Functions and potential of lipocalin-2 as fecal biomarker for acute gastrointestinal infections (review of literature).

Despite the visible progress in reducing morbidity and mortality from intestinal infections and acute diarrhea associated with them, especially in childhood, the problem of their diagnosis and treatment remains relevant. The article discusses the structure, function and application of lipocalin-2 in infectious diseases as a non-invasive biomarker of bacterial inflammation in the intestine.

[HISTORY OF GYNECOLOGICAL DISORDERS, OBSTERIC PATHOLOGY AND ANDROGEN LEVELS AS PROGNOSTIC FACTORS AND INDICES OF MYOCARDIAL INJURY AMONG POSTMENOPAUSAL WOMEN WITH ACUTE CORONARY SYNDROME.]

The study ob]ective was assessment of pathogenetic and prognostic significance of gynecologic and obstetrical pathology and the concentrations of sex steroids in adult women with acute coronaty syndrome (ACS). The study group included 120 postmenopausal women with ACS treated in the Clinic of Cardiology, University Hospital "Alexandrovska" between 2011 and 2013. Sex hormones were measured in 57 patients. Enzyme, electrochemiluminescent, enzyme-linked immunologic and immunoturbodimeric methods were used for the examined indices assessment. The history for gynecologic disorders and pregnancy complications was associated with coronaiy atherosclerotic burden (SYNTAX score - 4,6+/-8,8 vs 8,5+/-9,3, p=0,003), gynecologic history only - with lower 17Beta-estradiol levels (139,01+/-167,66 vs 113,51+/-304,1, p=0,004) and coronaly atherosclerosis severity (5,5+/-9,3 vs 8,0+/-10,3, p=0,058). Abnormally high endogenous concentrations of androgens were found among the patients with ACS with ST elevation, STEMI (27,5% vs 77,8%, p=0,004), with significantly more intense acute infiammatoty response (8,7+/-3,21 vs 11,07+/-2,85, p=0,044 3a WBC) and more extensive acute myocardial damage (57,8+/-12,6 vs 45,3 ml, p=O,OO8 for e]ection fraction 33,7+/-37,4 vs 117+/-144,22 U/L, p=0,031 for CPK-MB; 0,89+/-8 18 vs 1,87+/-0,4 ng/ml, p=0,009 for hsTnT). The gynecologic and obstetrical history and hyperandrogenism are related to the extent and severity of coronary atherosclerosis, occurrence of STEMI, more intense acute inflammatory response and myocardial injury among postmenopausal women with ACS.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.

OBJECTIVE: In this study, we investigated the detailed clinical findings and underlying genetic defect in 3 presumably related Bulgarian families displaying dominantly transmitted adult onset distal myopathy with upper limb predominance. METHODS: We performed neurologic, electrophysiologic, radiologic, and histopathologic analyses of 13 patients and 13 at-risk but asymptomatic individuals from 3 generations. Genome-wide parametric linkage analysis was followed by bidirectional sequencing of the filamin C (FLNC) gene. We characterized the identified nonsense mutation at cDNA and protein level. RESULTS: Based on clinical findings, no known myopathy subtype was implicated in our distal myopathy patients. Light microscopic analysis of affected muscle tissue showed no specific hallmarks; however, the electron microscopy revealed changes compatible with myofibrillar myopathy. Linkage studies delineated a 9.76 Mb region on chromosome 7q22.1-q35 containing filamin C (FLNC), a gene previously associated with myofibrillar myopathy. Mutation analysis revealed a novel c.5160delC frameshift deletion in all patients of the 3 families. The mutation results in a premature stop codon (p.Phe1720LeufsX63) that triggers nonsense-mediated mRNA decay. FLNC transcript levels were reduced in muscle and lymphoblast cells from affected subjects and partial loss of FLNC in muscle tissue was confirmed by protein analysis. CONCLUSIONS: The FLNC mutation that we identified is distinct in terms of the associated phenotype, muscle morphology, and underlying molecular mechanism, thus extending the currently recognized clinical and genetic spectrum of filaminopathies. We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans.