Antibodies to hnRNP core proteins inhibit in vitro splicing of human β-globin pre-mRNA

In vitro splicing of human beta-globin pre-mRNA can be fully inhibited by treatment of the splicing extract with polyclonal antibodies against hnRNP core proteins prior to the addition of pre-mRNA. Inhibition of the first step in the splicing pathway, cleavage at the 5' splice site and lariat formation, requires more antibodies than inhibition of the second step, cleavage at the 3' splice site and exon ligation. The anti-hnRNP antibodies can also inhibit the splicing reaction after the formation of the active nucleoprotein splicing complex which is known to occur during the initial lag period. Thus, hnRNP core proteins appear to be present in the complex that performs pre-mRNA splicing

Factors associated with quality of life in systemic sclerosis: a cross-sectional study

© 2019, The Author(s). Introduction: Systemic sclerosis (SSc) is a connective tissue disease characterized by progressive fibrosis of the skin and internal organs, leading to their failure and disturbances in the morphology and function of blood vessels. The disease affects people in different ways, and identifying how the difficulties and limitations are related to quality of life may contribute to designing helpful interventions. The aim of this study was to identify factors associated with quality of life in people with SSc. Methods: This was a cross-sectional study conducted in 11 rheumatic centres in Poland. Patients diagnosed with SSc were included. Quality of life was measured using the SSc Quality of Life Questionnaire (SScQoL). The following candidate factors were entered in preliminary multivariable analysis: age, place of residence, marital status, occupational status, disease type, disease duration, pain, fatigue, intestinal problems, breathing problems, Raynaud’s symptoms, finger ulcerations, disease severity, functional disability, anxiety and depression. Factors that achieved statistical significance at the 10% level were then entered into a final multivariable model. Factors achieving statistical significance at the 5% level in the final model were considered to be associated with quality of life in SSc. Results: In total, 231 participants were included. Mean age (SD) was 55.82 (12.55) years, disease duration 8.39 (8.18) years and 198 (85.7%) were women. Factors associated with quality of life in SSc were functional disability (β = 2.854, p < 0.001) and anxiety (β = 0.404, p < 0.001). This model with two factors (functional disability and anxiety) explained 56.7% of the variance in patients with diffuse SSc and 73.2% in those with localized SSc. Conclusions: Functional disability and anxiety are significantly associated with quality of life in SSc. Interventions aimed at improving either of these factors may contribute towards improving the quality of life of people with SSc

Recommendations of the European League Against Rheumatism - implications for nursing care

Przewlekłe choroby reumatyczne o postępującym i zróżnicowanym przebiegu często prowadzą do dużych deficytów w sferze funkcjonowania fizycznego, emocjonalnego i społecznego. Postępowanie terapeutyczne w schorzeniach reumatycznych jest kompleksowe, wymaga współdziałania nie tylko zespołu terapeutycznego, ale również pacjenta i rodziny w uzyskaniu jak najlepszych efektów terapeutycznych, przy najmniejszej szkodliwości dla zdrowia i życia pacjenta. Istotną rolę w przygotowaniu do życia z przewlekłą chorobą przypisuje się edukacji pielęgniarskiej. Przygotowanie chorego/rodziny do samoopieki powinno uwzględnić metody walki z bólem, radzenia w stanach zaostrzenia choroby oraz przystosowania chorego i środowiska do życia z kalectwem. Pielęgniarki zrzeszone w Europejskiej Lidze Przeciwreumatycznej (EULAR) podjęły próbę ujednolicenia niektórych procedur w zakresie opieki reumatologicznej. Celem pracy jest przedstawienie zaleceń EULAR dotyczących pielęgnowania chorych ze schorzeniami reumatycznymi, ze szczególnym uwzględnieniem reumatoidalnego zapalenia stawów i choroby zwyrodnieniowej stawów, na podstawie doświadczeń z pobytu szkoleniowego w Narodowym Centrum Pielęgniarstwa w Brnie. Wydaje się, że ujednolicenie europejskich standardów opieki wpłynie na lepszą jakość świadczonych usług pielęgniarskich i wyższy standard życia pacjentów. Problemy Pielęgniarstwa 2010; 18 (2): 232-238Chronic rheumatic diseases, which have a progressive and diversified progress, often lead to serious physical, emotional and social handicaps. A therapeutic procedure in rheumatic diseases is complex and requires the cooperation of not only the therapeutic team, but also the patient and his/her family in order to achieve the best therapeutic effects with the smallest possible side-effects for the patient&#8217;s health and life. The nursing education is known to play a significant role in the preparation to life with a chronic disease. The preparation of the patient/their family to self-care should include the methods of pain relief, coping with disease aggravation periods and the adaptation of patients and their environment to living with the handicap. The nurses associated in the European League Against Rheumatism (EULAR) have made an attempt at the standardization of certain procedures related to rheumatologic care. The objective of this study is to present the recommendations of EULAR concerning the nursing of patients with rheumatic diseases and in particular - rheumatoid arthritis and osteoarthritis, basing on the experience gained during a training session at the National Nursing Centre in Bern. It seems that the unification of the European standards of care will help to improve the quality of nursing services and result in a higher quality of life for patients. Nursing Topics 2010; 18 (2): 232-23

