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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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‣ Quando as saquetas se confundem – ingestão de cloridrato de benzidamina; WHEN THE SACHETS GET MIXED-UP – BENZYDAMINE HYDROCHLORIDE INGESTION

Dias, Ana Lopes; Pereira, Helena; Soares, Joana; Campos, Teresa; Quaresma, Márcia
Fonte: Centro Hospitalar do Porto Publicador: Centro Hospitalar do Porto
Tipo: Artigo de Revista Científica
Publicado em /09/2015 Português
Introdução: O cloridrato de benzidamina é um anti-inflamatório não esteróide com propriedades analgésicas, antipiréticas e antimicrobianas. Caso Clínico: Menino de 4 anos e 8 meses recorreu ao serviço de urgência por agitação psicomotora e alucinações vi- suais, com início cerca de 1 hora após a ingestão acidental de uma saqueta de 500 mg de cloridrato de benzidamina. Ao exa- me objetivo apresentava ataxia, tremor, abalos espasmódicos ocasionais, agitação psicomotora e alucinações visuais. Após lavagem gástrica e administração de carvão ativado, administrou-se haloperidol pelo quadro acentuado de agitação com alucinações visuais. Dada a possibilidade de ocorrência de asfixia por espasmo da musculatura respiratória, foi transferido para um hospital terciário. Apresentou evolução favorável, com alta ao 2º dia de internamento. Discussão: Alerta-se para o risco de confusão na via de administração de apresentações para uso tópico e oral. Sendo a principal manifestação o efeito alucinogénico, a ingestão acidental ou intencional de benzidamina deve ser considerada em quadros psicóticos agudos.

‣ Late differentiation syndrome in acute promyelocytic leukemia: a challenging diagnosis

Cabral, R.; Caballero, J.; Alonso, S.; Dávila, J.; Cabrero, M.; Caballero, D.; Vázquez, L.; Sánchez-Guijo, F.; López, L.; Cañizo, M.; Mateos, M.; González, M.
Fonte: PagePress Publicador: PagePress
Tipo: Artigo de Revista Científica
Publicado em 19/11/2014 Português
Detailed knowledge about differentiation syndrome (DS) has remained limited. There are 2 large studies conducted by the Spanish workgroup PETHEMA (Programa Español de Tratamientos en Hematología; Spanish Program on Hematology Treatments) and the European group trial (LPA 96-99 and APL 93) in which the incidence, characteristics, prognostic factors and outcome of patients developing DS are evaluated. Both have described the median time of DS development between 10 and 12 days. The severity of the DS has been evaluated in the study conducted by PETHEMA, and severe DS usually occurs at the beginning of the treatment (median of 6 days), as compared with moderate DS (median of 15 days). We report here in two cases of late severe DS, with late diagnosis due to both time and form of presentation. We discuss the physiopathology, clinical presentation, prophylaxis and treatment of DS.

‣ Perforated duodenal diverticulum: Surgical treatment and literature review

Costa Simões, V.; Santos, B.; Magalhães, S.; Faria, G.; Sousa Silva, D.; Davide, J.
Fonte: Elsevier B.V. Publicador: Elsevier B.V.
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Duodenum is the second most frequent location for a diverticulum in the digestive tract. Complications are rare and perforation was only reported in less than 200 cases. PRESENTATION OF CASE: A 79-year-old female was admitted to Emergency Department with abdominal pain and vomiting for the last 24h. A CT scan was performed and moderated extra-luminal air was identified. During surgery a fourth portion perforated duodenal diverticulum was diagnosed and duodenal resection was performed. DISCUSSION: First reported in 1710, the incidence of duodenal diverticula can be as high as 22%. Nevertheless complications are extremely rare and include haemorrhage, inflammation, compression of surrounding organs, neoplastic progression, cholestasis and perforation. As perforations are often retroperitoneal, symptoms are nonspecific and rarely include peritoneal irritation, making clinical diagnose a challenge. CT scan will usually present extra-luminal retroperitoneal air and mesenteric fat stranding, providing clues for the diagnosis. Although non-operative treatment has been reported in selected patients, standard treatment is surgery and alternatives are diverse including diverticulectomy or duodenopancreatectomy. CONCLUSION: Perforated diverticula of the fourth portion of the duodenum are extremely rare and current evidence still supports surgery as the primary treatment modality.

