These data indicate autosomal dominant Alport syndrome as a disease with a low risk of ocular and hearing anomalies but with a significant risk to develop renal failure although at an older age than the X-linked form. We were unable to demonstrate a genotype-phenotype correlation. Altogether, these data make difficult the differential diagnosis with the benign familial haematuria due to heterozygous mutations of COL4A4 and COL4A3, especially in young patients, and with the X-linked form of Alport syndrome in families where only females are affected. A correct diagnosis and prognosis is based on a comprehensive clinical investigation in as many family members as possible associated with a broadly formal genetic analysis of the pedigree.
Amyloidogenic light-chain-derived fibrils induce more severe myocardial dysfunction in light-chain amyloidosis than in ATTR, despite similar myocardial infiltration. Thus, the degree of cardiac dysfunction may be related not only to the amount of amyloid deposited, but also to qualitative differences among fibrils.
This study confirms that a considerable proportion of patients with TBMD have a type IV collagen disorder and that this lesion is not always benign. Thus, families should be investigated carefully whenever possible and patients and affected relatives should be examined periodically for signs of disease progression.
As cardiac symptoms have low severity, AL patients can avoid the disease. However, as cardiac symptoms proceed and interfere with daily activities, they can no longer ignore their signs thus perceiving the severity of their medical condition. This status makes individuals prone to seek less social support and thus to prefer social isolation. Results suggest the need for early psychological support on coping strategies for AL cardiologic patients.
Overall, findings highlight the importance of subjective well-being (e.g. life satisfaction) to reduce anxious and depressive symptoms and to improve general health in AL patients.
Our results show that amyloidosis and systemic hypertension produce both LV twist and untwist rate enhancement before LV hypertrophy is developed. In patients with amyloidosis irrespectively of LV infiltration degree, a significant LV untwisting rate peak delay occurs suggesting that different aetiology of cardiac involvement could differently affect LV untwisting rate.
This study investigates the Il-1 production in vitro by normal peripheral blood monocytes or non-T cells following contact with different dialysis membranes (cuprophan, polysulphone, polymethylmethacrylate and polyacrylonitrile), in the presence or absence of lipopolysaccharide. The results of this study show that the physical contact between dialysis membranes and Il-1 producing cells is not by itself able to induce abundant Il-1 production unless exogenous lipopolysaccharide is added. A modest Il-1 production, however, could be observed with synthetic membranes (polysulphone and polyacrylonitrile), but not with cellulose membranes (cuprophan). Used membranes are completely ineffective as a trigger of Il-1 synthesis.
Our results suggest that there is a need to plan psychological support for these patients with consideration for the onset of cardiac symptoms and symptom severity.
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