Characteristics of functional movement screening testing in elite handball players: Indicative data from the 9.

OBJECTIVES: To test 9 + screening batterie's intra-rater reliability, to provide indicative data of elite handball players, and to analyze difference between age, playing positions and level of play. DESIGN: Descriptive study. SETTING: Icelandic elite male handball players. PARTICIPANTS: 182 elite male handball players. MAIN OUTCOME MEASURES: Nine + screening battery. RESULTS: Reliability test: Intra-class correlation for the total score was 0.95. The correlation of each of the test factors varied from 0.63 to 0.91. The mean total score was 22.3 ±â€¯2.9 (95%CI 16.7-28.1), with no difference in total score comparing players age or level of play. Goalkeepers displayed a higher total score than other players (F3,151 = 5.75, p = 0.001). Junior players had a lower score than senior players in tests measuring abdominal strength and core stability; Test 5; │2(3, 182) = 41.5, p < 0.0001, Test 6; │2(3, 182) = 55.7, p < 0.0001, Test 7; │2(3, 182) = 11.8, p < 0.005, but higher scores in tests measuring trunk and shoulder mobility Test 8; │2(3, 182) = 18.2, p < 0.0001, Test 9; │2(3, 182) = 22.2, p = 0.006. CONCLUSIONS: The 9+ intra-rater reliability was acceptable for the total score and individual tests. Age-related differences were provided in many individual tests.

Prevention of hamstring strains in elite soccer: an intervention study.

The purpose was to test the effect of eccentric strength training and flexibility training on the incidence of hamstring strains in soccer. Hamstring strains and player exposure were registered prospectively during four consecutive soccer seasons (1999-2002) for 17-30 elite soccer teams from Iceland and Norway. The first two seasons were used as baseline, while intervention programs consisting of warm-up stretching, flexibility and/or eccentric strength training were introduced during the 2001 and 2002 seasons. During the intervention seasons, 48% of the teams selected to use the intervention programs. There was no difference in the incidence of hamstring strains between teams that used the flexibility training program and those who did not [relative risk (RR)=1.53, P=0.22], nor was there a difference compared with the baseline data (RR=0.89, P=0.75). The incidence of hamstring strains was lower in teams who used the eccentric training program compared with teams that did not use the program (RR=0.43, P=0.01), as well as compared with baseline data for the same intervention teams (RR=0.42, P=0.009). Eccentric strength training with Nordic hamstring lowers combined with warm-up stretching appears to reduce the risk of hamstring strains, while no effect was detected from flexibility training alone. These results should be verified in randomized clinical trials.

Defective prevention of immune precipitation in autoimmune diseases is independent of C4A*Q0.

Increased prevalence of C4 null alleles is a common feature of autoimmune diseases. We have shown previously that complement-dependent prevention of immune precipitation (PIP) is defective in patients with systemic lupus erythematosus (SLE), and correlated this defect with C4A*Q0 and low levels of the C4A isotype. To further clarify the role of C4A in the aetiology of SLE, we now extend our studies to other diseases which have been associated with C4A*Q0. The frequency of C4A*Q0 was increased in Icelandic patients with coeliac disease (0.50; P < 0.001), Grave's disease (0.30; P = 0.002) and insulin-dependent diabetes mellitus (0.23; P = 0.04) and in British patients with dermatitis herpetiformis (0.42; P = 0.002) and this was reflected in low levels of C4A. In spite of this, PIP was normal in these patients, and in marked contrast to our previous observations on connective tissue diseases, PIP measurements in these patient groups correlated more strongly with levels of C4B (r = 0.51, P = 0.0000004) than C4A. Patients with increased levels of anti-C1q antibodies had significantly lower PIP than patients without such antibodies (P < 0.01) and a negative association of PIP with anti-C1q antibodies was also reflected in an increased prevalence (P = 0.006) and levels (P = 0.006) of anti-C1q antibodies in patients with subnormal PIP, as well as a negative correlation between PIP and anti-C1q antibodies (r = - 0.25, P = 0.02). These results show that the PIP defect cannot be explained by low levels of C4A alone and suggest that measurements of anti-C1q antibodies may be useful in future studies on the molecular cause of the PIP defect in autoimmune connective tissue disease.