‣ Health-related quality of life and utilities in gastric premalignant conditions and malignant lesions: a multicentre study in a high prevalence country

Areia, M.; Alves, S.; Brito, D.; Cadime, A.; Carvalho, R.; Saraiva, S.; Ferreira, S.; Moleiro, J.; Pereira, A.; Carrasquinho, J.; Lopes, L.; Ramada, J.; Marcos-Pinto, R.; Pedroto, I.; Contente, L.; Eliseu, L.; Vieira, A.; Sampaio, M.; Sousa, H.; Almeida,
Fonte: Medical University Press Cluj, Romania Publicador: Medical University Press Cluj, Romania
Tipo: Artigo de Revista Científica
Publicado em /12/2014 Português
BACKGROUND AND AIMS: A recent review of economic studies relating to gastric cancer revealed that authors use different tests to estimate utilities in patients with and without gastric cancer. Our aim was to determine the utilities of gastric premalignant conditions and adenocarcinoma with a single standardized health measure instrument. METHODS: Cross-sectional nationwide study of patients undergoing upper endoscopy (n=1,434) using the EQ-5D-5L quality of life (QoL) questionnaire. RESULTS: According to EQ-5D-5L, utilities in individuals without gastric lesions were 0.78 (95% confidence interval: 0.76-0.80), with gastric premalignant conditions 0.79 (0.77-0.81), previously treated for gastric cancer 0.77 (0.73-0.81) and with present cancer 0.68 (0.55-0.81). Self-reported QoL according to the visual analogue scale (VAS) for the same groups were 0.67 (0.66-0.69), 0.67 (0.66-0.69), 0.62 (0.59-0.65) and 0.62 (0.54-0.70) respectively. Utilities were consistently lower in women versus men (no lesions 0.71 vs. 0.78; premalignant conditions 0.70 vs. 0.82; treated for cancer 0.72 vs. 0.78 and present cancer 0.66 vs. 0.70). CONCLUSION: The health-related QoL utilities of patients with premalignant conditions are similar to those without gastric diseases whereas patients with present cancer show decreased utilities. Moreover...

‣ Nonsteroidal anti-inflammatory drug (NSAID)-induced colopathy with diaphragm-like strictures

Küttner-Magalhães, R.; Ferreira, J.; Pedroto, I.
Fonte: Medical University Press Cluj, Romania Publicador: Medical University Press Cluj, Romania
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português

‣ The "ex vivo" patterns of CD2/CD7, CD57/CD11c, CD38/CD11b, CD45RA/CD45RO, and CD11a/HLA‐DR expression identify acute/early and chronic/late NK‐cell activation states.

LIMA, M.; ALMEIDA, J.; DOS ANJOS TEIXEIRA, M.; QUEIROS, M.L.; JUSTICA, B.; ORFAO, A.
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em /03/2002 Português
Blood Cells Mol Dis. 2002 Mar-Apr;28(2):181-90. The "ex vivo" patterns of CD2/CD7, CD57/CD11c, CD38/CD11b, CD45RA/CD45RO, and CD11a/HLA-DR expression identify acute/early and chronic/late NK-cell activation states. Lima M, Almeida J, dos Anjos Teixeira M, Queirós ML, Justiça B, Orfão A. Service of Clinical Hematology, Hospital Geral de Santo António, Porto, Portugal. mmc.lima@clix.pt Abstract To define a dynamic sequence of phenotypic changes related to early and late phases of NK-cell activation, we have analyzed by four-color flow cytometry the immunophenotype of normal blood NK-cells from 12 healthy individuals and compared it with those from 15 patients with acute viral infections and 15 patients with either chronic infections or tumors. Although a great interindividual variability was found, nonstimulated CD56(+) NK-cells, present in normal blood samples, usually were CD2(-/+lo), CD7(+hi), HLA-DR(-), CD11b(+), CD38(+), CD11a(+hi), CD45RA(+hi), and CD45RO(-), the expression of CD11c and CD57 being heterogeneous and variable. Recently activated NK-cells, herein corresponding to NK-cells from patients with acute viral infections, displayed a pattern of expression of CD2/CD7 similar to that referred to above, but they typically showed higher levels of CD11a...

