 months. To keep carnitine levels within the normal range...