Mechanisms of head injuries in elite football.

OBJECTIVES: The aim of this study was to describe, using video analysis, the mechanisms of head injuries and of incidents with a high risk of head injury in elite football. METHODS: Videotapes and injury information were collected prospectively for 313 of the 409 matches played in the Norwegian (2000 season) and Icelandic (1999 and 2000 season) professional leagues. Video recordings of incidents where a player appeared to be hit in the head and the match was consequently interrupted by the referee were analysed and cross referenced with reports of acute time loss injuries from the team medical staff. RESULTS: The video analysis revealed 192 incidents (18.8 per 1000 player hours). Of the 297 acute injuries reported, 17 (6%) were head injuries, which corresponds to an incidence of 1.7 per 1000 player hours (concussion incidence 0.5 per 1000 player hours). The most common playing action was a heading duel with 112 cases (58%). The body part that hit the injured player's head was the elbow/arm/hand in 79 cases (41%), the head in 62 cases (32%), and the foot in 25 cases (13%). In 67 of the elbow/arm/hand impacts, the upper arm of the player causing the incident was at or above shoulder level, and the arm use was considered to be active in 61 incidents (77%) and intentional in 16 incidents (20%). CONCLUSIONS: This study suggests that video analysis provides detailed information about the mechanisms for head injuries in football. The most frequent injury mechanism was elbow to head contact, followed by head to head contact in heading duels. In the majority of the elbow to head incidents, the elbow was used actively at or above shoulder level, and stricter rule enforcement or even changes in the laws of the game concerning elbow use should perhaps be considered, in order to reduce the risk of head injury.

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

Formation of the secondary palate is a complex step during craniofacial development. Disturbance of the events affecting palatogenesis results in a failure of the palate to close. As a consequence of deformity, an affected child will have problems with feeding, speech, hearing, dentition and psychological development. Cleft palate occurs frequently, affecting approximately 1 in 1,500 births; it is usually considered a sporadic occurrence resulting from an interaction between genetic and environmental factors. Although several susceptibility loci have been implicated, attempts to link genetic variation to functional effects have met with little success. Cleft palate with ankyloglossia (CPX; MIM 303400) is inherited as a semidominant X-linked disorder previously described in several large families of different ethnic origins and has been the subject of several studies that localized the causative gene to Xq21 (refs. 10-13). Here we show that CPX is caused by mutations in the gene encoding the recently described T-box transcription factor TBX22 (ref. 14). Members of the T-box gene family are known to play essential roles in early vertebrate development, especially in mesoderm specification. We demonstrate that TBX22 is a major gene determinant crucial to human palatogenesis. The spectrum of nonsense, splice-site, frameshift and missense mutations we have identified in this study indicates that the cleft phenotype results from a complete loss of TBX22 function.

Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region.

Cleft palate most commonly occurs as a sporadic multifactorial disorder with a clear but difficult to define genetic component. As a semi-dominant disorder, X-linked cleft palate (CPX) provides a useful model to investigate a congenital defect that is little influenced by non-genetic factors. By using an Icelandic kindred, CPX has been localised between DXS1196 and DXS1217 and mapped, in a 3-Mb yeast artificial chromosome contig, at Xq21.3. Markers generated from this physical map have now been used to construct a contig of P1 and bacterial artificial chromosome clones for genomic DNA sequencing. Genomic DNA sequence analysis has revealed two novel expressed genes and two pseudogenes in the order Cen-KLHL4-LAMRL5-CAPZA1P-CPXCR1-Tel. KLHL4 and CPXCR1 are widely expressed in fetal tissues, including the tongue, mandible and palate. DNA mutation screening of CPXCR1 has revealed several sequence variants present on all affected CPX chromosomes. However, these variants have also been detected at a lower frequency on unaffected chromosomes, indicating that they are polymorphisms that are unlikely to cause the CPX phenotype.

Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region.

X-linked cleft palate (CPX) is a rare nonsyndromic form of orofacial clefting that is, unlike more common forms, inherited as a highly penetrant Mendelian trait. Linkage studies using a large Icelandic kindred localized the gene to Xq21.3, and a physical map defining a 2.0-Mb candidate region was subsequently constructed. Genomic sequence is now available for much of the critical region and has been surveyed for potential transcriptional units. Through this analysis, we have identified a novel human homologue of Kelch, KLHL4. The transcript represents a mRNA of approximately 3.6 kb and encodes a protein of 718 amino acids. Protein domain analysis reveals six tandem repeats (Kelch repeats) at the C-terminus and a POZ/BTB protein-binding domain toward the N-terminus, characteristic of Drosophila Kelch and other family members. KLHL4 consists of 11 exons spanning a genomic interval of approximately 150 kb. From EST sequences and RT-PCR analysis, there is evidence for the use of alternative 3' UTRs. The mRNA is expressed in a range of fetal tissues including tongue, palate, and mandible. Mutational analysis in affected CPX patients revealed one sequence alteration that was most likely to be a silent polymorphism.

A study of C4AQ0 and MHC haplotypes in Icelandic multicase families with systemic lupus erythematosus.

OBJECTIVE: To study MHC haplotypes and C4AQ0 in Caucasian multicase systemic lupus erythematosus (SLE) families from Iceland. METHODS: Eight families with 26 SLE patients, 98 non-SLE first-degree relatives, and a control group were studied. For statistical analysis one SLE patient and one first-degree relative were randomly chosen from each family. C4 allotyping was performed by protein electrophoresis, HLA typing of class I by the lymphocytotoxicity test, and typing of class II alleles with polymerase chain reaction with sequence specific primers. RESULTS: Six of the 8 families showed a high background of C4A protein deficiency (C4AQ0) and a significant increase was seen in C4AQ0 in the randomly chosen group of patients. A similar tendency that was statistically nonsignificant was seen in first-degree relatives. In the SLE patients C4AQ0 was found on several MHC haplotypes. Half the patients with C4A protein deficiency carry C4AQ0 on the classical C4A deletion haplotype B8-C4AQ0-C4B1-DR3 or variants of it, and the remaining C4A deficient patients on other non-DR3 carrying haplotypes. The transmission of C4AQ0 from parents to patients was in most cases through the family line, although in some instances it originates from outside the multicase SLE family through spouses married into the family. CONCLUSION: In these Caucasian multicase SLE families from Iceland, C4AQ0 shows weaker linkage disequilibrium with DR3 than reported in studies on other white populations, emphasizing the role of ethnicity. The common factor in the MHC haplotypes studied is C4AQ0, supporting a hypothesis that C4AQ0 may be an independent risk factor for SLE.

Estimation of age-specific breeding probabilities from capture-recapture data.

We provide a new method for estimating the age-specific breeding probabilities from recaptures or resightings of animals marked as young. Our method is more direct than previous methods and allows the modeler to fit and compare models where the age-specific breeding proportions are equal over different cohorts or are a function of external covariates.

Increased number of interleukin-10-producing cells in systemic lupus erythematosus patients and their first-degree relatives and spouses in Icelandic multicase families.

OBJECTIVE: To evaluate the production of interleukin-10 (IL-10) as well as levels of IgG and antinuclear antibodies (ANA) in systemic lupus erythematosus (SLE) patients and their first-degree relatives and spouses in Icelandic SLE multicase families. METHODS: IL-10 production was studied by enzyme-linked immunospot assay of freshly isolated peripheral blood mononuclear cells. Total IgG and ANA were also investigated. Subjects consisted of 23 SLE patients and 47 of their first-degree relatives in 9 Icelandic multicase families. Subjects were ethnically matched by a group of healthy controls. A separate study investigated 12 SLE patients (also from SLE multicase families) and their spouses and a matched group of healthy controls. A predefined protocol was used to obtain both clinical and laboratory data, including information about SLE and other autoimmune disorders. RESULTS: The SLE patients had a significantly higher number of IL-10-producing cells compared with both first-degree relatives and healthy controls (P = 0.0005 and P < 0.0001, respectively). First-degree relatives also had a significantly higher number of IL-10-producing cells compared with healthy controls (P = 0.01). This was also true for the spouses of SLE patients, who had a higher number of IL-10-producing cells compared with matched healthy controls (P = 0.02). CONCLUSION: SLE patients and their first-degree relatives, as well as a limited number of healthy spouses of SLE patients, had increased numbers of spontaneous IL-10-producing cells. These data support the hypothesis that IL-10 production may be genetically determined, and may predispose one toward development of SLE. This has previously been suggested by studies of SLE patients and their relatives in another ethnic population, using another method for measuring IL-10 production. Although these data are based on a small number of observations, they suggest that not only genetic but also environmental factors may be of importance in determining IL-10 production, since the spouses of SLE patients also had an increased number of IL-10-producing cells.

Evidence of Brucella infection in marine mammals in the North Atlantic Ocean.

Between 1983 and 1996 a total of 1386 samples of serum were taken from four species of seal and three species of whale in the waters west of Iceland, the area of pack-ice north-west of Jan Mayen, the northern coast of Norway and the Kola Peninsula, the waters west of Svalbard, and the Barents Sea; they were tested for the presence of anti-Brucella antibodies with an indirect ELISA (protein G conjugate). The positive sera were re-tested with classical brucellosis serological tests, such as the serum agglutination test, the EDTA-modified serum agglutination test, the Rose Bengal test, and the complement fixation test, as well as an anti-complement ELISA. Anti-Brucella antibodies were detected in all the species investigated, except for the bearded seal (Erignathus barbatus), with the following prevalences: hooded seals (Cystophora cristata) 35 per cent; harp seals (Phoca groenlandica) 2 per cent; ringed seals (Phoca hispida) 10 per cent; minke whales (Balaenoptera acutorostrata) 8 per cent; fin whales (Balaenoptera physalus) 11 per cent; and sei whales (Balaenoptera borealis) 14 per cent. An isolate belonging to the genus Brucella was obtained from the liver and spleen of one of the seropositive minke whales. The findings suggest that antibodies against the surface lipopolysaccharide of Brucella species are widely distributed among marine mammals in the North Atlantic Ocean.

A study of the association of HLA DR, DQ, and complement C4 alleles with systemic lupus erythematosus in Iceland.

OBJECTIVE: To perform an exploratory analysis of the relative contribution of single MHC genes to the pathogenesis of systemic lupus erythematosus (SLE) in a homogenous white population. METHODS: MHC class II alleles and C4 allotypes were determined in 64 SLE patients and in ethnically matched controls. HLA-DR and DQ typing was performed by polymerase chain reaction amplification with sequence specific primers. C4 allotypes were determined by agarose gel electrophoresis. RESULTS: The frequency of C4A*Q0 was significantly higher in patients than in controls (46.9% v 25.3%, p = 0.002). HLA-DRB1, DQA1, and DQB1 alleles in the whole group of SLE patients were not significantly different from those of controls. On the other hand increase in DRB1*03 was observed in the group of patients with C4A*Q0, as compared with patients with other C4A allotypes (p = 0.047). There was no significant correlation between severe and mild disease, as judged by the SLEDAI, and HLADR, DQ alleles and comparing the patients with C4A*Q0 with those with other C4A allotypes there was no significant difference regarding clinical manifestations. CONCLUSION: The results are consistent with the argument that C4A deficiency contributes independently to susceptibility and the pathogenesis of SLE. C4A*Q0 in SLE patients in Iceland shows weaker linkage disequilibrium with DR3 genes than reported in most other white populations and emphasises the role of ethnicity.