‣ Utility of flow cytometry immunophenotyping and DNA ploidy studies for diagnosis and characterization of blood involvement in CD4+ Sezary's syndrome

Lima, M.; Almeida, J.; dos Anjos Teixeira, M.; Queiros, M.L.; Santos, A.H.; Fonseca, S.; Balanzategui, A.; Justiça, B.; Orfão, A.
Fonte: Pensiero Scientifico / Ferrata Storti Foundation Publicador: Pensiero Scientifico / Ferrata Storti Foundation
Tipo: Artigo de Revista Científica
Publicado em /08/2003 Português
Haematologica. 2003 Aug;88(8):874-87. Utility of flow cytometry immunophenotyping and DNA ploidy studies for diagnosis and characterization of blood involvement in CD4+ Sézary's syndrome. Lima M, Almeida J, dos Anjos Teixeira M, Queiros ML, Santos AH, Fonseca S, Balanzategui A, Justica B, Orfao A. Serviço de Hematologia, Unidade de Citometria, Hospital Geral de Santo António, Rua D Manuel II, s/n, 4099-001 Porto, Portugal. mmc.lima@clix.pt Abstract BACKGROUND AND OBJECTIVES: The exact immunophenotypic criteria for the identification of Sézary cells in the blood are still poorly defined. DESIGN AND METHODS: We analyzed the immunophenotype and DNA cell content of blood T cells in a series of 18 consecutive cases of Sézary's syndrome (SS), 21 normal individuals and 10 patients with reactive erythroderma, and correlated them with molecular and morphological findings. RESULTS: Phenotypically abnormal CD3+/TCRalphabeta+/CD4+ T cells were found in all SS patients but in none of the reactive erythroderma cases; small diploid, or less frequently hypodiploid Sézary's cells coexisted with large nearly tetraploid Sézary's cells in some cases. The most frequent phenotypic aberrations consisted in decreased expression of CD3/TCRalphabeta (94%)...

‣ 'MICKEY MOUSE EARS'

Nunnes, P.; Ramos, C.; Moreira, B.; Cruz, R.
Fonte: Centro Editor Livreiro da Ordem dos Médicos, Sociedade Unipessoal Publicador: Centro Editor Livreiro da Ordem dos Médicos, Sociedade Unipessoal
Tipo: Artigo de Revista Científica
Publicado em /03/2009 Português

‣ Meningite Bacteriana - revisão de dois anos; BACTERIAL MENINGITIS - TWO YEARS REVIEW

Sarmento, A.; Guardiano, M.; Silva, C.; Teixeira, M.; Valente, C.
Fonte: Revista Nacer e Crescer Publicador: Revista Nacer e Crescer
Tipo: Artigo de Revista Científica
Publicado em //2004 Português
RESUMO A meningite bacteriana é uma importante causa de mortalidade em idade pediátrica. As novas vacinas conjugadas anti-pneumocócica e anti-meningocócica representam uma nova esperança no controlo desta infecção. Objectivo: Avaliar a frequência de casos de meningite bacteriana numa população de crianças do Norte do País e identificar aspectos relacionados com a semiologia, agentes etiológicos, terapêutica instituída e evolução clínica. População e Métodos: Procedeu- -se a um estudo descritivo e retrospectivo de um grupo de crianças internadas com diagnóstico de Meningite Bacteriana, em três hospitais do Norte: Hospital Maria Pia no Porto, Senhora de Oliveira em Guimarães e Santa Luzia em Viana do Castelo. O período de estudo decorreu entre Janeiro de 2000 e Março de 2002. Resultados: Foram estudados 46 casos de Meningite Bacteriana, 42% pertencentes ao sexo masculino e 58% ao sexo feminino. As suas idades oscilaram entre 1,5 e 144 meses, com uma média de 36,6 meses. A clínica de apresentação foi variada: a febre foi a manifestação mais prevalente (100%), seguida de vómitos, sinais meníngeos e exantema petequial. A terapêutica empírica mais utilizado foram as cefalosporinas de 3ª geração.Em 73...