Ocena stanu funkcjonalnego pacjentów geriatrycznych wyznacznikiem zakresu opieki pielęgniarskiej

Background. The aim of the work was to evaluate the functional condition of elderly people hospitalized at the Geriatrics Ward and to determine the scope of their nursing needs.Material and method. Survey-based research was carried out among a group of 100 patients 60 years of age or older, consecutively admitted to the Geriatrics Ward of the MSW (Ministry of Interior) Hospital in Białystok. The study tool was standardized questionnaires for the evaluation of elderly people’s condition. Self-care was assessed on the basis of the Barthel scale, the ability to perform complex daily living activities, on the basis of questions from the I-ADL scale, the risk ofbedsores, according to the Norton scale, the emotional state, on the basis of the Geriatric Depression Scale according to Yesavage’a, the cognitive functions, on the basis of the AMTS, and the fall risk, on the basis of the Tinetti test. The research was supplemented with a self-constructed survey questionnaire enquiring about socio-demographic data and self-evaluation of the respondents’ health. Statistical analysis was performed with the use of STATISTICA v. 13.0 statistical package. The p value lower than 0.05 was regarded as statistically significant difference.Results. The elderly persons participating in the study were characterized with an advanced age, poor health condition and complex disability. Three fourths of the subjects were seriously dependent on others’ help in performing complex daily living activities. More than a half (60.0%) of the studied elderly people displayed an abnormal result regarding the emotional state, and 42.0%, regarding cognitive functions. Every second person ran a high risk of falling and developing bedsores.Conclusions. Advanced age, deteriorating health and complex disability increase the need for care. Evaluation of the functionalcondition of elderly people with the use of standardized questionnaires is a significant indicator of the requirednursing care.Wstęp. Celem pracy była ocena sprawności funkcjonalnej osób starszych hospitalizowanych na Oddziale Geriatrii Szpitala MSW w Białymstoku i określenie spektrum problemów pielęgnacyjnych.Materiał i metody. Badania kwestionariuszowe przeprowadzono w grupie 100 osób w wieku 60 lat i starszych kolejno przyjmowanych na Oddział Geriatrii Szpitala MSW w Białymstoku. Narzędziem badawczym były standaryzowane kwestionariuszeoceny osób starszych. Sprawność samoobsługową oceniano na podstawie Indeksu Barthel, zdolność do wykonywania złożonych czynności życia codziennego, opierając się na pytaniach skali I-ADL, ryzyko rozwoju odleżyn (skala Norton), stan emocjonalny (Geriatryczna Skala Oceny Depresji) według Yesavage’a, stan funkcji poznawczych (test AMTS, Abbreviated Mental Test Score), ryzyko upadków (test Tinetti). Uzupełnieniem był kwestionariusz ankietowy własnej konstrukcji indagujący o dane społeczno-demograficzne i samoocenę stanu zdrowia. Analizę statystyczną przeprowadzono za pomocąpakietu statystycznego STATISTICA v. 13.0. Za różnicę znamienną statystycznie przyjęto wartość p &lt; 0,05.Wyniki. Badane osoby starsze prezentowały zaawansowany wiek, zły stan zdrowia i złożony charakter niesprawności. Trzy czwarte badanych osób starszych było poważnie zależnych od pomocy osób drugich w zakresie wykonywania złożonych czynności życia codziennego. U ponad połowy (60%) badanych osób starszych stwierdzono nieprawidłowy wynik w zakresie stanu emocji, zaś u 42% w ocenie funkcji poznawczych. Co druga badana osoba była zagrożona dużym ryzykiem upadku i rozwojem odleżyn.Wnioski. Zaawansowany wiek, pogarszający się stan zdrowia, złożona niesprawność zwiększają zapotrzebowanie na opiekę. Ocena stanu funkcjonalnego osób w starszym wieku dokonywana za pomocą standaryzowanych kwestionariuszy jest istotnym wyznacznikiem zakresu opieki pielęgniarskiej

