Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping.

Background: Laboratory testing in suspected alpha-1-antitrypsin (A1AT) deficiency involves analysis of A1AT concentrations and identification of specific alleles by genotyping or phenotyping. The purpose of this study was to define and evaluate a strategy that provides reliable laboratory evaluation of A1AT deficiency.

Methods: Samples from 512 individuals referred for A1AT phenotype analysis were analyzed by quantification, phenotype, and genotype.

Metabolism and performance in repeated cycle sprints: active versus passive recovery.

Purpose: To compare active versus passive recovery on performance and metabolism during a test of repeated-sprint ability.

Methods: Nine males performed four repeated-sprint cycle tests (six 4-s sprints, every 25 s) in a randomized, counterbalanced order: two tests with active recovery (approximately 32% VO2max) and two with passive recovery. Muscle biopsies were taken during the four tests from the vastus lateralis pretest, immediately posttest, and following 21 s of recovery to determine phosphocreatine ([PCr]), creatine, and muscle lactate concentration ([MLa]).

Iron supplementation: oral tablets versus intramuscular injection.

Non-anemic, iron depleted women were randomly assigned to an injection group (IG) or oral group (OG) to assess which method is more efficient for increasing iron stores over a short time period. IG received a course of 5 x 2 mL intramuscular injections over 10 d, and OG received one tablet daily for 30 d. Fourteen, 21 and 28 d after commencing supplementation, ferritin concentration in OG significantly increased from baseline (means +/- standard error: 27 +/- 3 to 40 +/- 5 to 41 +/- 5 to 41 +/- 5 microg/L; P < 0.

The yo-yo test: reliability and association with a 20-m shuttle run and VO(2max).

Purpose: The purpose of the study was to determine the reliability of yo-yo intermittent recovery test (yo-yo) scores and their degree of association with a 20-m shuttle run (20MSR) and VO(2max) values.

Methods: Subjects were elite (Australian Football League [AFL], n = 23), state-level (hockey, n = 15, and cricket, n = 27), and recreational team-sport players (n = 33). All performed a 20MSR and the yo-yo at either level 1 (recreational and state level) or level 2 (AFL).

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.

Wilson disease is an autosomal recessive disorder of copper transport, caused by the reduced or absent function of the Wilson disease gene ATP7B on chromosome 13. The disease is characterized by reduced incorporation of copper into the ceruloplasmin protein and reduced excretion of copper into the bile. Wilson disease is effectively treated if detected early.

Effects of caffeine on prolonged intermittent-sprint ability in team-sport athletes.

Purpose: Caffeine can be a powerful ergogenic aid for the performance of prolonged, submaximal exercise. Little evidence, however, supports an ergogenic effect of caffeine on intermittent-sprint performance. Hence, this study was conducted to examine the effects of acute caffeine ingestion on prolonged intermittent-sprint performance.

In vitro enzymatic oxidation of a fluorine-tagged sulfido substrate analogue: a 19F NMR investigation.

1H-decoupled 19F NMR has been used to monitor the highly regioselective oxidation of a fluorine-tagged thia-fatty acid derivative by castor stearoyl-ACP delta9 desaturase. The major enzymatic product, after reductive work-up, was identified as 9-fluoro-1-nonanol. This compound could be easily distinguished from substrate and a 9-sulfoxy by-product on the basis of its 19F NMR chemical shift and spiking experiments using authentic standards.

Plasma glutamine responses to high-intensity exercise before and after endurance training.

Glutamine responses to strenuous interval exercise were examined before and after 6 weeks of endurance training. Glutamine measures were obtained before and after the interval exercise sessions and training in untrained males assigned to training (T; n = 10) or control (C; n = 10) groups. Before training, C and T group glutamine progressively decreased (p < 0.

Plasma glutamine changes after high-intensity exercise in elite male swimmers.

The aim of this study was to establish the pattern and time course of plasma glutamine recovery after acute, high-intensity exercise in well-trained swimmers. In Study 1, elite male swimmers (n=8) performed 15 x 100 m swimming intervals (ITS) at 70% and 95% of maximal 100m freestyle time. Resting plasma glutaminle levels were determined on a nonexercise control day (0% ITS).

Physiological and metabolic responses of repeated-sprint activities:specific to field-based team sports.

Field-based team sports, such as soccer, rugby and hockey are popular worldwide. There have been many studies that have investigated the physiology of these sports, especially soccer. However, some fitness components of these field-based team sports are poorly understood.

Effects of high- and moderate-intensity training on metabolism and repeated sprints.

Purpose: We compared the effects of high-intensity interval (HIT) and moderate-intensity continuous (MIT) training (matched for total work) on changes in repeated-sprint ability (RSA) and muscle metabolism.

Methods: Pre- and posttraining, VO(2peak), lactate threshold (LT), and RSA (5 x 6-s sprints, every 30 s) were assessed in 20 females. Before and immediately after the RSA test, muscle biopsies were taken from the vastus lateralis.

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Cartilage-hair hypoplasia (CHH), also known as metaphyseal chondrodysplasia McKusick type (OMIM no. 250250), is an autosomal recessive, multi-systemic disease characterized by disproportionate short stature, fine and sparse hair, deficient cellular immunity and a predisposition to malignancy. It is caused by mutations in RMRP, the RNA component of the ribonucleoprotein complex RNase MRP, and, thus, CHH represents one of few Mendelian disorders caused by mutations in a nuclear encoded, non-coding RNA.

