Search results for "HEREDITARY"
showing 10 items of 650 documents
Genetic Analysis As a Practical Tool to Diagnose Hereditary Angioedema with Normal C1 Inhibitor: A Case Report
2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
2014
Niemann-Pick type C disease is a rare disorder caused by impaired intracellular lipid transport due to mutations in either the NPC1 or the NPC2 gene. Ninety-five % of NPC patients show mutations in the NPC1 gene. A much smaller number of patients suffer from NPC2 disease and present respiratory failure as one of the most frequent symptoms. Several plasma oxysterols are highly elevated in NPC1 and can be used as a biomarker in the diagnosis of NPC1.Plasma cholestane-3β,5α,6β-triol was evaluated as biomarker for NPC2 by GC/MS and LC-MS/MS analysis. The diagnosis was confirmed by Sanger sequencing and filipin staining.We report three NPC2 patients with typical respiratory problems and a detail…
Severe Tongue Swellings In Hereditary Angioedema With A Specific Mutation In The Plasminogen Gene
2018
Disease expression in women with hereditary angioedema
2008
Udgivelsesdato: 2008-Jun-11 OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills improved it for 64%. During pregnancies, 38% of women had more attacks, …
The European register of hereditary angioedema: Experience and preliminary results
2007
Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.
2016
Abstract Differentiating between primary lateral sclerosis and apparently sporadic hereditary spastic paraplegia patients is an important but difficult issue in transversal studies. Consequently, these patients have been indistinctly classified as primary lateral sclerosis or sporadic HSP in different publications, further contributing to the confusion between both diseases. In our opinion, Schule et al have not reliably excluded PLS in their cohort of simplex HSP, what could affect their reported results. We think that a clearer distinction should be made between both diseases and we propose new definitions and criteria to facilitate this differentiation. This article is protected by copyr…
Opsoclonus-myoclonus syndrome attributable to West Nile encephalitis: a case report
2014
Introduction Opsoclonus-myoclonus syndrome is a very rare neurological disorder associated with some viral infections and exceptionally with the West Nile virus. Case presentation A 57-year-old Caucasian woman presented with fever, dizziness, balance difficulties, vomiting, dancing eye, altered speech, tremor, generalized myoclonus and failure to rise or stand. Our objective is to describe a patient with West Nile infection, which was identified both in her serum and cerebrospinal fluid and was associated with encephalitis and opsoclonus-myoclonus-ataxia syndrome. Conclusions Opsoclonus-myoclonus-ataxia syndrome continued for 4 weeks after onset, when she died. There was no evidence for any…
Effects of chemically modified tetracyclines (CMTs) in sensitive, multidrug resistant and apoptosis resistant leukaemia cell lines
2001
Recently discovered chemically modified tetracyclines (CMTs) have shown in vitro and in vivo anti-proliferative and anti-tumour activities. Here, we evaluated in vitro the anti-proliferative and apoptotic activity of six different dedimethylamino chemically modified tetracyclines (CMT-1, CMT-3, CMT-5, CMT-6, CMT-7 and CMT-8) in sensitive and multidrug resistant myeloid leukaemia cells (HL60 and HL60R) in vitro. Three of these compounds (CMT-5, CMT-6, CMT-7) showed low cytotoxic activity both in sensitive and in resistant cells, CMT-3 was endowed with a high anti-proliferative activity only in sensitive cells and was moderately effective as apoptosis inducing agent, with an activity similar …
Current drugs in early development for hereditary angioedema: potential for effective treatment
2014
Hereditary angioedema (HAE) through C1 inhibitor deficiency is a rare but important disease. It is characterized by recurrent episodes of angioedema, which commonly affects the skin (in the form of swelling in the extremities, face and genitals) as well as the gastrointestinal tract (abdominal pain attacks). In approximately 1% of cases of angiodema-related swelling, there is obstruction of the upper airway, which is potentially life-threatening. Therefore, HAE due to C1 inhibitor deficiency may be associated with significant morbidity and mortality. Recent research has added to our ever-increasing understanding of the pathogenesis of HAE, which has, in addition, new clinical trials with ne…
Brugada phenocopy in diabetic ketoacidosis, the importance of the diagnostic approach
2020
Abstract Brugada phenocopies (BrP) are clinical entities that present with identical ECG patterns to those of true Brugada Syndrome (BrS) but are elicited by various other clinical circumstances. Our manuscript shows an interesting case of a type-1 Class A BrP in a young patient with diabetic ketoacidosis and hyperkalemia.