‣ Atypical Cogan’s Syndrome

Queirós, J.; Maia, S.; Seca, M.; Friande, A.; Araújo, M.; Meireles, A.
Fonte: Hindawi Publishing Corporation Publicador: Hindawi Publishing Corporation
Tipo: Artigo de Revista Científica
Publicado em /04/2013 Português
Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The diagnosis of atypical Cogan's syndrome was established, and the patient was treated with systemic corticosteroids and later on with cyclophosphamide and methotrexate. There were improvement of visual symptoms and stabilisation of left hearing. Conclusion. Cogan's syndrome is a very rare disease with no specific biological tests for the diagnosis. The diagnostic exams are mostly important to exclude other etiologies. The atypical ocular and audiovestibular manifestations make the diagnosis difficult, delaying the institution of appropriate therapy which may result in profound bilateral deafness.

‣ Evaluation of patients' discomfort regarding regional anesthesia: 8AP6‐7

Gomes, B.; Sá Couto, P.; Amadeu, E.
Fonte: European Journal of Anaesthesiology: June 2013 - Volume 30 - Issue - p 133–133 Publicador: European Journal of Anaesthesiology: June 2013 - Volume 30 - Issue - p 133–133
Tipo: Conferência ou Objeto de Conferência
Publicado em /06/2013 Português
Background and Goal of Study: Regional anesthesia may cause physical and psychological discomfort. 50% of patients scheduled for urologic procedures undergo regional anesthesia, and their comfort represents a concern to the anesthesiologist. This study aims to: 1. identify factors related to patients’ discomfort regarding regional anesthesia(position for anesthesia and surgery procedures, puncture site pain, room temperature, audio-visual perception, sensitive/motor blockade); 2. Evaluate patients’ satisfaction with anesthesia. Materials and Methods: Af ter approval from the Hospital Ethics Committee all patients over 18years old, scheduled for urologic surgery, understanding Portuguese and anesthetized with spinal anesthesia were included. Patients in day case surgery or with incomplete medical records were excluded. We performed a questionnaire(with closed ended questions) in the first 24 hours af ter surgery and consulted anesthesia records. We asked yes or no questions, used a 1-10 scale to evaluate pain and a 1-4 scale to evaluate satisfaction. Because there isn’t a valid questionnaire in the literature to evaluate what we aimed to, we created one based on multiple articles1,2. Results and Discussion: 50patients were included; mean age 65 years old (min.32...

‣ A clinical-pathological and survival study of oral squamous cell carcinomas from a population of the North of Portugal

Monteiro, L.; Barbas-Amaral, J.; Vizcaíno, J.; Lopes, C.; Torres, F.
Fonte: Medicina Oral S.L Publicador: Medicina Oral S.L
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
OBJECTIVES: Our aim was to analyze the clinical, pathological, and outcome characteristics of oral squamous cell carcinomas (OSCC) from a population of the North of Portugal. MATERIAL AND METHODS: We conducted a descriptive study of 128 OSCC diagnosed between the years of 2000 and 2010 in the Centro Hospitalar do Porto. Through of the review of the clinical records we studied several clinical, pathological, and outcome variables. The overall survival (OS) and disease-free survival (DFS) were analyzed by Kaplan-Meier method and log-rank test. Cox regression method was used for multivariate analysis. RESULTS: Of 128 patients with OSCC, 83 (64.8%) were male and 45 (35.2%) were female, (mean age of 62.13±15.57 years). The most affected location was the tongue (n=52; 40.6%). The most common cause of reference was a non-healing ulcer (n=35; 28.9%) followed by oral pain (n=27; 22.3%). Sixty (60.6%) patients were tobacco consumers and 55 (57.3%) alcohol consumers. The cumulative 3-years OS rate was 58.6% and DFS was 55.4%. In multivariable analysis for OS, we found an adverse independent prognostic value for advanced tumour size (p<0.001) and for the presence of perineural permeation (p=0.012). For DFS, advanced stage tumours presented adverse independent prognostic value (p<0.001). CONCLUSION: OSCC occurred most frequently in males...

