ACTN3's R577X Single Nucleotide Polymorphism Allele Distribution Differs Significantly in Professional Football Players according to Their Field Position

IntroductionFootball is characterised by intermittent high-intensity efforts varying according to the field position of a player. We aimed to ascertain whether polymorphisms in the ACTN3 gene are associated with different playing positions in elite professional football players.Subjects and MethodsGenotyping of the ACTN3 gene was conducted in 43 elite professional football players of a single team. Playing position was recorded based on the player''s most frequent position.ResultsThe genotype distribution was not significant between positions (p = 0.057), while the allele distribution differed significantly (p = 0.035). Goalkeepers (p = 0.04, p = 0.03), central defenders (p = 0.03, p = 0.01), and central midfielders (p = 0.01, p = 0.00) had a significantly different allele distribution compared with wide midfielders and forward players.ConclusionsGenetic biomarkers may be important when analysing performance capability in elite professional football. Identifying the genetic characteristics of a player to adapt his playing position may lead to orientation of positions based on physical capabilities and tissue quality in young football players, and also to performance enhancement in those who are already playing in professional teams.     

Bone marrow transplantation from HLA-identical siblings as treatment for myelodysplasia

Allogeneic hematopoietic stem cell transplantation is the only curative therapy for myelodysplasia (MDS). To identify factors influencing transplantation outcome, we studied 452 recipients of HLA-identical sibling transplants for MDS from 1989 to 1997, reported to the International Bone Marrow Transplant Registry. Patients with treatment-related MDS or unclassified MDS were excluded. Median age was 38 years (range, 2-64 years). Sixty percent had refractory anemia with excess blasts (n = 136) or with excess blasts in transformation (n = 136). Conditioning regimens included total body irradiation in 199 (44%) cases. Marrow was T-cell depleted for 58 (13%) transplants. Cumulative incidences of neutrophil engraftment, grades II-IV acute graft-versus-host disease (GVHD), and chronic GVHD were 91% (95% confidence interval [CI], 88%-93%), 36% (95% CI, 31%-40%), and 39% (95% CI, 33%-44%), respectively. Three-year transplantation-related mortality (TRM), relapse, disease-free survival, and overall survival rates were 37% (95% CI, 32%-42%), 23% (95% CI, 19%-27%), 40% (95% CI, 36%-45%), and 42% (95% CI, 37%-47%), respectively. Multivariate analyses showed that young age and platelet counts higher than 100 x 10(9)/L at transplantation were associated with lower TRM and higher disease-free and overall survival rates. Relapse incidence was higher in patients with high percentages of blasts in the marrow at transplantation or presentation, with high International Prognostic Scoring System scores at diagnosis, and with T-cell-depleted transplants. These findings indicate that transplantation from an HLA-identical sibling offers the possibility of long-term, disease-free survival to patients with MDS. Best candidates are younger patients with a low percentage of blasts and preserved platelet counts.     

Mechanical and thermal hyperalgesia in patients with poliomyelitis

ObjectiveParalytic poliomyelitis (pPM) is clinically suspected in individuals experiencing a non-progressive syndrome of flaccid paralysis and atrophy as a sequel of an acute infection. Despite normal sensory perception, patients with pPM complain of pain more than matched siblings. Here, we studied the characteristics of evoked pain in a cohort of pPM patients using contact heat evoked potentials and psychophysical tests.MethodsFifteen patients with pPM and 15 controls were studied. Inclusion criteria were unilateral or asymmetric involvement of lower extremities. Mechanical, warm and heat pain perception thresholds and evoked pain were measured in both thighs. Contact heat evoked potentials were recorded from the vertex.ResultsMechanical and heat pain thresholds were significantly lower in the affected than in the less-affected leg or in the legs of controls. Evoked pain ratings were significantly higher in the affected leg than in either the less-affected leg or in controls. Evoked potentials were significantly higher in the affected than in the less-affected leg.ConclusionPatients with pPM have mechanical and thermal hyperalgesia, which suggests abnormalities in processing of somatosensory inputs in these patients.SignificanceThis phenomenon should be taken into account in the routine clinical evaluation and management of pPM patients.