Decision-Making Time and Neuromuscular Coordination in Youth and Senior Soccer Goalkeepers.

The aim of this study was to compare soccer goalkeepers' decision-making times following a shot on goal and to determine goalkeepers' movement pattern structures using EMG in a typical game situation (two-on-one). Two groups of goalkeepers (n = 60) took part in the study: Group A, the senior group (22.00 ± 2.35 years of age), and Group B, the youth group (15.38 ± 1.32 years of age). The goalkeepers' decision-making times were measured by using EMG from the moment the attacker struck the ball until the completion of the saving action by the goalkeeper. Subsequently, the goalkeepers' movement pattern structure was determined (for both Groups A and B), and the values of muscle bioelectrical tension during a typical defensive situation in training conditions were revealed. The findings clearly indicate a significantly (p = 0.001) shorter decision-making time in experienced goalkeepers (250-260 ms) than in novices (300-320 ms). In addition, the movement pattern structure confirmed the hypotheses on the economization of effort and the visual-muscular coordination of the postural muscles (calf muscles) that affect soccer goalkeepers. The study also demonstrated a lower bioelectric tension of the gastrocnemius muscle (GAS.MED. RT-p = 0.008; GAS.LAT. RT-p = 0.030) in the expert goalkeepers.

Excessive Facial Wrinkling Is Associated with COPD Occurrence-Does COPD Damage Skin Beauty and Quality?

The aim of this study was to investigate facial wrinkling in COPD patients, its relationship with lung function parameters, and the differences in wrinkling between COPD patients and smokers without COPD. The study included 56 patients with COPD with smoking history and 84 controls. Wrinkle intensity was measured and classified using Daniell's grading system, and the total length of wrinkles was also estimated. The predominant grades of Daniell's scale were IV-V for COPD patients (89.3% of current and 75.0% of former smokers), III-V for controls who currently smoke (89.2%), and II-III for former (92.9%) and never smokers (100%) controls. These distributions were statistically significantly different, but current and former smokers with COPD and COPD former smokers and control current smokers did not differ. In terms of the total length of wrinkles, the COPD patients possessed significantly longer wrinkles than the control subgroups (all p-values were <0.004). Negative correlations between wrinkle length and lung parameters were found. This phenomenon seems to be independent of smoking, but the length of wrinkles is related to lung function parameters. It seems that not only smoking but also COPD damages skin beauty and quality.

Clinical Factors and the Outcome of Treatment with Methotrexate in Rheumatoid Arthritis: Role of Rheumatoid Factor, Erosive Disease and High Level of Erythrocyte Sedimentation Rate.

To identify the clinical factors predicting the outcome of treatment with methotrexate in rheumatoid arthritis, we examined 312 patients (253 females, 59 males) with rheumatoid arthritis diagnosed according to the criteria of the American College of Rheumatology. All patients included in this analysis began treatment with a regimen of oral MTX 7.5 mg weekly, with the dosage increasing to 15 mg weekly after 4 weeks, in combination with folic acid (1 mg daily). Good responders were defined as patients who had a DAS28 of ≤2.4 at 6 months (patients with remission of disease symptoms). Poor responders were defined as patients who had a DAS28 of >2.4. In this study, we analyzed the association between clinical parameters such as sex of patients, age of patients, age at disease onset, disease duration, rheumatoid factor, anti-CCP antibodies, ESR values, presence of joints erosions, presence of extra-articular manifestations and the response to MTX in RA patients. Multivariate logistic regression analysis showed four independent factors significantly associated with good response to MTX treatment: older age at disease onset, low ESR, no erosive disease and negative RF. The results of our study suggest that a younger age at disease onset, the presence of RF, erosive disease, as well as a high level of ESR are associated with worse response to MTX therapy.

HIF-1α and NFIA-AS2 Polymorphisms as Potential Determinants of Total Hemoglobin Mass in Endurance Athletes.