‣ Aqueous humor erythropoietin levels in open-angle glaucoma patients with and without TTR V30M familial amyloid polyneuropathy

Beirão, J.; Moreira, L.; Oliveira, J.; Menéres, M.; Pessoa, B.; Matos, M.; Costa, P.; Torres, P.; Beirão, I.
Fonte: Atlanta Ga : Molecular Vision Publicador: Atlanta Ga : Molecular Vision
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Purpose: Glaucoma is the leading cause of irreversible blindness in familial amyloidotic polyneuropathy (FAP) patients. Erythropoietin (EPO) is a cytokine that has been shown to play a role in neuroprotection and is endogenously produced in the eye. EPO levels in the aqueous humor are increased in eyes with glaucoma. In this study, we evaluated the EPO concentration in the aqueous humor of FAP and non-FAP patients, with and without glaucoma. Methods: Undiluted aqueous humor samples were obtained from 42 eyes that underwent glaucoma surgery, phacoemulsification, or vitrectomy. EPO concentration in the aqueous humor and blood were measured using the Immulite 2000 Xpi using an automatic analyzer (Siemens Healthcare Diagnostics). Results: The mean EPO concentration in the aqueous humor of non-FAP glaucoma eyes group 2 (75.73±13.25 mU/ml) was significantly higher than non-FAP cataract eyes (17.22±5.33 mU/ml; p<0.001), FAP glaucoma eyes (18.82±10.16 mU/ml; p<0.001), and FAP nonglaucoma eyes (20.62±6.22 mU/ml; p<0.001). There was no statistically significant difference between FAP nonglaucoma eyes versus non-FAP cataract eyes (p = 0.23) and FAP glaucoma eyes versus FAP nonglaucoma eyes (p = 0.29). In the glaucoma groups, there was no correlation between the aqueous humor EPO concentration and the ocular pressure (p = 0.95) and mean deviation (p = 0.41). There was no correlation between the EPO serum concentration and EPO aqueous humor concentration in our patients (p = 0.77). Conclusions: Unlike other glaucomatous patients...

‣ Response to letter to the editor. "CT angiography source-images and CT perfusion: are they complementary tools for ischemic stroke evaluation?"

Alves, J.; Carneiro, A.; Xavier, J.
Fonte: Centauro Publicador: Centauro
Tipo: Artigo de Revista Científica
Publicado em /06/2014 Português

‣ Reliability of CT perfusion in the evaluation of the ischaemic penumbra

Alves, J.; Carneiro, A.; Xavier, J.
Fonte: Centauro Publicador: Centauro
Tipo: Artigo de Revista Científica
Publicado em /02/2014 Português
CT perfusion (CTP) is part of the initial evaluation of stroke patients, allowing differentiation between infarcted tissue and the ischaemic penumbra and helping in the selection of patients for endovascular treatment. This study assessed the reliability of the qualitative evaluation CTP maps in defining the ischemic penumbra and identified potential pitfalls associated with this technique. We reviewed CTP scans of 45 consecutive patients admitted to our institution with anterior circulation acute ischaemic stroke. Two neuroradiologists performed qualitative evaluations of cerebral blood volume (CBV) and mean transit time (MTT) maps, using 24h follow-up non-contrast CT as surrogate marker for the area of definitive infarct. For each slice analyzed, the area of qualitative alteration in the CBV and MTT maps was classified as either being inferior, equal or superior to the area of infarct on the follow-up CT. Three out of 45 (7%) patients had admission CT CBV abnormalities larger than follow-up lesions; 34/45 (76%) patients had infarct areas smaller than initial MTT prolongation. In the group of patients with no recanalization 12/19 (63%) had infarct areas smaller than initial MTT lesion. CBV abnormality is a reliable marker for an irreversible ischaemic lesion...

‣ Recurrent temporal bone tenosynovial giant cell tumor with chondroid metaplasia: the use of imaging to assess recurrence

Pina, S.; Fernandez, M.; Maya, S.; Garcia, R.; Noor, A.; Pawha, P.; Som, P.
Fonte: Centauro Publicador: Centauro
Tipo: Artigo de Revista Científica
Publicado em /02/2014 Português
Tenosynovial giant cell tumor (TGCT) is a benign proliferative lesion of unclear etiology. It is predominantly monoarticular and involves the synovium of the joint, tendon sheath, and bursa. TGCT of the temporomandibular joint (TMJ) is rare and aggressive resulting in destruction of surrounding structures. The diagnosis may be suggested by imaging, mainly by the MR features and PET/CT, and confirmed by histopathology. We describe the case of a 50-year-old man who presented with right-sided hearing loss, tinnitus and TMJ pain. Pathology revealed tenosynovial giant cell tumor with chondroid metaplasia. Six years later he developed a recurrence, which was documented to our knowledge for the first time with CT, MR and FDG PET/CT imaging.

