Wpływ poziomu sprawności fizycznej na dolegliwości w zespole bólowym kręgosłupa

Introduction: Spine pain syndrome, which significantly limits everyday functioning, is one of the most common symptoms of musculoskeletal disorders. The aim of this study is to assess the impact physical fitness has on the symptoms of back pain syndrome. Material Methods: A EUROFIT fitness testing battery was used to assess the fitness level of 34 participants with back pain. Measurements of aerobic fitness, lateral and sagittal mobility, strength, movement speed and precision were recorded, and the pain levels of the participants were taken into account. Results: No statistically significant impact of physical fitness on back pain was noted. Conclusions: Physical activity and fitness do not impact on the symptoms of back pain syndrome in any significant way. Further research into back pain syndrome is required in the future.Wprowadzenie: Zespół bólowy kręgosłupa, który znacznie ogranicza codzienne funkcjonowanie, jest jednym z najczęstszych objawów schorzeń narządu ruchu. Celem pracy była ocena wpływu sprawności fizycznej na objawy zespołu bólowego pleców. Materiał i metody: Badaniami objęto 34 osoby cierpiące z powodu bólu pleców. W tym celu posłużono się baterią testów sprawnościowych EUROFIT. Pomiary wydolności tlenowej, ruchomości bocznej i strzałkowej, siły, szybkości i precyzji ruchu zostały zebrane i porównane z poziomem bólu uczestników badania. Wyniki: Nie stwierdzono statystycznie istotnego wpływu sprawności fizycznej na ból pleców. Wnioski: Aktywność fizyczna i sprawność fizyczna nie wpływają w znaczący sposób na objawy zespołu bólowego pleców. W przyszłości potrzebne są dalsze badania nad zespołem bólowym pleców

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family

International audienceMental retardation (MR) affects approximately 2% of the population. About 10% of all MR cases result from defects of X-linked genes. Mutations in most of more than 20 known genes causing nonspecific form of X-linked MR (MRX) are very rare and may account for less than 0.5-1% of MR. Linkage studies in extended pedigrees followed by mutational analysis of known MRX genes in the linked interval are often the only way to identify a genetic cause of the disorder. We performed linkage analysis in several MRX families, and in one family with four males with MR we mapped the disease to an interval encompassing Xp21.2-22.11 (with a maximum LOD score of 2.71). Subsequent mutation analysis of genes located in this interval allowed us to identify a partial deletion of the IL1RAPL1 gene. Different nonoverlapping deletions involving IL1RAPL1 have been reported previously, suggesting that this region could be deletion-prone. In this report, we present the results of the molecular analyses and clinical examinations of four affected family members with the deletion in IL1RAPL1. Our data further confirm the importance and usefulness of linkage studies for gene mapping in MRX families and demonstrate that IL1RAPL1 plays an important role in the etiology of MRX. With the development of new methods (aCGH, MLPA), further rearrangements in this gene (including deletions and duplications) might be discovered in the nearest future

Global economic burden of unmet surgical need for appendicitis

Background There is a substantial gap in provision of adequate surgical care in many low- and middle-income countries. This study aimed to identify the economic burden of unmet surgical need for the common condition of appendicitis. Methods Data on the incidence of appendicitis from 170 countries and two different approaches were used to estimate numbers of patients who do not receive surgery: as a fixed proportion of the total unmet surgical need per country (approach 1); and based on country income status (approach 2). Indirect costs with current levels of access and local quality, and those if quality were at the standards of high-income countries, were estimated. A human capital approach was applied, focusing on the economic burden resulting from premature death and absenteeism. Results Excess mortality was 4185 per 100 000 cases of appendicitis using approach 1 and 3448 per 100 000 using approach 2. The economic burden of continuing current levels of access and local quality was US $92 492 million using approach 1 and$73 141 million using approach 2. The economic burden of not providing surgical care to the standards of high-income countries was $95 004 million using approach 1 and$75 666 million using approach 2. The largest share of these costs resulted from premature death (97.7 per cent) and lack of access (97.0 per cent) in contrast to lack of quality. Conclusion For a comparatively non-complex emergency condition such as appendicitis, increasing access to care should be prioritized. Although improving quality of care should not be neglected, increasing provision of care at current standards could reduce societal costs substantially

Global economic burden of unmet surgical need for appendicitis

Background There is a substantial gap in provision of adequate surgical care in many low- and middle-income countries. This study aimed to identify the economic burden of unmet surgical need for the common condition of appendicitis. Methods Data on the incidence of appendicitis from 170 countries and two different approaches were used to estimate numbers of patients who do not receive surgery: as a fixed proportion of the total unmet surgical need per country (approach 1); and based on country income status (approach 2). Indirect costs with current levels of access and local quality, and those if quality were at the standards of high-income countries, were estimated. A human capital approach was applied, focusing on the economic burden resulting from premature death and absenteeism. Results Excess mortality was 4185 per 100 000 cases of appendicitis using approach 1 and 3448 per 100 000 using approach 2. The economic burden of continuing current levels of access and local quality was US $92 492 million using approach 1 and$73 141 million using approach 2. The economic burden of not providing surgical care to the standards of high-income countries was $95 004 million using approach 1 and$75 666 million using approach 2. The largest share of these costs resulted from premature death (97.7 per cent) and lack of access (97.0 per cent) in contrast to lack of quality. Conclusion For a comparatively non-complex emergency condition such as appendicitis, increasing access to care should be prioritized. Although improving quality of care should not be neglected, increasing provision of care at current standards could reduce societal costs substantially