Quantitation of hydroxylated byproduct formation in a Saccharomyces cerevisiae Delta9 desaturating system.

The distribution of products obtained from stearoyl CoA Delta9 desaturase-mediated oxidation in Saccharomyces cerevisiae has been measured directly for the first time using an omega-fluorinated fatty acid substrate.

Comparison of muscle buffer capacity and repeated-sprint ability of untrained, endurance-trained and team-sport athletes.

We measured the muscle buffer capacity (betam) and repeated-sprint ability (RSA) of young females, who were either team-sport athletes (n = 7), endurance trained (n = 6) or untrained but physically active (n = 8). All subjects performed a graded exercise test to determine VO(2peak) followed 2 days later by a cycle test of RSA (5 x 6 s, every 30 s). Resting muscle samples (Vastus lateralis) were taken to determine betam.

Energy system contribution to 1500- and 3000-metre track running.

The aim of the present study was to quantify the contributions of the aerobic and anaerobic energy systems to 1500- and 3000-m track running events during all-out time-trials performed individually on a synthetic athletic track. Ten 3000-m (8 males, 2 females) and fourteen 1500-m (10 males, 4 females) trained track athletes volunteered to participate in the study. The athletes performed a graded exercise test in the laboratory and two time-trials over 1500 or 3000 m.

Energy system contribution to 400-metre and 800-metre track running.

As a wide range of values has been reported for the relative energetics of 400-m and 800-m track running events, this study aimed to quantify the respective aerobic and anaerobic energy contributions to these events during track running. Sixteen trained 400-m (11 males, 5 females) and 11 trained 800-m (9 males, 2 females) athletes participated in this study. The participants performed (on separate days) a laboratory graded exercsie test and multiple race time-trials.

A micromethod for the stereochemical analysis of fatty acid desaturase-mediated sulfoxidation reactions.

The stereochemistry of fatty acid desaturase-mediated sulfoxidation can be evaluated at micromolar concentrations of analyte using (19)F NMR in combination with a chiral shift reagent: (S)-(+)-MPAA.

Comparison of erythrocyte and skeletal muscle creatine accumulation following creatine loading.

This study attempted to determine the relationship between creatine (Cr) accumulation in human skeletal muscle and erythrocytes following Cr supplementation. If a strong relationship exists, a blood test might provide a practical, less invasive alternative than muscle biopsy for evaluating cellular Cr accumulation. Eighteen active, but not well-trained males were supplemented with Cr (4 x 5 g/d) for 5 d.

Concerning the origin of 19F-19F NMR COSY and NOESY connections in the spectra of perfluorooctanoic acid, R(F)-palmitic acid-F13 and diethyl perfluorosuberate.

A combination of 19F nuclear Overhauser effects (NOE) and molecular mechanics calculations are presented for delineating the spatial origin of the well-known four-bond 19F-19F COSY connections which are generally observed in the 19F NMR spectra of compounds containing perfluorinated chains. Perfluorooctanoic acid (PFOA), R(F)-palmitic acid-F13 and diethyl perfluorosuberate were used as test cases. Spin-lattice relaxation times (T1) are included and NOESY correlations through three and four bonds occur.

Kinematic and electromyography analysis of submaximal differences running on a firm surface compared with soft, dry sand.

Kinematic and electromyography (EMG) aspects of running on a firm surface and on soft, dry sand were studied to elucidate mechanisms contributing to the higher energy cost (EC) of sand running. Eight well-trained males (mean VO(2max) 64.3+/-8.

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.

Mosaicism for trisomy 20 is generally ascertained following prenatal sampling and rarely is associated with significant phenotypic abnormalities. Uniparental disomy for chromosome 20 in the euploid lines has been found in several cases, which showed relatively mild clinical features, primarily growth delay. Here we report on a case of mosaic trisomy 20 in a child with normal neurologic development who was ascertained because of multiple physical anomalies including spinal segmentation anomalies and altered skin pigmentation.

Time-motion analysis of elite field hockey, with special reference to repeated-sprint activity.

Limited information exists about the movement patterns of field-hockey players, especially during elite competition. Time-motion analysis was used to document the movement patterns during an international field-hockey game. In addition, the movement patterns of repeated-sprint activity were investigated, as repeated-sprint ability is considered to be an important fitness component of team-sport performance.

Iridium luminophore complexes for unimolecular oxygen sensors.

In this study, a series of novel luminescent cyclometalated Ir(III) complexes has been synthesized and evaluated for use in unimolecular oxygen-sensing materials. The complexes Ir(C6)(2)(vacac), 1, Ir(ppy)(2)(vacac), 2, fac-Ir(ppy)(2)(vppy), 3, and mer-Ir(ppy)(2)(vppy), 4, where C6 = Coumarin 6, vacac = allylacetoacetate, ppy = 2-phenylpyridine, and vppy = 2-(4-vinylphenyl)pyridine, all have pendent vinyl or allyl groups for polymer attachment via the hydrosilation reaction. These luminophore complexes were characterized by NMR, absorption, and emission spectroscopy, luminescence lifetime and quantum yield measurements, elemental analysis, and cyclic voltammetry.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder resulting from microdeletion within the same band.