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Atypical Manifestations (atypical + manifestation)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

JAW CLAUDICATION AS AN ATYPICAL MANIFESTATION OF AORTIC THORACIC DISSECTION IN ELDERLY PEOPLE

JOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 6 2008
Stephanie Branger MD
No abstract is available for this article. [source]

Adult-onset dystonia: Atypical manifestation of Segawa disease

MOVEMENT DISORDERS, Issue 9 2007
Jens Ulrich Regula MD
Abstract A 33-year-old woman developed exercise-induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a levodopa test in patients with uncommon dystonic symptoms. © 2007 Movement Disorder Society [source]

Response of atypical symptoms of gastro-oesophageal reflux to antireflux surgery

BRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 12 2001
Dr T. M. Farrell
Background: Atypical manifestations of gastro-oesophageal reflux (GOR) include asthma, chest pain, cough and hoarseness. The effectiveness of antireflux surgery for these symptoms is uncertain. The present study compared symptomatic response rates for typical and atypical GOR symptoms after fundoplication. Methods: Between October 1991 and January 1998, 324 patients underwent laparoscopic fundoplication at Emory University Hospital and returned postoperative questionnaires. Severity of typical (heartburn) and atypical (asthma, chest pain, cough and hoarseness) GOR symptoms was reported by patients on a 0,4 scale before surgery, and at 6 and 52 weeks after operation. Patients were stratified based on preoperative symptoms into three groups: group 1 (severe heartburn/minimal atypical symptoms), group 2 (severe heartburn/severe atypical symptoms) and group 3 (minimal heartburn/severe atypical symptoms). Results: In group 1 (n = 173) heartburn improved in 99 per cent and resolved in 87 per cent. In group 2 (n = 95) heartburn improved in 95 per cent and resolved in 76 per cent, and atypical symptoms improved in 94 per cent and resolved in 42 per cent. In group 3 (n = 56) atypical symptoms improved in 93 per cent and resolved in 48 per cent. Although all symptoms were improved by fundoplication, resolution was more likely for heartburn than for atypical symptoms. Conclusion: Atypical symptoms of GOR are improved by fundoplication, but symptom resolution occurs in fewer than 50 per cent of patients. © 2001 British Journal of Surgery Society Ltd [source]

Atypical Spontaneous Intracranial Hypotension With a Head-Shaking Headache

HEADACHE, Issue 7 2010
Hung Youl Seok MD
Spontaneous intracranial hypotension (SIH) is typically characterized by orthostatic headache; however, various atypical manifestations of SIH have been reported recently. We report here the case of a 46-year-old man with headache secondary to SIH, which was nonorthostatic, triggered only when the patient shook his head. We suggest that SIH should be suspected in patients with headache induced by head-shaking, even without orthostatic features, especially when the headache is accompanied by other symptoms commonly associated with SIH. [source]

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

ARTHRITIS & RHEUMATISM, Issue 4 2010
Isabelle Jéru
Objective To gain insight into the pathophysiology of an atypical familial form of an autoinflammatory disorder, characterized by autosomal-dominant sensorineural hearing loss, systemic inflammation, increased secretion of interleukin-1, (IL-1,), and the absence of any cutaneous manifestations, and to assess the functional consequences of a missense mutation identified in the leucine-rich repeat (LRR) domain of NLRP3. Methods Microsatellite markers were used to test the familial segregation of the NLRP3 locus with the disease phenotype. All NLRP3 exons were screened for mutations by sequencing. Functional assays were performed in HEK 293T cells to determine the effects of mutated (versus normal) NLRP3 proteins on NF-,B activation, caspase 1 signaling, and speck formation. Results A heterozygous NLRP3 missense mutation (p.Tyr859Cys) was identified in exon 6, which encodes the LRR domain of the protein. This mutation was found to segregate with the disease phenotype within the family, and had a moderate activating effect on speck formation and procaspase 1 processing and did not alter the inhibitory properties of NLRP3 on NF-,B signaling. Conclusion This report is the first to describe a familial form of a cryopyrinopathy associated with a mutation outside of exon 3 of NLRP3. This finding, together with the known efficacy of anti,IL-1 treatments in these disorders, underlines the importance of screening all exons of NLRP3 in patients who present with atypical manifestations. In addition, the gain of function associated with this mutation in terms of activation of caspase 1 signaling was consistent with the observed inflammatory phenotype. Therefore, this study of the functional consequences of an LRR mutation sheds new light on the clinical relevance of in vitro assays. [source]

NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain

ARTHRITIS & RHEUMATISM, Issue 6 2009
Carlos D. Rosé
Objective To study the phenotype characteristics of the largest to date cohort of patients with pediatric granulomatous arthritis (PGA) and documented mutations in the NOD2 gene. Methods We analyzed merged data from 2 prospective cohorts of PGA patients, the International PGA Registry and a Spanish cohort. A systematic review of the medical records of interest was performed to identify phenotype characteristics. Results Forty-five patients with PGA (23 sporadic cases and 22 from familial pedigrees) and documented NOD2 mutations were identified and formed the basis of the study. Of these 45 patients, 18 had the R334W-encoding mutation, 18 had R334Q, 4 had E383K, 3 had R587C, 1 had C495Y, and 1 had W490L. The majority of patients manifested the typical triad of dermatitis, uveitis, and arthritis. In contrast, in 13 patients, the following "atypical" manifestations were noted: fever, sialadenitis, lymphadenopathy, erythema nodosum, leukocytoclastic vasculitis, transient neuropathy, granulomatous glomerular and interstitial nephritis, interstitial lung disease, arterial hypertension, hypertrophic cardiomyopathy, pericarditis, pulmonary embolism, hepatic granulomatous infiltration, splenic involvement, and chronic renal failure. In addition, 4 individuals who were asymptomatic carriers of a disease-causing mutation were documented. Conclusion NOD2 -associated PGA can be a multisystem disorder with significant visceral involvement. Treating physicians should be aware of the systemic nature of this condition, since some of these manifestations may entail long-term morbidity. [source]