Standard karyotyping - a look through the European guidelines

Standard karyotyping is a method for genetic testing for chromosomal aberrations, based on specific clinical indications. Despite the progress in the field of molecular genetic testing, it still remains the first choice for genetic testing in developing countries due to financial and economic factors. In 2019, the latest European guidelines for constitutional cytogenomic analysis were released. They include general and specific guidelines for pre-analytical recommendation, sample preparation, analysis and reporting. Possibilities, limitations and minimum requirements for specific genetic testings are listed. Following the established European guidelines for genetic analysis and/or re-contacting patients with a possible genetic diagnosis will provide up-to-date medical service. Each laboratory should apply validated protocols for testing, based on the newly introduced recommendations by leading in the field organizations.Standard karyotyping is a method for genetic testing for chromosomal aberrations, based on specific clinical indications. Despite the progress in the field of molecular genetic testing, it still remains the first choice for genetic testing in developing countries due to financial and economic factors. In 2019, the latest European guidelines for constitutional cytogenomic analysis were released. They include general and specific guidelines for pre-analytical recommendation, sample preparation, analysis and reporting. Possibilities, limitations and minimum requirements for specific genetic testings are listed. Following the established European guidelines for genetic analysis and/or re-contacting patients with a possible genetic diagnosis will provide up-to-date medical service. Each laboratory should apply validated protocols for testing, based on the newly introduced recommendations by leading in the field organizations

Granuloma Faciale Effectively Treated with Topical Pimecrolimus

Letter to the editor - no abstract available</p

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Correction to: Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

The original version of this article unfortunately contained a mistake

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Polyamine metabolism changes in psoriasis

Introduction: Polyamines - putrescine, spermidine and spermine are polycationic compounds ubiquitous for all living organisms. They are essential for the cell growth and differentiation, the control of cell cycle progress, apoptosis, and cancerogenesis. Accumulated scientific evidence suggests the central role of polyamines in the process of keratinocytic proliferation, differentiation, and regulation. Objective: To elucidate the polyamine metabolic changes that occur in benign keratinocytic proliferation. Fifty eight patients were enrolled in the study, 31 with plaque-form of psoriasis vulgaris, which had been referred to as a model of benign keratinocytic proliferation, and 27-healthy controls. Materials and Methods: An original, innovative chromatographic method was used to detect the levels of putrescine, spermidine, and spermine in all skin samples. Results: Were significantly proven ( P < 0.05). No difference was found between the polyamines levels of non-lesional psoriatic skin and healthy controls. Psoriatic lesions showed a two-time higher concentration of all polyamines in lesional, compared to non-lesional skin. Spermine had the highest concentration and highest proliferation trend, which demonstrated the importance of propylamine synthesis in the pathogenesis of psoriasis. Spermine highest concentrations suggested the leading role of adenosine methionine decarboxylase (AMDC) in the pathogenesis of benign keratinocytic proliferations. Conclusions: Non-lesional skin in psoriatic patients did not show latent changes in polyamine metabolism. Psoriatic lesions demontrated two-time higher levels of the most essential biogenic polyamines compared to healthy controls. The highest level of spermine proved the crucial role of AMDC in the polyamine metabolism changes in psoriasis. Future therapeutic approaches should be focused on reduction of exogenic spermine intake, utilizing new spermine blockers, and synthesis of AMDC inhibitors

Cytogenetic and Molecular Cytogenetic Markers in Patients with Multiple Myeloma - Prognostic Significance // Цитогенетични и молекулярно-цитогенетични маркери при пациенти с множествен миелом – прогностично значение

Multiple myeloma is a debilitating disease representing a significant health problem. The study included 110 patients analysed in the Laboratory of Medical Genetics at St. Marina University Hospital – Varna. Conventional cytogenetic analysis was performed at diagnosis in 97 of the patients. It was successful in 83 of them, and in 14, no metaphases were found for analysis despite culture. Of the 83 successfully performed analyses, the karyotype was normal in 69 and aberrant in 14. Depending on the chromosome set, two groups of patients with an aberrant karyotype were identified: 5 patients with a hyperdiploid karyotype and eight patients with a non-hyperdiploid karyotype. Apart from these groups, a deletion in chromosome 16 was found in 1 patient in all metaphases. We found a statistically significant difference between those with normal and pathological karyotypes and the percentage of plasma cells in the bone marrow. A total of 30 patients were successfully analysed by FISH; the combination of CG and FISH was applied in 17 of them, and the remaining 13 were analysed by FISH alone. In 9 patients, FISH was performed only to look for del(17)(p13); in 6, a deletion was found, and in the remaining 3, the results were normal. FISH looking only for the rearrangement in the IGH gene in the 14q32 region was performed in 6 patients; the result was normal. In 15 patients, three probes were sequentially applied in different analyses: for del(17)(p13), the translocations t(4;14), and t(14;16). Del(17)(p13) was detected in 3 of them, and no translocations were detected.Множественият миелом е инвалидизиращо заболяване представляващо значителен здравен проблем. В проучването са включени 110 пациенти анализирани в лаборатория по Медицинска генетика на УМБАЛ „Св. Марина“-Варна. При поставяне на диагнозата при 97 от пациентите е бил проведен конвенционален цитогенетичен анализ. Той е бил успешен при 83 от тях, а при 14 въпреки култивацията не са открити метафази за анализ. От 83 успешно проведени анализа кариотипа е бил нормален при 69, а при 14 аберантен. В зависимост от хромозомния набор се установяват две групи пациенти с аберантен кариотип:5 пациента с хипердиплоиден кариотип и 8 пациента с нехипердиплоиден кариотип. Отделно от тези групи при 1 пациент във всички метафази е открита делеция в 16 хромозома. При всички пациенти е извършена и аспирационна биопсия на костен мозък. Открихме статистически значима разлика между тези с нормален и с патологичен кариотип, и процента плазматични клетки. С FISH са анализирани успешно общо 30 пациенти, комбинацията ЦГ и FISH е била приложена при 17от тях, а останалите 13 са анализирани само с FISH. При 9 пациента е проведен FISH само за търсене на del(17)(p13), при 6 е открита делеция, а при останалите 3 резултата е нормален. FISH за търсене само на преустройство в IGH гена в района 14q32 е проведен при 6 пациента, резултата е нормален при всички. При 15 пациента са приложени последователно в различни анализи три сонди: за del(17)(p13), транслокациите t(4;14) и t(14;16). При 3 от тях е открита del(17)(p13), а транслокации не са установени

Концерт на ансамблот „КонТемпора“ во рамки на програмата „Современи европски композитори“

На 23 мај (вторник) во Музејот на Град Скопје со почеток во 19:30 часот ќе се одржи концерт на Ансамблот за современа музика „КонТемпора“. Концертот е дел од програмата „Современи европски композитори“ која СОКОМ ја реализира во соработка и со поддршка на Делегацијата на Европската Унија и за оваа прилика, со Амбасадата на Унгарија во Република Македонија. Дополнителните настани во рамките на програмата се предвидени за 22 мај (понеделник) во ЕУ Инфо центарот во Скопје, каде со почеток во 11 часот ќе се одржи предавање на композиторите Мартон Левенте Хорват и Горан Начевски на тема: „Музика - минато, сегашност и иднина, како да се најде сопствениот начин: како да избегаме?“, во 12 часот пак на youtube каналот на СОКОМ премиерно ќе биде прикажан документарниот филм „Европски современи композитори“ посветен на првите три изданија на проектот. Во 17 часот, пак, во просториите на Сојузот на композиторите на Македонија е предвидена студентска работилница со композиторот Мартон Левенте Хорват, професор на престижната музичка академија „Франц Лист“ од Будимпешта. Координатор на проектот е композиторката Валентина Велковска-Трајановска. На програмата на концертот на ансамблот „КонТемпора“ се дела од композиторите Жолт Сереи, Мартин Левенте Хорват, Јудит Варга, како и од македонскиот композитор Горан Начевски. Ансамблот „КонТемпора“ ќе настапи во состав Игор Иванов – кларинет, Златка Митева - флејта, Горан Јанев – хорна, Симон Поповски – виолина, Бојан Талески – виола, Паскал Р. Краповски – виолончело, Ана Гацева – пијано, Весна Станојевска – харфа

Immunohistochemical evaluation of venous leg ulcers before and after negative pressure wound therapy

Venous leg ulcers represent a medical challenge. Whenever possible, therapy should be causal and include compression therapy and surgery. Negative pressure wound therapy (NPWT) has been successfully used in several phases of venous leg ulcer treatment. Positive effects of NPWT, such as reduction of edema, drainage of wound exudate, and ac- celeration of granulation tissue formation, are reasons for recommending NPWT in order to improve healing rates

Концерт на дувачкиот квинтет КонТемпора со гостин пијано изведувач

Concert program: Vulnet Tairi (1982): Four pieces Georgia Kalodiki (1975): Compositions for piano Marin Goleminov (1908): Quintet for woodwind instruments Georgia Kalodiki (1975): Compositions for piano Stojan Stojkov (1941): M..S..A Valentina Velkovska-Trajanovska (1976): Black sun Ljubomir Brandjolica (1932): Wind quintet on revolutionary songs Georgia Kalodiki (1975): Compositions for pian