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125 Possible Causes for Variable Expressivity, Patients Possibly Clinically Asymptomatic

Did you mean: Variable Expressivity, Patients, Possibly Clinically Asymptomatic

  • 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[bloodjournal.org] 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[ncbi.nlm.nih.gov] […] to show possible cerebral neuronal damage using diffusion tensor imaging (DTI) method.[ncbi.nlm.nih.gov]

  • 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[doi.org] This highlights the importance of addressing other possible underlying diseases when evaluating the patient with CPPD and chondrocalcinosis.[clevelandclinicmeded.com] Statistical Analyses Summary statistical results of baseline characteristics of all subjects and stratification by quartiles of uric acid are expressed as percentages for[cjasn.asnjournals.org]

  • Brugada Syndrome

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

  • Arrhythmogenic Right Ventricular Dysplasia

    The disease is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited disease with incomplete penetrance and variable expression.[ncbi.nlm.nih.gov]

  • Asthma

    Asthma is a complex disorder that displays heterogeneity and variability in its clinical expression both acutely and chronically.[ncbi.nlm.nih.gov] 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[patient.info] 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[dx.doi.org]

  • Orthostatic Hypotension

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

  • 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[en.wikipedia.org] 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[doi.org] 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[nature.com]

  • Cardiomyopathy

    The disorder is thought to be inherited in an autosomal dominant fashion with variable penetrance and variable expressivity.[emedicine.com] […] findings Very variable, many patients remain asymptomatic Exercise-induced ventricular arrhythmias palpitations , syncope , possibly sudden cardiac death Atypical chest pain[amboss.com] 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.[emedicine.medscape.com]

  • Gout

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

  • Gastrointestinal Neuroendocrine Tumor

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

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