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125 Possible Causes for Variable Expressivity, Patients Possibly Clinically Asymptomatic

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  • Vitamin B12 Deficiency

    Other newer areas of investigation that may provide better insights into the variability of expression of B 12 deficiency include genetic analysis and the effects of the microbiome[] A total of 62 asymptomatic vitamin B12 deficiency patients and 40 healthy subjects were included in the study and both groups were subjected to Standardized Mini-Mental State[] […] to show possible cerebral neuronal damage using diffusion tensor imaging (DTI) method.[]

  • Hyperuricemia

    Nature 456:464–469 PubMed CrossRef Google Scholar Lund AM, Schwartz M, Skovby F (1996) Variable clinical expression in a family with OI type IV due to deletion of three base[] This highlights the importance of addressing other possible underlying diseases when evaluating the patient with CPPD and chondrocalcinosis.[] Statistical Analyses Summary statistical results of baseline characteristics of all subjects and stratification by quartiles of uric acid are expressed as percentages for[]

  • Brugada Syndrome

    Seven relatives also carry the mutation and showed a Brugada syndrome with an incomplete and variable expression.[] CONCLUSION: Drug-induced BS has a good prognosis if asymptomatic; however, SCD is possible.[] BS is an autosomal dominant genetic disorder with variable expression characterized by abnormal findings on electrocardiogram (ECG) in conjunction with an increased risk of[]

  • Arrhythmogenic Right Ventricular Dysplasia

    The disease is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.[] The patient was asymptomatic and the clinical relevance of this finding would be raised in case a possible differential diagnosis of right heart overload should be necessary[] Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited disease with incomplete penetrance and variable expression.[]

  • Asthma

    Asthma is a complex disorder that displays heterogeneity and variability in its clinical expression both acutely and chronically.[] In years to come it may be possible to identify patients with asymptomatic asthma and hence underlying inflammation by using more sensitive tests (eg impulse oscillometry[] The effect size is a dimensionless variable expressing the standardized difference (i.e., the mean difference divided by standard deviation) between, in our study, the mean[]

  • Orthostatic Hypotension

    We furthermore calculated within participant variability in SBP related to postural change, expressed as coefficient of variation.[] These findings suggest that clinically asymptomatic orthostatic hypotension in Parkinson's disease patients may acutely worsen neuropsychological performances with possible[] For the evaluation of relations between variables, we used linear regression analysis and Spearman’s rank correlation. All data are expressed as mean (SEM).[]

  • Polycystic Ovary Syndrome

    The genetic component appears to be inherited in an autosomal dominant fashion with high genetic penetrance but variable expressivity in females; this means that each child[] Consequently our results should be more relevant to clinical practice as they reflect the risk amongst our patients rather than asymptomatic women in the general population[] Further, two or more phenotypes can be present in the same family suggesting some of these phenotypic differences reflect variable expression and/or penetrance of the same[]

  • Cardiomyopathy

    The disorder is thought to be inherited in an autosomal dominant fashion with variable penetrance and variable expressivity.[] […] findings Very variable, many patients remain asymptomatic Exercise-induced ventricular arrhythmias palpitations , syncope , possibly sudden cardiac death Atypical chest pain[] Wide variation exists in the phenotypic expression of a given mutation of a given gene, with variability in clinical symptoms and the degree of hypertrophy expressed.[]

  • Gout

    Multivariate regression analysis of distance matrices for testing associations between gene expression patterns and related variables.[] This highlights the importance of addressing other possible underlying diseases when evaluating the patient with CPPD and chondrocalcinosis.[] […] the exposure variables for categorical measures provides greater robustness to outliers.[]

  • Gastrointestinal Neuroendocrine Tumor

    Neuroendocrine tumors arising from the foregut can show considerable variability in protein expression depending on the specific site of origin.[] Unfortunately, as these lesions are asymptomatic or have non-specific clinical manifestations, as in this case, the diagnosis is often delayed.[] NENs express a variable spectrum of proteins, shared with their normal cell counterparts at specific anatomical locations, including markers of general neuroendocrine differentiation[]

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