ABSTRACT: Malczewska-Lenczowska, J, Orysiak, J, Majorczyk, E, Sitkowski, D, Starczewski, M, and Zmijewski, P. HIF-1α and NFIA-AS2 polymorphisms as potential determinants of total hemoglobin mass in endurance athletes. J Strength Cond Res 36(6): 1596-1604, 2022-The aims of this study were to examine (1) the genotype distribution of rs11549465:C>T of the HIF-1α gene and rs1572312:C>A of the NFIA-AS2 gene; (2) the association between the genes and hematological status in endurance-oriented athletes; and (3) the association between the NFIA-AS2 gene and aerobic capacity in cyclists. Two hundred thirty-eight well-trained athletes (female n = 90, male n = 148) participated in the study. Total hemoglobin mass (tHbmass), blood morphology, intravascular volumes, i.e., erythrocyte volume (EV), blood volume (BV) and plasma volume (PV), and aerobic capacity indices, e.g., peak oxygen uptake (V̇o2peak), and power at anaerobic threshold (PAT) were determined. In both studied genes, the CC genotype was predominant. In the HIF-1α gene, there were no differences in genotype and allele distribution among athletes from different disciplines and between sexes. The distribution of genotypes and alleles of the NFIA-AS2 gene differed significantly in male athletes; the frequency of A allele carriers (CA + AA) was significantly higher in cyclists than in rowers and middle- and long-distance runners. The athletes with CC genotype of NF1A-AS2 had significantly higher relative values of: tHbmass (total female athletes, cyclists), PV, BV (cyclists), and EV (total male athletes, cyclists) and PAT (cyclists) than A allele carriers (CA + AA genotypes). In conclusion, our study indicates that NFIA-AS2 rs1572312:C>A polymorphism was associated with hematological status in endurance athletes, as well as aerobic capacity indices in male cyclists. It suggests that this polymorphism may be a determinant of quantity of hemoglobin and intrtavascular volumes, which in turn can have an impact on aerobic performance.

Two Paralogous Gb3/CD77 Synthases in Birds Show Different Preferences for Their Glycoprotein and Glycosphingolipid Substrates.

Most glycosyltransferases show remarkable gross and fine substrate specificity, which is reflected in the old one enzyme-one linkage paradigm. While human Gb3/CD77 synthase is a glycosyltransferase that synthesizes the Galα1→4Gal moiety mainly on glycosphingolipids, its pigeon homolog prefers glycoproteins as acceptors. In this study, we characterized two Gb3/CD77 synthase paralogs found in pigeons (Columba livia). We evaluated their specificities in transfected human teratocarcinoma 2102Ep cells by flow cytofluorometry, Western blotting, high-performance thin-layer chromatography, mass spectrometry and metabolic labelling with 14C-galactose. We found that the previously described pigeon Gb3/CD77 synthase (called P) can use predominately glycoproteins as acceptors, while its paralog (called M), which we serendipitously discovered while conducting this study, efficiently synthesizes Galα1→4Gal caps on both glycoproteins and glycosphingolipids. These two paralogs may underlie the difference in expression profiles of Galα1→4Gal-terminated glycoconjugates between neoavians and mammals.

Post-COVID-19 rehabilitation - a Polish pilot program.

The current spread of SARS-CoV-2 indicates a long-term fight against the widespread and exponential increase in morbidity and mortality across the globe. A variety of non-pharmacological strategies to mitigate and suppress virus transmission have been investigated and introduced. Currently, emerging studies focus mostly on the management of hospital-treated patients in the acute phase of the disease, including the legitimacy of using physiotherapeutic procedures. However, current literature lacks guidelines for rehabilitation related to maintaining continuity and universality of the therapy after the end of the acute phase of the disease and discharge from hospital. The authors suggest implementing an immediate rehabilitation program in post-infection patients as data from previous epidemics of respiratory-related viral diseases shows that COVID-19 survivors should be expected to have impaired lung ventilation function, and reduced exercise tolerance and muscular weakness, and prolonged return to work and participation. It should be assumed that only the introduction of immediate recommendations for the implementation of rehabilitation procedures based on simple and well-known tests, as well as their obligatory regime, can contribute to the reduction of respiratory disability leading, in a short time, to infections recurrence and, in the long run, to a lower quality of life and socioeconomic burden on the population. This article presents a respiratory rehabilitation program for COVID-19 survivors, recommended by the Polish Society of Physiotherapy. This program was approved by the Polish Minister of Health and implemented as a pilot program at the Hospital of the Ministry of the Interior and Administration in Glucholazy, Poland. Med Pr. 2021;72(5):611-6.

Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable.

N-glycosylation is a ubiquitous posttranslational modification that may influence folding, subcellular localization, secretion, solubility and oligomerization of proteins. In this study, we examined the effects of N-glycans on the activity of human Gb3/CD77 synthase, which catalyzes the synthesis of glycosphingolipids with terminal Galα1→4Gal (Gb3 and the P1 antigen) and Galα1→4GalNAc disaccharides (the NOR antigen). The human Gb3/CD77 synthase contains two occupied N-glycosylation sites at positions N121 and N203. Intriguingly, we found that while the N-glycan at N203 is essential for activity and correct subcellular localization, the N-glycan at N121 is dispensable and its absence did not reduce, but, surprisingly, even increased the activity of the enzyme. The fully N-glycosylated human Gb3/CD77 synthase and its glycoform missing the N121 glycan correctly localized in the Golgi, whereas a glycoform without the N203 site partially mislocalized in the endoplasmic reticulum. A double mutein missing both N-glycans was inactive and accumulated in the endoplasmic reticulum. Our results suggest that the decreased specific activity of human Gb3/CD77 synthase glycovariants resulted from their improper subcellular localization and, to a smaller degree, a decrease in enzyme solubility. Taken together, our findings show that the two N-glycans of human Gb3/CD77 synthase have opposing effects on its properties, revealing a dual nature of N-glycosylation and potentially a novel regulatory mechanism controlling the biological activity of proteins.

Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry.

The human Gb3/CD77 synthase, encoded by the A4GALT gene, is an unusually promiscuous glycosyltransferase. It synthesizes the Galα1→4Gal linkage on two different glycosphingolipids (GSLs), producing globotriaosylceramide (Gb3, CD77, Pk) and the P1 antigen. Gb3 is the major receptor for Shiga toxins (Stxs) produced by enterohemorrhagic Escherichia coli. A single amino acid substitution (p.Q211E) ramps up the enzyme's promiscuity, rendering it able to attach Gal both to another Gal residue and to GalNAc, giving rise to NOR1 and NOR2 GSLs. Human Gb3/CD77 synthase was long believed to transfer Gal only to GSL acceptors, therefore its GSL products were, by default, considered the only human Stx receptors. Here, using soluble, recombinant human Gb3/CD77 synthase and p.Q211E mutein, we demonstrate that both enzymes can synthesize the P1 glycotope (terminal Galα1→4Galß1→4GlcNAc-R) on a complex type N-glycan and a synthetic N-glycoprotein (saposin D). Moreover, by transfection of CHO-Lec2 cells with vectors encoding human Gb3/CD77 synthase and its p.Q211E mutein, we demonstrate that both enzymes produce P1 glycotopes on N-glycoproteins, with the mutein exhibiting elevated activity. These P1-terminated N-glycoproteins are recognized by Stx1 but not Stx2 B subunits. Finally, cytotoxicity assays show that Stx1 can use P1 N-glycoproteins produced in CHO-Lec2 cells as functional receptors. We conclude that Stx1 can recognize and use P1 N-glycoproteins in addition to its canonical GSL receptors to enter and kill the cells, while Stx2 can use GSLs only. Collectively, these results may have important implications for our understanding of the Shiga toxin pathology.

The effect of LILRB1 but not LILRA3 gene polymorphism in immunopathology of ankylosing spondylitis-A parallel to KIR genes.

LILR and KIR receptors recognize HLA-B27 and may influence immune response in ankylosing spondylitis (AS) development. Purpose of the study was to analyse LILRB1/LILRA3 polymorphisms in AS. We observed a possible protective effect of the T allele of LILRB1 rs1061680:T>C and no association with insertion/deletion polymorphisms of LILRA3 with AS.

ERAP1-ERAP2 haplotypes are associated with ankylosing spondylitis in Polish patients.

The objective of this case-control study was to evaluate the role of four single-nucleotide polymorphisms in the ERAP1 (rs2287987, rs30187, rs27044) and ERAP2 (rs2248374) genes and their haplotypes in predicting the risk for ankylosing spondylitis (AS) on a well-defined Polish population. Our study confirmed the strong association between the HLA-B*27 allele and the disease. For all tested ERAP1 SNPs we found significant differences in the minor allele and genotype distribution between patients and controls. The strongest association with AS was observed for rs30187. The minor T allele and homozygous TT genotype of this SNP significantly increased disease risk (OR = 1.56, 95%CI = 1.22-1.99, p = 0.0004 and OR = 2.52, 95%CI = 1.50-4.25, p = 0.001, respectively). In the case of rs2287987, minor C allele exerted a protective effect (OR = 0.64, 95%CI = 0.46-0.88, p = 0.008). In contrast to ERAP1, we observed no effect of rs2248374 in ERAP2 on the disease. We also carried out ERAP1-ERAP2 haplotype analysis to demonstrate a possible association of both genes with AS. Results showed that the haplotype H4, containing ERAP1 SNPs associated with high enzymatic activity, together with the presence of ERAP2 expression, significantly increased the risk of AS (OR = 1.97, 95% CI = 1.21-3.21, pcorr = 0.048). By contrast, the haplotype H5 coding for low activity of ERAP1 and the lack of ERAP2 expression was strongly protective (OR = 0.41, 95% CI = 0.23-0.72, pcorr = 0.008).

The role of MMP-12 gene polymorphism - 82 A-to-G (rs2276109) in immunopathology of COPD in polish patients: a case control study.

BACKGROUND: Major symptoms of chronic obstructive pulmonary disease (COPD) are chronic bronchitis and emphysema leading from lung tissue destruction, that is an effect of an imbalance between metalloproteinases (MMPs) and their tissue inhibitors activity. As potential factor involved in this COPD pathogenesis, MMP-12 is considered. We investigated the role of genetic polymorphism and protein level of MMP-12 in the COPD development among Poles. METHODS: We analyzed - 82 A > G SNP in the promoter region of MMP-12 gene (rs2276109) among 335 smoked COPD patients and 309 healthy individuals, including 110 smokers. Additionally, 60 COPD patients and 61 controls (23 smokers) were tested for serum levels of MMP-12 using ELISA. All subjects were analyzed for lung function using spirometry (FEV1% and FEV1/FVC parameters). RESULTS: We observed that -82G allele and -82GG homozygous genotype frequencies of the SNP rs2276109 were significantly lower in COPD patients than in controls (12.5% vs 16.9%, respectively; χ2 = 4.742, p = 0.02 for allele and 0.5% vs 3.9%, respectively; χ2 = 9.0331, p = 0.01 for genotype). Moreover, -82G allele was more frequent in controls smokers than in non-smokers (22.3% vs 14.1%, χ2 = 6.7588, p = 0.01). Serum level of MMP-12 was significantly higher in COPD patients than in controls groups (6.8 ng/ml vs 3.3 ng/ml, respectively; F = 7.433, p < 0.0001), although independently of analyzed gene polymorphisms. Additionally, no correlation between parameters of lung function (FEV1% and FEV1/FVC) and protein level was found. CONCLUSIONS: We found that -82G allele of SNP rs2276109 was associated with reduced risk of COPD, and COPD patients released more MMP-12 than healthy individuals, but independently on this SNP.

Gait and functional status analysis before and after total knee arthroplasty.

BACKGROUND: Among the procedures for severe gonarthrosis, total knee arthroplasty (TKA) is considered a successful method patient satisfaction and functional improvement; however, TKA is commonly associated with incompletely recovered gait function. The aim of this study was to evaluate the influence of TKA and physiotherapy programmes on gait features and patient-reported functional status and the relationship between them, leading to broader knowledge of the origins of long-term gait disturbances. METHODS: Walking speed, step length and single support time were analysed by GAITRite system in 60 healthy controls and 21 TKA patients analysed at four time points: one day before and five days after surgery and before and after a three-week rehabilitation (12 and 15 weeks after surgery). Functional status was assessed using the Western Ontario and McMaster Osteoarthritis Index (WOMAC). RESULTS: At all time points, the TKA subjects walked significantly slower than the controls, but walking speed continuously increased after surgery. Gait asymmetries were observed in single support time (before surgery) and step length (after surgery). Partial restoration of gait function was observed 12 weeks after surgery and completion of the rehabilitation programme. An indirect correlation between gait velocity and function WOMAC subscores was found. CONCLUSIONS: Patients after TKA were characterised by significant improvements in self-reported functionality and progressive reduction of gait abnormalities, probably related to pain reduction. However, at 15 weeks after surgery, patients exhibited step length asymmetry, which could be considered as an effect of habits of three-point crutch gait in the early postoperative period.

Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system.