‣ Acute ischemic stroke secondary to glioblastoma. A case report

Pina, S.; Carneiro, A.; Rodrigues, T.; Samões, R.; Taipa, R.; Melo-Pires, M.; Pereira, C.
Fonte: Centauro Publicador: Centauro
Tipo: Artigo de Revista Científica
Publicado em /02/2014 Português
Glioblastoma is a malignant infiltrative glial tumor occurring most often over 50 years of age, with diverse clinical presentations. We describe a case of temporal lobe glioblastoma with a rare presentation as an acute ischemic stroke, discussing the imaging and histopathological findings, and reviewing the literature. A 77-year-old woman had sudden onset of left hemiparesis and hemihypoesthesia. The neuroradiological studies revealed an acute ischemic lesion in the right lenticulostriate arteries territory and a right anterior temporal lobe tumor, enhancing heterogeneously after contrast with enhancement of the right middle cerebral artery wall. Histopathological analysis of the resected temporal lesion revealed a glioblastoma multiforme with tumoral infiltration of the vascular wall. Glioblastoma should be considered in the etiology of acute ischemic stroke, where neuroimaging plays an important diagnostic role, enabling a more immediate therapeutic approach, with a consequent impact on survival.

‣ First trimester aneuploidy screening program for preeclampsia prediction in a portuguese obstetric population

Teixeira, C.; Tejera, E.; Martins, H.; Pereira, A.; Costa-Pereira, A; Rebelo, I
Fonte: Hindawi Publishing Corporation Publicador: Hindawi Publishing Corporation
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Objective. To evaluate the performance of a first trimester aneuploidy screening program for preeclampsia (PE) prediction in a Portuguese obstetric population, when performed under routine clinical conditions. Materials and Methods. Retrospective cohort study of 5672 pregnant women who underwent routine first trimester aneuploidy screening in a Portuguese university hospital from January 2009 to June 2013. Logistic regression-based predictive models were developed for prediction of PE based on maternal characteristics, crown-rump length (CRL), nuchal translucency thickness (NT), and maternal serum levels of pregnancy-associated plasma protein-A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (free β -hCG). Results. At a false-positive rate of 5/10%, the detection rate for early-onset (EO-PE) and late-onset (LO-PE) PE was 31.4/45.7% and 29.5/35.2%, respectively. Although both forms of PE were associated with decreased PAPP-A, logistic regression analysis revealed significant contributions from maternal factors, free β -hCG, CRL, and NT, but not PAPP-A, for prediction of PE. Conclusion. Our findings support that both clinical forms of EO-PE and LO-PE can be predicted using a combination of maternal history and biomarkers assessed at first trimester aneuploidy screening. However...

‣ Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Fernández-Marmiesse, A.; Morey, M.; Pineda, M.; Eiris, J.; Couce, M.; Castro-Gago, M.; Fraga, J.; Lacerda, L.; Gouveia, S.; Pérez-Poyato, M.; Armstrong, J.; Castiñeiras, D.; Cocho, J.
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling. METHODS: We have designed a targeted resequencing assay for the simultaneous testing of 57 lysosomal genes, using in-solution capture as the enrichment method and two different sequencing platforms. A total of 84 patients with high to moderate-or low suspicion index for LSD were enrolled in different centers in Spain and Portugal, including 18 positive controls. RESULTS: We correctly diagnosed 18 positive blinded controls, provided genetic diagnosis to 25 potential LSD patients, and ended with 18 diagnostic odysseys. CONCLUSION: We report the assessment of a next-generation-sequencing-based approach as an accessory tool in the diagnosis of LSDs...

‣ A case of Protracted Diarrhea in a Newborn: a Diagnostic Challenge

Mendes, C.; Figueiredo, C.; Mansilha, H.; Proença, E.; Oliveira, D.; Lima, R.; Carvalho, C.
Fonte: PAGEPress Publicador: PAGEPress
Tipo: Artigo de Revista Científica
Publicado em 12/08/2014 Português
Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis.