A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.

BACKGROUND: Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked form is now classified in the group of copper transport diseases. Autosomal dominant CL is characterized by wrinkled, redundant and sagging, inelastic skin and in some cases is associated with internal organ involvement. CASE PRESENTATION: We report a familial case of autosomal dominant CL, which includes a 33-year-old woman and her 11-year-old son with dry, thin and wrinkled skin that appeared prematurely aged. No serious involvement of internal organs was found. In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. Similar frameshift mutations in the last exons of elastin gene were previously reported in patients with autosomal dominant CL. CONCLUSIONS: Our results show a novel frameshift mutation that was found in patients with cutis laxa. Exome sequencing is effective and useful technology for properly diagnosis of diseases with similar phenotype to ensure proper treatment is provided.

[Modern antidepressants in complex management of patients with hypertension and concomitant affective disorders]. / Sovremennye antidepressanty v kompleksnom lechenii bol'nykh s arterial'noi gipertenziei s soputstvuiushchimi affektivnymi rasstroistvami.

According to results of multiple studies depression and anxiety are found in more than 50% of patients with hypertension. Presence of affective disorders elevates risk of progression of hypertension. That is why complex therapy comprising antihypertensive drugs from various groups and antidepressants takes on higher and higher significance. Modern antidepressants produce no substantial cardiotoxic effects. Combination of an antihypertensive drug (angiotensin converting enzyme inhibitor captopril or beta-adrenoblocker metoprolol) with an antidepressant affects favorably clinical course of hypertension, 24-hour blood pressure profile, characteristics of intracardiac hemodynamics, structural and geometric left ventricular parameters, allows to achieve sufficient antihypertensive effect with acceptable tolerability.