Soccer injuries in Iceland.

We investigated the frequency, cause and location of injuries in Icelandic elite soccer in 1991. The incidence of injuries for the individual player was 34.8 +/- 5.7 per 1000 game-hours and 5.9 +/- 1.1 per 1000 practice-hours. The most common types of injuries were muscle strains (29%), ligament sprains (22%), contusions (20%), and other injuries (29%). The frequency of reinjury was markedly high, where 44% of the strains and 58% of the sprains were registered as reinjuries. Strains occurred mainly during sprinting, sprains by tackling, and contusion during other contact. Significantly more injuries occurred on artificial turf than on grass or gravel in correlation to number of hours in games and practices. Teams who had the longest pre-season preparation period obtained significantly fewer injuries during the season.

A study of the major histocompatibility complex in a Caucasian family with multiple cases of systemic lupus erythematosus: association with the C4AQ0 phenotype.

OBJECTIVE: In an epidemiological survey of systemic lupus erythematosus (SLE) in Iceland several families with multiple cases were identified. In one family, 35 individuals (family members and spouses) in 3 generations were studied clinically, tested for autoantibody formation, and typed for HLA and toxicity complement phenotypes. METHODS: Typing for HLA-A, B, C, DR, and DQ was performed by microlymphocytotoxic assay. In selected samples HLA-DR typing by polymerase chain reaction amplification with sequence specific primers was performed. C4 allotypes were defined by agarose gel protein electrophoresis followed by immunofixation with goat antisera. RESULTS: Five family members fulfilled 4 or more criteria for SLE. Additionally, 5 family members had clinical manifestations or positive serology but did not fulfill 4 ARA criteria. The mean age at onset of symptoms was 22 yrs (8-40). Other autoimmune diseases were not documented in family members. C4A null seemed to be highly associated with disease in this family. All except one patient with SLE and all those with clinical manifestations and positive serology had C4A null in the homozygous or heterozygous form. The individual with SLE and not carrying C4A null had both HLA haplotypes identical. It is noteworthy that there were 5 different C4A null bearing haplotypes involved, of which 3 originated from the spouses. CONCLUSION: Our results are consistent with the argument that C4A deficiency plays a role in the pathogenesis of SLE. There is, however, the possibility of an unidentified environmental or another genetic factor being involved.

Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred.

The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a significant reduction in the size of the interval containing the mutated gene. A new polymorphism at DXS95, together with DXS1002 and DXS349, defines the proximal boundary of the CPX interval, whereas DXYS1X defines the distal boundary. Multipoint analysis supports this localisation with a peak lod score of 12.7, more than 2 lod score units higher than the next most likely position. In order to assess the physical size of the CPX interval prior to initiating yeast artificial chromosome cloning, metaphase fluorescence in situ hybridisation analysis was performed with the closest flanking markers. The size of the interval between DXS95 and DXYS1X was estimated to be approximately 2-3 Mb.

Isolation of T cell receptor gamma/delta chain constant genes from minke whale.

The polymerase chain reaction using oligonucleotides based on consensus sequences from other species allowed us to amplify minke whale (Balaenoptera acutorostrata) T cell receptor (TcR) gamma and delta constant genes. Two types of Cgamma clones were obtained which only differ by one mismatch. These minke whale Cgamma clones showed 83% nucleotide and 70% amino acid sequence similarity to the corresponding region of the human TRGC genes. The minke whale Cdelta sequences were all identical, and showed 86% nucleotide and 77.8% amino acid sequence similarity to the human TRDC gene. The whale Cgamma and Cdelta clones were used as probes for Southern blot analysis. The data confirmed that there is a unique Cdelta gene in minke whale. Two different Cgamma genes were detected, one of them also cross-hybridizing with a human Cgamma probe, suggesting that the Cgamma locus in minke whale consists of at least two different constant genes.

The association between coeliac disease, dermatitis herpetiformis and certain HLA-antigens in Icelanders.

Twenty-eight cases of coeliac disease (CD) and seven of dermatitis herpetiformis (DH) have been verified in Iceland. Standard serological techniques were used for HLA typing. Twenty-five individuals with CD were typed, 21 (84%) of whom carried DR3,DQ2. Twelve of these 25 (48%) had DR3,DR7, DQ2, which makes them possibly homozygous for DQ2, and suggests that homozygosity of DQ2 increases the risk for CD. The four DH patients that were typed all had HLA-B8,DR3,DQ2. It is concluded that CD and DH are associated with DR3, DQZ in Icelanders.

The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X.

The locus responsible for X-linked, nonsyndromic cleft palate and/or ankyloglossia (CPX) has previously been mapped to the proximal long arm of the human X chromosome between Xq21.31 and q21.33 in an Icelandic kindred. We have extended these studies by analyzing an additional 14 informative markers in the family as well as including several newly investigated family members. Recombination analysis indicates that the CPX locus is more proximal than previously thought, within the interval Xq21.1-q21.31. Two recombinants place DXYS1X as the distal flanking marker, while one recombinant defines DXS326 as the proximal flanking marker, an interval of less than 5 cM. Each of the flanking markers recombines with the CPX locus, giving 2-point lod scores of Zmax = 4.16 at theta = 0.08 (DXS326) and Zmax = 5.80 at theta = 0.06 (DXYS1X).

Sex hormone concentrations in blood serum from the north Atlantic fin whale (Balaenoptera physalus).

Blood serum concentrations of testosterone and progesterone were measured in postmortem samples taken at sea from 814 fin whales (Balaenoptera physalus) caught during the summers (June-September) of 1981-1989. The ages of 781 of these animals were also assessed. The testosterone concentrations in samples from 352 males averaged 2 nmol/l; 41 samples had concentrations of 0.1 nmol/l or lower and 34 of these came from whales aged between 2 and 14 years and showed a Gaussian type of age distribution with a peak number at 7 to 8 years. The mean testosterone concentrations in the males increased by more than fourfold between June and August. Serum progesterone concentrations of the 462 females fell into three separate groups: (1) group I with values < or = 0.1 nmol/l; (2) group II with intermediate values of > 0.1 nmol/l but < 10 nmol/l; (3) group III with values of > or = 10 nmol/l. These three groups of females seemed to consist respectively of young sexually immature females, mature non-pregnant females and pregnant females. The age distribution in the groups indicated that puberty in females is attained chiefly between the ages of 7 and 10. The yearly pregnancy rate (that percentage of all females caught and studied in a year which had progesterone values > or = 10 nmol/l) was between 35% and 55%, except in 1987 when it was 67%. The yearly pregnancy rate would range from 56% to 93% if only mature females (i.e. those with serum progesterone > 0.1 nmol/l) were considered.(ABSTRACT TRUNCATED AT 250 WORDS)

Genetic variation at enzyme loci in North Atlantic minke whales, Balaenoptera acutorostrata.

Electrophoretic variation within and between North Atlantic minke whale samples (Balaenoptera acutorostrata) from West Greenland, Iceland, and Norway was investigated. In the West Greenland samples, 28 enzyme systems were examined, representing 36 loci, of which 6 were found to be polymorphic. In Icelandic and Norwegian samples, 22 enzyme systems were examined, representing 29 loci, of which 6 and 5 were found to be polymorphic, respectively. The average heterozygosity was 0.058 (SE = 0.024) in samples from West Greenland, 0.074 (SE = 0.028) in samples from Iceland, and 0.054 (SE = 0.023) in samples from Norway. No significant deviations from the expected Hardy-Weinberg genotypic frequencies, within samples taken from the same area, were found. Significant differences in allele frequencies were observed, however, between samples from the three different areas. The average Nei's genetic distance was 0.014 and the average Fst value was 0.126. The genetic differences between the samples from the different areas indicate that those from West Greenland, Iceland, and Norway represented different breeding populations.