Contrary to the mainstream blood group systems, P1PK continues to puzzle and generate controversies over its molecular background. The P1PK system comprises three glycosphingolipid antigens: Pk, P1 and NOR, all synthesised by a glycosyltransferase called Gb3/CD77 synthase. The Pk antigen is present in most individuals, whereas P1 frequency is lesser and varies regionally, thus underlying two common phenotypes: P1, if the P1 antigen is present, and P2, when P1 is absent. Null and NOR phenotypes are extremely rare. To date, several single nucleotide polymorphisms (SNPs) have been proposed to predict the P1/P2 status, but it has not been clear how important they are in general and in relation to each other, nor has it been clear how synthesis of NOR affects the P1 phenotype. Here, we quantitatively analysed the phenotypes and A4GALT transcription in relation to the previously proposed SNPs in a sample of 109 individuals, and addressed potential P1 antigen level confounders, most notably the red cell membrane cholesterol content. While all the SNPs were associated with the P1/P2 blood type and rs5751348 was the most reliable, we found large differences in P1 level within groups defined by their genotype and substantial intercohort overlaps, which shows that the P1PK blood group system still eludes full understanding.

Impact of Matrix Metalloproteinase 9 on COPD Development in Polish Patients: Genetic Polymorphism, Protein Level, and Their Relationship with Lung Function.

Chronic obstructive pulmonary disease (COPD) is characterized by a decline of lung function and symptoms such as chronic bronchitis and emphysema leading from lung tissue destruction. Increased activity of matrix metalloproteinases (MMPs) and an imbalance between MMPs and their tissue inhibitors (TIMPs) are considered as factors influencing the pathogenesis of COPD. We investigated the role of genetic polymorphism and expression level of MMP-9 and concentration of its complexes with TIMPs in the development of COPD among Polish patients. We analyzed SNP in the promoter region of MMP-9 gene (rs3918242) using PCR-RFLP method among 335 COPD patients and 309 healthy individuals. Additionally, 60 COPD patients and 61 controls were tested for copy number variants (CNV) of MMP-9 (by quantitative real-time PCR) and serum levels of MMP-9 and its complexes with TIMP1 and TIMP2 (using ELISA). All subjects were analyzed for lung function using spirometry (FEV1% and FEV1/FVC parameters). We observed that allele and genotype frequencies of the SNP rs3918242, as well as the number of gene copies, were similar in COPD patient and controls groups. Serum levels of MMP-9 and MMP-9/TIMP1 complex were significantly higher in COPD patients in comparison to controls groups, although independently of analyzed gene polymorphisms. Additionally, the significant inverse relationships between parameters of lung function (FEV1% and FEV1/FVC) and proteins level were found in ridge regression models, especially we found that FEV1% decreased when MMP-9 level increased in controls and patients with COPD group. In conclusion, we found that COPD patients were predisposed to produce more MMP-9 and MMP-9/TIMP1 complex than healthy individuals. This phenomenon is probably associated with the disease-related lung environment but not with genetic features of the MMP-9.

Role of thiamine in Huntington's disease pathogenesis: In vitro studies.

BACKGROUND: Oxidative stress accompanies neurodegeneration and also causes abnormalities in thiaminedependent processes. These processes have been reported to be diminished in the brains of patients with several neurodegenerative diseases. OBJECTIVES: The aim of this work was to conduct a comparative analysis of the impact of supplemented thiamine on the viability of human B lymphocytes with CAG abnormal expanded huntingtin gene (mHTT) (GM13509) and control, B lymphocytes without mHTT (GM14467) through the following studies: determination of the supplemented thiamine concentrations, which are effective for cell growth stimulation after incubation in thiamine deficit conditions; determination of cell capability to intake the exogenous thiamine; evaluation of exogenous thiamine influence on the profile of the genes related to thiamine and energy metabolism; determination of ATP synthesis and activities of thiamine-dependent enzymes, KGDHC and BCKDHC in the intact cells and upon the exogenous thiamine. MATERIAL AND METHODS: The following methods were used: EZ4U test for cell growth analysis; HPLC for determination of thiamine intake and ATP synthesis, qRT-PCR for evaluation of the gene profiles and spectrophotometric method for KGDHC and BCKDHC activities determination. RESULTS: Maximal cell growth stimulation was observed at 2.5 mM in GM14467 up to 135% of the control culture and at 5.0 mM in GM13509 cells up to 165% of the control culture. Native levels of total ATP and KGDHC and BCKDHC activities in both cell types were comparable and did not changed upon thiamine deficit or supplementation. GM13509 cells showed more of an increase in growth stimulation upon thiamine supplementation than GM14467 cells and this effect was reflected in the increase of intracellular thiamine concentration. CONCLUSIONS: The above results and reported changes in expression of GAPDH, IDH1 and SLC19A3 genes observed upon thiamine deficit conditions suggest that intracellular thiamine status and energy metabolism can have a role in HD pathogenesis.

The influence of KIR gene presence/absence polymorphisms on the development of periodontal disease in smokers and non-smokers.

INTRODUCTION: Periodontal diseases are highly prevalent inflammatory, multifactorial diseases. Smoking is one of the most important environmental risk factors for the development and severity of periodontal disease. Killer cell immunoglobulin-like receptors (KIRs) are members of the immunoglobulin (Ig) superfamily and play an essential role in the regulation of NK cell activity, allowing natural killer (NK) cells to sense and respond to human leukocyte antigen (HLA) class I. The aim of this study was to evaluate the influence of KIR gene presence/absence polymorphisms on the development of periodontal disease in smokers and non-smokers. MATERIAL AND METHODS: This study enrolled 400 Caucasian subjects (age range 25-69 years) from the West Pomeranian region of Poland. The subjects were categorized into four subgroups (smoking and non-smoking patients with periodontal disease; smoking and non-smoking subjects without periodontal disease - control subjects). RESULTS: The differences of KIR gene frequencies between non-smoking patients and non-smoking control subjects as well as smoking patients and control subjects were not statistically significant. In multivariate regression analysis advanced age of patients and smoking were independent factors associated with increased frequency of periodontal disease. CONCLUSIONS: The results of this study suggest that the main factor associated with increased risk of periodontal disease is smoking, whereas KIR presence/absence polymorphism is not a significant factor involved in the pathogenesis of periodontal disease.

Assessment of Relationships Between Joint Motion Quality and Postural Control in Patients With Chronic Ankle Joint Instability.

Study Design Controlled laboratory study, cross-sectional. Background Lateral ankle sprains are among the most common injuries encountered during athletic participation. Following the initial injury, there is an alarmingly high risk of reinjury and development of chronic ankle instability (CAI), which is dependent on a combination of factors, including sensorimotor deficits and changes in the biomechanical environment of the ankle joint. Objective To evaluate CAI-related disturbances in arthrokinematic motion quality and postural control and the relationships between them. Methods Sixty-three male subjects (31 with CAI and 32 healthy controls) were enrolled in the study. For arthrokinematic motion quality analysis, the vibroarthrographic signals were collected during ankle flexion/extension motion using an acceleration sensor and described by variability (variance of mean squares [VMS]), amplitude (mean of 4 maximal and 4 minimal values [R4]), and frequency (vibroarthrographic signal bands of 50 to 250 Hz [P1] and 250 to 450 Hz [P2]) parameters. Using the Biodex Balance System, single-leg dynamic balance was measured by overall, anteroposterior, and mediolateral stability indices. Results Values of vibroarthrographic parameters (VMS, R4, P1 and P2) were significantly higher in the CAI group than those in the control group (P<.01). Similar results were obtained for all postural control parameters (overall, anteroposterior, and mediolateral stability indices; P<.05). Moreover, correlations between the overall stability index and VMS, and P1 and P2, as well as between the anteroposterior stability index and P1 and P2, were observed in the CAI patient group, but not in controls. Conclusion In patients with CAI, deficits in both quality of ankle arthrokinematic motion and postural control were present. Therefore, physical therapy interventions focused on improving ankle neuromuscular control and arthrokinematic function are necessary in CAI patient care. J Orthop Sports Phys Ther 2017;47(8):570-577. Epub 4 Nov 2016. doi:10.2519/jospt.2017.6836.

Evaluation of an amino acid residue critical for the specificity and activity of human Gb3/CD77 synthase.

Human Gb3/CD77 synthase (α1,4-galactosyltransferase) is the only known glycosyltransferase that changes acceptor specificity because of a point mutation. The enzyme, encoded by A4GALT locus, is responsible for biosynthesis of Gal(α1-4)Gal moiety in Gb3 (CD77, Pk antigen) and P1 glycosphingolipids. We showed before that a single nucleotide substitution c.631C > G in the open reading frame of A4GALT, resulting in replacement of glutamine with glutamic acid at position 211 (substitution p. Q211E), broadens the enzyme acceptor specificity, so it can not only attach galactose to another galactose but also to N-acetylgalactosamine. The latter reaction leads to synthesis of NOR antigens, which are glycosphingolipids with terminal Gal(α1-4)GalNAc sequence, never before described in mammals. Because of the apparent importance of position 211 for enzyme activity, we stably transfected the 2102Ep cells with vectors encoding Gb3/CD77 synthase with glutamine substituted by aspartic acid or asparagine, and evaluated the cells by quantitative flow cytometry, high-performance thin-layer chromatography and real-time PCR. We found that cells transfected with vectors encoding Gb3/CD77 synthase with substitutions p. Q211D or p. Q211N did not express Pk, P1 and NOR antigens, suggesting complete loss of enzymatic activity. Thus, amino acid residue at position 211 of Gb3/CD77 synthase is critical for specificity and activity of the enzyme involved in formation of Pk, P1 and NOR antigens. Altogether, this approach affords a new insight into the mechanism of action of the human Gb3/CD77 synthase.

Joint Motion Quality in Chondromalacia Progression Assessed by Vibroacoustic Signal Analysis.

BACKGROUND: Because of the specific biomechanical environment of the patellofemoral joint, chondral disorders, including chondromalacia, often are observed in this articulation. Chondromalacia via pathologic changes in cartilage may lead to qualitative impairment of knee joint motion. OBJECTIVE: To determine the patellofemoral joint motion quality in particular chondromalacia stages and to compare with controls. DESIGN: Retrospective, comparative study. SETTING: Voivodship hospitals, university biomechanical laboratory. PATIENTS: A total of 89 knees with chondromalacia (25 with stage I; 30 with stage II and 34 with stage III) from 50 patients and 64 control healthy knees (from 32 individuals). METHODS: Vibroacoustic signal pattern analysis of joint motion quality. MAIN OUTCOME MEASUREMENTS: For all knees vibroacoustic signals were recorded. Each obtained signal was described by variation of mean square, mean range (R4), and power spectral density for frequency of 50-250 Hz (P1) and 250-450 Hz (P2) parameters. RESULTS: Differences between healthy controls and all chondromalacic knees as well as chondromalacia patellae groups were observed as an increase of analyzed parameters (P < .001) with only one exception. No statistically significant difference between control group and stage I of chondromalacia patellae was found. All chondromalacia groups were differentiated by the use of all analyzed parameters (P < .01), whose values correspond to the progress of chondromalacia. CONCLUSIONS: Chondromalacia generates abnormal vibroacoustic signals, and there seems to be a relationship between the level of signal amplitude as well as frequency and cartilage destruction from the superficial layer to the subchondral bone. LEVEL OF EVIDENCE: IV.

Total Hemoglobin Mass, Aerobic Capacity, and HBB Gene in Polish Road Cyclists.

Malczewska-Lenczowska, J, Orysiak, J, Majorczyk, E, Zdanowicz, R, Szczepanska, B, Starczewski, M, Kaczmarski, J, Dybek, T, Pokrywka, A, Ahmetov, II, and Sitkowski, D. Total hemoglobin mass, aerobic capacity, and the HBB gene in polish road cyclists. J Strength Cond Res 30(12): 3512-3519, 2016-The relationship between genes, amount of hemoglobin, and physical performance are still not clearly defined. The aim of this study was to examine the association between-551C/T and intron 2, +16 C/G polymorphisms in the beta hemoglobin (HBB) gene and total hemoglobin mass (tHbmass) and aerobic capacity in endurance athletes. Total hemoglobin mass and aerobic capacity indices, i.e.,V[Combining Dot Above]O2max, oxygen uptake at anaerobic threshold (V[Combining Dot Above]O2AT), maximal power output (Pmax), and power at anaerobic threshold (PAT) were determined in 89 young road cyclists, female (n = 39) and male (n = 50), who were genotyped for 2 polymorphisms in the HBB gene. The relative values of aerobic capacity indices differed significantly among intron 2, +16 C/G polymorphisms of the HBB gene only in female cyclists; athletes with GG genotype had significantly higher values of V[Combining Dot Above]O2max (p = 0.003), V[Combining Dot Above]O2AT (p = 0.007), PAT (p = 0.015), and Pmax (p = 0.004) than C carriers. No relationships were found between the C-carrier model (CC + CG vs. GG in the case of intron 2, +16 C/G and CC + CT vs. TT for -551 C/T polymorphisms of the HBB gene) and relative values of tHbmass. Our results demonstrated that the HBB gene could be related to aerobic capacity, but it seems that it does not result from an increase in the amount of hemoglobin in the blood.