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Same Disease (same + disease)
Selected AbstractsDifferences in attitudes between patients with primary colorectal cancer and patients with secondary colorectal cancer: is it reflected in their willingness to participate in drug trials?EUROPEAN JOURNAL OF CANCER CARE, Issue 2 2005G. GARCEA mrcs Recruitment of patients into drug trials is essential in order to evaluate new treatments. Knowing why patients enter drug trials and their fears regarding them can be used in future research to ensure good recruitment and provide a supportive atmosphere for patients. Forty patients with colorectal cancer and 30 patients with colorectal liver metastases were asked to participate in a drug trial involving the oral consumption of a diet-derived agent of unknown therapeutic action. All patients agreeing or refusing to participate were asked to complete a short questionnaire with a series of options detailing the reasons behind their decision. Patients with colorectal hepatic metastases were motivated by altruism in entering the trial (e.g. helping others, helping the investigator) and displayed a realistic expectation that the drug would give little direct benefit to them. Patients with primary colorectal tumours were motivated by more ,selfish' reasons such as helping themselves and displayed an unrealistic expectation concerning any therapeutic benefit from the trial drug. Over 90% of all patients polled stated that their decision was made after reading the patient information leaflet. Patients with different stages of the same disease have very different fears and anticipations of drug trials, which need to be addressed specifically. The importance of the initial contact is demonstrated. Unrealistic expectations regarding the trial drug are common despite clear information to the contrary. [source] Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatmentEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2003Angela Rösen-Wolff Abstract: Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is characterized by fever, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a deforming arthritis. In the CIAS1 gene of many but not all CINCA patients, disease-associated mutations have been found recently. We here describe two such patients from Germany. One of them, a 3-yr-old boy, has a 1709A,G, Y570C, mutation, which has previously been described to cause CINCA syndrome. His clinical course is very severe and no satisfying response has been achieved even with high doses of local and systemic steroids. The other patient has a somewhat milder clinical course and considerable improvement could be accomplished with moderate and low doses of steroids. In her CIAS1 gene we have found a 1043C,T, T348M, mutation, which has only been detected in Muckle,Wells syndrome before. Our results suggest that the severity of symptoms in CINCA patients may be influenced by the underlying mutation in the CIAS1 gene. Furthermore, our observations support the view that CINCA syndrome and Muckle,Wells syndrome are essentially the same disease with different degrees of severity. [source] Are primary biliary cirrhosis and autoimmune cholangitis reflective of the pendulum of a clock and therefore represent a ,phase' of the same disease?JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 2 2001Hiromi IshibashiArticle first published online: 10 SEP 200 No abstract is available for this article. [source] Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type IJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 1 2000JO Sass Abstract: A 21-month-old girl suffering from tyrosinaemia type I and undergoing treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) presented with pruritus which rapidly ceased with administration of high doses of ursodeoxycholic acid. Determination of plasma bile acids revealed clearly elevated levels both in samples taken before and after the onset of NTBC therapy, thus indicating, that the increase was not related to the administration of this drug. This result is corroborated by data from the first patient's newborn sister, diagnosed with the same disease, who showed elevated plasma bile acid concentrations in all samples examined, except for the cord plasma. This is the first report on altered bile acid concentrations in tyrosinaemia type I, and underlines the need for thorough investigation of bile acid metabolism in this disease. [source] Clinical overview of the synucleinopathiesMOVEMENT DISORDERS, Issue S6 2003Maria J. Martí MD Abstract The term synucleinopathies is used to name a group of neurodegenerative disorders characterized by fibrillary aggregates of ,-synuclein protein in the cytoplasm