Edyta Sutkowska

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.

Lymphoedema-distichiasis syndrome (LDS, OMIM #153400) is a genetic disorder with an autosomal dominant pattern of inheritance caused by mutations in the FOXC2 gene. Affected individuals typically present with lower extremity lymphoedema and distichiasis. The most common types of mutations in FOXC2 gene include small deletions and insertions, but duplications, duplications-insertions, missense and nonsense mutations were also found. Herein, we describe three generations of a family diagnosed with LDS caused by a new mutation in the FOXC2 gene. This mutation is a frameshift due to a deletion of the nucleotides (CC) in C repeats between C590 [corrected] and C595 [corrected]. This mutation leads to protein truncation as a result of an earlier insertion of a stop codon. To the best of our knowledge, this is the first description of this mutation in the literature and could be coupled with an atypical lymphoscintigram.

Knowledge and selected variables as determinants of the quality of life and general health of patients with rheumatoid arthritis

BACKGROUND Rheumatoid arthritis (RA) is an incurable disease resulting in progressive disability, which is associated with the loss of productivity and the inability to earn money, which might lead to a financial burden on the patients family. Undoubtedly, the clinical picture of the disease and its consequences lead to the reduction of the quality of life. OBJECTIVES The aim of this study is to evaluate the influence of selected factors on the subjective assessment of the quality of life and general health of patients with RA. MATERIAL AND METHODS The study was conducted among 270 patients with RA treated at the Department of Rheumatology and Internal Medicine. The quality of life and general health were assessed with the use of the SF-36 and the GHQ-30 questionnaires. RESULTS In the study group, a statistically significant correlation between the results of the SF-36 and the GHQ-30 questionnaires was observed. It has been shown that the level of role limitations due to physical health problems (RP) is mostly affected by interpersonal relationships based on GHQ-30 questionnaire (p = 0.002), general health (GHQ-30) (p = 0.001) and subjective health condition (SF-36) (p < 0.001). In contrast, general health (GHQ-30) is positively affected by education (p = 0.003) and professional activity (p = 0.001), and negatively affected by a positive family history of RA (p = 0.002), frequent hospitalization (p = 0.008) and poor subjective health condition (p < 0.001). CONCLUSIONS People with poor subjective health condition are characterized by more limited activity due to physical health and lower general health condition. General health (GHQ-30) in patients with rheumatoid arthritis is influenced by education, place of residence, professional work, family history of RA and subjective health status.

Impact of Kinesio Taping application on pregnant women suffering from pregnancy-related pelvic girdle pain — preliminary study

OBJECTIVES The aim of the study was to assess the impact of pregnancy-related pelvic girdle pain on every day functioning and evaluate how effective Kinesio Taping is in reducing pain for pregnant women. MATERIAL AND METHODS 24 women filled the authors questionnaire, Oswestry Disability Index Questionnaire and Pelvic Girdle Questionnaire before starting the therapy. Elastic tape was applied onto the lumbosacral area for 5 days and was evaluated 1st day of the test immediately before application, day 2, 3, 4, 5, 6 and 10 day of the examination. RESULTS ODI score was 20.09 and showed major disability resulting from severity of the pain. PGQ score was 19.909. Sig-nificant pain reduction was registered on the 3rd day after tape was applied, significant pain reduction on the day of tape removal, and 5 days after tape removal. CONCLUSIONS Elastic tape decreases pain in pregnancy-related pelvic girdle pain. Pelvic girdle pain deteriorates the quality of life for pregnant women.

TCT-325 The effects of types of guidewires and pressure applied during stent implantation in the main vessel on the incidence of damage to coronary guidewires during angioplasty of coronary bifurcation lesions - Wide Beast study

AAST Grande Ospedale Metropolitano Niguarda, Milano, Milan, Italy; AAST Grande Ospedale metropolitano Niguarda Cà Granda, Milano, Milan, Italy; AAST Grande Ospedale Metropolitano Niguarda; AAST Grande Ospedale Metropolitano Niguarda, PIACENZA, Italy; Unknown, Milan, Milan, Italy; Niguarda Hospital; Niguarda Hospital, Milan, Milan, Italy; Niguarda Hospital; Ospedale Niguarda; Hospital U. Central de la Defensa Gómez Ulla

LEFT ATRIAL STASIS AND VWF-ADAMTS 13 SYSTEM IN AATRIAL FIBRILLATION

Abstract Category: PCI - Valvular; Atrial Fibrillation TherapiesPresentation Number: 2505-439Authors: Waldemar E. Wysokinski, Ewa Konik, Robert D. McBane, II, Susan J. Eifert Rain, Dong Chen, Edyta Sutkowska, Thomas G. McLeod, Paul A. Friedman, Naser M. Ammash, Mayo Clinic, Rochester, MNBackground: Stasis within the left atrial appendage (LAA) is associated with increased risk of left atrial appendage thrombus (LAAT) and stroke in atrial ibrillation (AF). The thrombogenic propensity of von Willebrand factor (VWF) is directly proportional to multimer size regulated by VWF-cleaving protease (ADAMTS-13).Methods: To assess the association between LAA blood stasis and VWF-ADAMTS 13, we measured VWF antigen (VWF Ag) by ELISA, VWF activity (VWF Act) by immunoturbidimetry and ADAMTS 13 activity by ACTIFLUOR assay in 425 consecutive patients with non-valvular AF (age 6314 years; 25% women). All AF patients underwent TEE to assess left atrial appendage emptying velocity (LAAEV), spontaneous echo contrast (SEC), and LAAT. Data were compared to 100 patients (age 6414 years; 39% women) with normal sinus rhythm (NSR).Results: A direct relationship was noted between VWF (Ag and Act) and intensity of SEC (Figure). No relationship was observed between measures of blood stasis and ADAMTS 13. VWF Ag was one of the strongest determinants of LAAT (c-stat=0.711, p=0.0015) together with LAAEV (c-stat=0.959, p=0004) and heart failure (c-stat=0.715, p<0.0001). CONCLUSSION. A direct correlation exists between VWF and the severity of LAA blood stasis in AF patients. Elevated VWF:Ag may identify AF patients at risk for LAAT.