Repair of thalassemic human β-globin mRNA in mammalian cells by antisense oligonucleotides

In one form of β-thalassemia, a genetic blood disorder, a mutation in intron 2 of the β-globin gene (IVS2-654) causes aberrant splicing of β-globin pre-mRNA and, consequently, β-globin deficiency. Treatment of mammalian cells stably expressing the IVS2-654 human β-globin gene with antisense oligonucleotides targeted at the aberrant splice sites restored correct splicing in a dose-dependent fashion, generating correct human β-globin mRNA and polypeptide. Both products persisted for up to 72 hr posttreatment. The oligonucleotides modified splicing by a true antisense mechanism without overt unspecific effects on cell growth and splicing of other pre-mRNAs. This novel approach in which antisense oligonucleotides are used to restore rather than to down-regulate the activity of the target gene is applicable to other splicing mutants and is of potential clinical interest

Prevention of the musculoskeletal system’s dysfunction based on the example of Prevention Program of Spinal Pain Syndrome in Nursing Staff

Background Most of the medical activities, which are work-related, both static and dynamic are performed by nurses in a forced position. Excessive and improper strain of the musculoskeletal system, especially when lifting and moving patients, is the cause of many injuries of the musculoskeletal system. The work presents the implementation and evaluation of the program concerning the prevention of dysfunction on the part of the musculoskeletal system, addressed to professionally active nurses. Material and Methods The questionnaire was addressed to 125 professionally active nurses, working in conservative units (92%) and outpatient care (8%), suffering from musculoskeletal system dysfunctions, qualifying for the preventive program (ultimately 65 respondents joined the program). The research method was a diagnostic survey, using: the World Health Organization Quality of Life-BREF (WHOQOL-BREF) (scale results are in the range of 4−20 pts), 5-point scale to assess the frequency and intensity of pain and body mass index (BMI). Results The average age of the studied group is 46.6 years old (±8.6), work experience 24.3 (±9.8). A total of 57% of respondents reported pain in the musculoskeletal system, the vast majority of which affected the lumbar spine (89.2%). Constantly occurring complaints were characteristic for nurses, whose average age was 49.5 years (p = 0.0001) and with work experience over 27 years (p = 0.0002), with a BMI value (≥ 25) (p = 0.0038). The average quality of life results were significantly dependent on the intensity of pain (p < 0.05). Conclusions The research shows that pain, escalating with age and duration of the professional activity is a significant factor in lowering the quality of nurses’ life. The severity and frequency of experienced ailments significantly decreased after participating in kinesitherapeutic activities. Med Pr. 2019;70(2)189–9