of selective populations of neurons and glia. These disorders include Parkinson's disease (PD), dementia with Lewy bodies (DLB), pure autonomic failure (PAF), and multiple system atrophy (MSA). Clinically, they are characterized by a chronic and progressive decline in motor, cognitive, behavioural, and autonomic functions, depending on the distribution of the lesions. Because of clinical overlap, differential diagnosis is sometimes very difficult. Parkinsonism is the predominant symptom of PD, but it can be indistinguishable from the parkinsonism of DLB and MSA. Autonomic dysfunction, which is an isolated finding in PAF, may be present in PD and DLB, but is usually more prominent and appears earlier in MSA. DLB could be the same disease as PD but with widespread cortical pathological states, leading to dementia, fluctuating cognition, and the characteristic visual hallucinations. The deposition of aggregates of synuclein in neurons and glia suggests that a common pathogenic mechanism may exist for these disorders. Even though synuclein may play an important role in disease development in these disorders, in light of the different symptom complex and prognosis and management issues that characterize each disorder, we think that the term synucleinopathy has little practical value as a diagnostic term for the clinician. Clinicians should attempt to reach standard clinical diagnosis on patients, such as PD, PAF, or MSA. © 2003 Movement Disorder Society [source] Point Mutation of an EYA1- gene Splice Site in a Patient with Oto-facio-cervical SyndromeANNALS OF HUMAN GENETICS, Issue 1 2006E. Estefanía Summary Mutations of the EYA1 gene (8q13.3) are the most common known cause of the branchio-oto-renal dysplasia (BOR), an autosomal dominant disease that includes developmental defects of branchial arch structures, middle and/or inner ear and kidney. The distinction between BOR and other dysplasias, such as oto-facio-cervical syndrome (OFC), is challenged by frequent association of the former to other diverse malformations, and by variable expressivity even within the same family. OFC is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. Recent characterization of one OFC patient shed some light on the controversy over whether OFC and BOR are the same disease, and led to the hypothesis that OFC is caused by contiguous deletions of EYA1 and adjacent genes. By contrast, we show here that an OFC patient bears a single-nucleotide substitution in a splice site of EYA1. Our results indicate that not only major rearrangements, but also point mutations altering the EYA1 reading frame, can be found in patients with OFC syndrome. [source] The early disease stage in axial spondylarthritis: Results from the german spondyloarthritis inception cohort,ARTHRITIS & RHEUMATISM, Issue 3 2009Martin Rudwaleit Objective Ankylosing spondylitis (AS) is diagnosed late, because radiographs of the sacroiliac joints often do not show definite sacroiliitis at the time of disease onset. The aim of this study was to investigate whether patients without definite radiographically defined sacroiliitis, referred to as nonradiographic axial spondylarthritis (SpA), are different from patients with AS with regard to clinical manifestations and disease activity measures. Moreover, we sought to identify determinants of the development of radiographic sacroiliitis. Methods In a cross-sectional analysis of 462 patients, we compared 226 patients with nonradiographic axial SpA (symptom duration ,5 years) and 236 patients with AS (symptom duration ,10 years) who are participants in the German Spondyloarthritis Inception Cohort. Radiographs of the sacroiliac joints and the spine were assessed by 2 readers in a blinded manner. Logistic regression analysis was applied to identify parameters associated with structural damage. Results The 2 groups did not differ in the frequency of HLA,B27 positivity, inflammatory back pain, arthritis, enthesitis, and uveitis and had similar levels of disease activity, using measures such as the Bath Ankylosing Spondylitis Disease Activity Index. In both groups, HLA,B27 positivity determined the age at disease onset. Male sex (adjusted odds ratio [OR] 2.38, 95% confidence interval [95% CI] 1.19,4.73 [P = 0.014]) and an elevated C-reactive protein (CRP) level (adjusted OR 1.85, 95% CI 0.96,3.56 [P = 0.066]) were associated with radiographic sacroiliitis. In patients with AS, male sex and an elevated CRP level were also associated with the presence of syndesmophytes. Conclusion Clinical manifestations and disease activity measures are highly comparable between patients with early nonradiographic axial SpA and those with early AS, suggesting that these 2 entities