Teste Repositóri
2014-01-01
Resultados de pesquisa
Foram encontrados 19 registos.
Familial amyloidosis ATTR V30M is an hereditary disorder, the most frequent type of transthyretin related amyloidosis. The main manifestation of the disease is a sensory-motor and autonomic polyneuropathy. Other manifestations occur such as cardiovascular, gastrointestinal, ocular, renal and hematological disorders. Anemia is a common feature, and occurs late in the disease course. It is associated with low erythropoietin production. Decreased production can start early in the course of the disease and precede clinical symptoms. The possible underlying pathogenic mechanisms are discussed.
Purpose: The purpose of this study to report a patient with amyloidotic angiopathy and neovascular glaucoma who was treated with intravitreal injection of ranibizumab followed by laser photocoagulation. Methods: A 52-year-old liver-transplanted woman with familial amyloidotic polyneuropathy presented with unilateral rubeosis iridis and neovascular glaucoma. A complete ocular examination and fluorescein and indocyanine green angiography were performed. Results: Best-corrected visual acuity before injection was 0.05 (Snellen) in the left eye, and intraocular pressure was 42 mmHg. Fluorescein angiography showed vascular occlusion in the retinal periphery, focal staining of vessels, and microaneurysms. Indocyanine green angiography showed hyperfluorescent spots alongside the choroidal veins. Two days after receiving intravitreal injection ...
PURPOSE. Evaluation of the use of topical cyclosporine eyedrops in the treatment of severe dry eye disease in liver transplanted patients with familial amyloidotic polyneuropathy (FAP) unresponsive to therapy with artificial tears and lacrimal plugs.
METHODS: A prospective clinical study of 5 patients (10 eyes) admitted to the Ophthalmology Department of the Centro Hospitalar do Porto with severe dry eye disease refractory to artificial tears and lacrimal plug treatments. Evaluation of the patients included best-corrected visual acuity, corneal punctuate fluorescein staining, tear break-up time, Schirmer test without anesthesia, and Ocular Surface Disease Index. Patients were observed at time 0, and at 3, 7, and 11 months.
RESULTS: Treatment with topical cyclosporine improved all studied parameters from baseline, and in all the p...
Background and aims: Interleukin 6 (IL6), also known as interferon beta 2, is a class-I helical cytokine with a broad spectrum of biological activities in humoral and cellular defense. This class of cytokines has a gene structure conserved throughout vertebrates, with five coding exons. IL6 is involved in the immune response against rabbit hemorrhagic disease virus that causes a highly fatal disease in the European rabbit. Previously, IL6 from European rabbit samples belonging to the subspecies Oryctolagus cuniculus cuniculus, was shown to differ from the other mammals by extending for further 27 amino acids. This difference results from a mutation in the typical stop codon into a glutamate encoding codon. However, in other leporids (Sylvilagus spp. and Lepus spp.) that diverged from European rabbit approximately 12 million years ago t...
Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is caused by mutations in the ABCC6 gene. More than 300 pathogenic ABCC6 mutations are known. Two of these mutations are common: p.R1141X in exon 24, with a prevalence of 30%, and the Alu–mediated deletion of exons 23 to 29 (EX23_29del; p.A999_S1403del) found in 10-20% of patients. Homozygosity is rare.
A 40-year-old female with a previous diagnosis of PXE was admitted in Nephrology Outpatient Clinic for nephrocalcinosis. She has two sisters, one of which also has a diagnosis of PXE and nephrocalcinosis. Physical examination revealed the presence of typical skin and ocular abnormalities....
Introduction
The determination of HLA class II genotype is widely used to confirm the diagnosis of Narcolepsy without (N) or with Cataplexy (NC). The use of HLA genotyping in clinical diagnosis is reliable and is a contributing factor to the reinforcement of the wide acceptance of the hypothesis of autoimmune origin for Narcolepsy. We evaluate the contribution of genetic markers (HLA) in the differential diagnosis between narcolepsy with and without Cataplexy and their relevance in the context of our population (Northern Portugal).
Materials and methods
A cohort of 53 patients with Narcolepsy with Cataplexy (NC) or without (N) was studied. Patients followed up to the Outpatient Sleep Clinic of Hospital Santo António/CH Porto were assessed by clinical, night sleep polygraphic recording, MSLT on the following day. Blood sampling for...
Introduction. The determination of HLA class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. It is known from studies carried out in the 80’s and 90’s that genetic markers, particularly HLA-DR2 (HLA-DRB1*15) and later DQB1*06:02, are strongly associated with susceptibility to narcolepsy (N). First studies in 1984 showed values of 100% of positive HLA-DR2 (Langdon et al; Lancet 1984) in narcoleptic patients with cataplexy (NC). Mignot et al (Sleep 1997) found values of 76.1% of HLA-DQB1*06:02 positive in NC and 40.9% in N. More recent studies emphasize difference between children and adults for HLA-DQB1*06:02. Values of 93.7% (adults) vs 92.6% (children) in NC and a frequency of 78,6% in adults vs 52.9% in children were found in N (Nevsimalova et al; J Neurol 2013). The dissemination of HLA g...
Purpose: Evaluation of the impact of liver transplantation in the natural history of ocular disorders in familial amyloidotic polyneuropathy (FAP) amyloidosis TTR V30M related (ATTR V30M) patients.
Design: A clinical, retrospective and cross-sectional study of 64 Portuguese FAP ATTR V30M patients was carried out between January 2005 and December 2011.
Methods: Thirty-two liver transplanted patients (both eyes) aged 39.6–53.8 years old, 32/32 male/female, were paired with an equal number of non-transplanted patients, matching for age, gender, age at onset, disease duration and gender of transmitting parent. Intervention or observation procedure: Routine ophthalmological observation. Main outcome measures: Slit-lamp observation for abnormal conjunctival vessels (ACV), tears break-up time, iris, lens; fundus observation for vitreous...
Amyloidoses are a group of heterogeneous diseases classified according to the nature of their causative
amyloid proteins. Commonly, paraffin-embedded tissue is used for the typing of amyloid by immunohistochemistry.
DNA analysis should always be considered if hereditary amyloidosis is suspected. Since the kidneys
are one of the organs that are most commonly involved in amyloid deposition in systemic amyloidoses, we
screened 102 consecutive cases with biopsy-proven amyloid disease by immunohistochemistry. DNA analysis
was performed to confirm a diagnosis of hereditary amyloidosis. Demographic characteristics, underlying
disease and clinical data at the time of renal biopsy were obtained by retrospective review of medical records.
The amyloidosis type according to immunohistochemical amyloid protein identification was AA in 60
(5...
Introduction: Psoriasis is a chronic inflammatory skin disease affecting 2–3% of the world population. Patients with psoriasis (Ps) have higher prevalence of lipid disorders when compared to unaffected individuals. These patients, especially those with severe and prolonged disease, have an increased morbidity and mortality from cardiovascular events. Apolipoprotein E (ApoE), a protein involved in lipid metabolism, cholesterol and phospholipid transport, has functionally relevant gene variants. It has been described that the e4 allele may increase the risk to develop atherosclerosis, and the e2 allele has been associated with hyperlipoproteinemia type III. An increased risk of psoriasis among persons with these two alleles has also been reported. Nevertheless, the role of ApoE in Psoriasis remains controversial.
Objectives: The aim o...