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

Mononuclear cells from peripheral blood of thalassemic patients were treated with morpholino oligonucleotides antisense to aberrant splice sites in mutant β-globin precursor mRNAs (pre-mRNAs). The oligonucleotides restored correct splicing and translation of β-globin mRNA, increasing the hemoglobin (Hb) A synthesis in erythroid cells from patients with IVS2–654/β(E), IVS2–745/IVS2–745, and IVS2–745/IVS2–1 genotypes. The maximal Hb A level for repaired IVS2–745 mutation was ≈30% of normal; Hb A was still detectable 9 days after a single treatment with oligonucleotide. Thus, expression of defective β-globin genes was repaired and significant level of Hb A was restored in a cell population that would be targeted in clinical applications of this approach

The assessment of the risk of falling and functional mobility of the elderly in their living environment

Wstęp. Upadki są główną przyczyną urazów osób starszych i związanej z nimi niepełnosprawności, chorobowości oraz śmiertelności. Celem pracy była ocena wydolności funkcjonalnej i stopień narażenia na upadki oraz zdolności zachowania równowagi u osób starszych w środowisku zamieszkania.Materiał i metody. Badania przeprowadzono wśród 100 losowo wybranych osób powyżej 65. roku życia w środowisku zamieszkania. W badaniach wykorzystano standaryzowane narzędzia badawcze: Index Barthel, Geriatryczna Skala Depresji, Test „wstań i idź” i Test stania na jednej nodze.Wyniki. Średnia wieku w badanej grupie wynosiła 80,6 ± 6,4 lat. W najstarszej grupie wiekowej 81–90 lat zagrożenie upadkiem było istotnie statystycznie większe (p = 0.003) w porównaniu z młodszymi grupami wiekowymi. Poza tym żadna z badanych osób nie wykonała samodzielnie testu równowagi (p = 0.02). Wśród badanych z rozpoznanym otępieniem aż u 89% występuje duże ryzyko upadku (p &lt; 0,05) w porównaniu z grupą osób beż otępienia. Nie stwierdzono istotnie statystycznej zależności pomiędzy wiekiem a zdolnością zachowania równowagi w grupie mężczyzn.Wnioski. Występowanie otępienia w dużym stopniu wpływa na zwiększone ryzyko upadku oraz mniejszą zdolność zachowania równowagi. Wraz z wiekiem występuje stopniowe pogorszenie sprawności funkcjonalnej. W badanej grupie większą sprawność wykazywali mężczyźni w porównaniu z kobietami.Problemy Pielęgniarstwa 2014; 22 (2): 159–164Introduction. Falls are the major cause of injuries suffered by the elderly and, as a result, their disability, proneness to diseases and mortality. The objective of the study was to assess the functional mobility, the risk of falling and the ability to keep one’s balance by elderly persons in their living environment.Material and methods. The study was conducted among 100 randomly chosen persons over 65 in their living environment. The following standardized research tools were used: Barthel Index, Geriatric Depression Scale, “Timed, Up &amp; Go”, One leg standing test.Results. The average age in the study group was 80.6 ± 6.4 years. In the oldest age group (81–90 years), the risk of falling was statistically significantly higher (p = 0.003) compared to younger age groups. Moreover, none of the subjects were able to do the balance test on their own (p = 0.02). Among the subjects with a diagnosed dementia, as many as 89% had a high risk of falling (p &lt; 0.05) compared to the group of people not affected by dementia. There was no statistically significant relation between the age and the ability to keep one’s balance in the group of men.Conclusions. The occurrence of dementia significantly raises the risk of falling and decreases the ability to keep one’s balance. With age, functional mobility gets worse. In the study group, men had a better functional mobility than women.Nursing Topics 2014; 22 (2): 159–16