are part of the same disease. Male sex and an elevated CRP level are associated with structural damage on radiographs, whereas HLA,B27 positivity determines the age at disease onset. [source] Gastric cancer in the East: same disease, different patientBRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 9 2005S. M. Griffin No abstract is available for this article. [source] The effectiveness of intranasal corticosteroids in combined allergic rhinitis and asthma syndromeCLINICAL & EXPERIMENTAL ALLERGY, Issue 12 2004P. Taramarcaz Summary Background Allergic rhinitis (AR) and asthma often coexist and may represent two manifestations of the same disease recently named combined AR and asthma syndrome (CARAS). Aim To review the common pathophysiology of combined AR and asthma and to investigate the efficacy of intranasal corticosteroids (INCS). Methods Medline was used to identify articles relevant to mechanisms. A Cochrane systematic review was performed to assess the efficacy of INCS in CARAS. Results There is cross-talk, evidence of a common inflammatory response in both sites, linked by a systemic component. The efficacy of anti-inflammatory INCS on asthma outcomes was assessed in a systematic review of 12 randomized controlled trials involving 425 subjects. After INCS there were non-significant trends for improvement in asthma symptom score (standardized mean difference (SMD) of 0.61; P=0.07), forced expiratory volume in 1 s (SMD of 0.31; P=0.08), and morning peak expiratory flow (weighted mean difference of 36.51; P=0.06). There was no impact on methacholine airways responsiveness (SMD of ,0.20; P=0.4). The review identified two promising new treatment options in united airway disease such as INCS as monotherapy in rhinitis and mild asthma, and a combined intranasal and intrabronchial corticosteroid (IBCS) deposition technique. Conclusion Common mucosal inflammatory responses occur in CARAS. This systematic review shows trends for a benefit of INCS in CARAS, but recognizes that more research is needed. At this stage, the current best practice is to treat asthma conventionally with IBCS with or without ,2 -agonist and to add INCS to improve specific rhinitis symptoms. [source] Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic caseCLINICAL GENETICS, Issue 3 2004M Nagao-Watanabe Epidermolysis bullosa simplex (EBS) is an autosomal-dominant inherited blistering skin disease characterized by intraepidermal blistering due to mechanical stress-induced degeneration of basal keratinocytes. EBS is caused by mutations in either keratin 5 or keratin 14, the major keratins expressed in the basal layer of the epidermis. We experienced a unique EBS-affected family. The proband had a heterozygous 1649delG mutation in the keratin 5 gene and had been reported as a case of de novo mutation, because the mutations were not detected in the parents' DNA from blood samples. However, the proband's younger sister was revealed to have the same disease at birth and we found the same mutation in her. We reinvestigated the familial segregation of the 1649delG mutation and it was shown that the mother's DNA from hair bulb and buccal cell samples had the 1649delG mutation heterozygously, but her DNA from blood samples did not. A careful check on the mother's history disclosed that she had migratory circinate pigmentation in her skin in childhood, which means maternal somatic and germline mosaicism. The demonstration of somatic and gonadal mosaicism in the keratin 5 gene is important for accurate genetic counselling of families with sporadic cases of EBS. [source] A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coliACTA PAEDIATRICA, Issue 2004R Carrozzo A multidisciplinary strategy was used to identify the molecular defect in a family with Leigh syndrome (LS). The propositus presented severe developmental delay, an ataxic-spastic gait and seizures. She died at 3.5 y of age from cardiorespiratory arrest. Postmortem examination disclosed pathological features typical of LS. A 12-y-old sister is affected with the same disease. Respiratory chain enzyme complex activities in skeletal muscle biopsy were normal. Adenosine triphosphate (ATP) synthesis during oxidative phosphorylation in skin fibroblasts mitochondria showed a severely hampered ATP production. Mitochondrial DNA sequencing revealed a new mutation in the ATPase 6 gene (T9176G). Site-directed mutagenesis in Escherichia coli strains was used to measure H+ pumping and ATP synthesis. Results were comparable to findings obtained in human cells. These data corroborate the use of E. coli strains as a feasible "animal" model for functional studies in pathogenic mutations of the ATPase 6 gene. [source] | |||||||||||||