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Biomedical subjects

C Capelli

Publications and source records attributed to C Capelli.

At least 19 recordsLinked to original sources

Factors determining the time course of VO2(max) decay during bedrest: implications for VO2(max) limitation.

The aim of this study was to characterize the time course of maximal oxygen consumption VO2(max) changes during bedrests longer than 30 days, on the hypothesis that the decrease in VO2(max) tends to asymptote. On a total of 26 subjects who participated in one of three bedrest campaigns without countermeasures, lasting 14, 42 and 90 days, respectively, VO2(max) maximal cardiac output (Qmax) and maximal systemic O2 delivery (QaO2max) were measured. After all periods of HDT, VO2max, Qmax, and QaO2max were significantly lower than before. The VO2max decreased less than qmax after the two shortest bedrests, but its per cent decay was about 10% larger than that of Qmax after 90-day bedrest. The VO2max decrease after 90-day bedrest was larger than after 42- and 14-day bedrests, where it was similar. The Qmax and QaO2max declines after 90-day bedrest was equal to those after 14- and 42-day bedrest. The average daily rates of the VO2max, Qmax, and QaO2max decay during bedrest were less if the bedrest duration were longer, with the exception of that of VO2max in the longest bedrest. The asymptotic VO2max decay demonstrates the possibility that humans could keep working effectively even after an extremely long time in microgravity. Two components in the VO2max decrease were identified, which we postulate were related to cardiovascular deconditioning and to impairment of peripheral gas exchanges due to a possible muscle function deterioration.

Adaptation, Physiological↗

Bioenergetics of a slalom kayak (k1) competition.

The aim of this study was: i) to compute an energy balance of a slalom kayak competition by measuring the percentage contributions of the aerobic and anaerobic energy sources to total metabolic power (E(tot)); and ii) to compare these data with those obtained, on the same subjects, over a flat-water course covered at maximal speed in a comparable time. Experiments were performed on eight middle- to high-class slalom kayakers (24.8 +/- 8.1 years of age, 1.75 +/- 0.04 m of stature, and 69.8 +/- 4.7 kg of body mass) who completed the slalom race in 85.8 +/- 5.3 s and covered the flat water course in 88.1 +/- 7.7 s. E(tot) was calculated from measures of oxygen consumption and of blood lactate concentration: it was about 30 % larger during the flat water all-out test (1.72 +/- 0.18 kW) than during the slalom race (1.35 +/- 0.12 kW). However, in both cases, about 50 % of E(tot) derives from aerobic and about 50 % from anaerobic energy sources. These data suggest that, besides training for skill acquisition and for improving anaerobic power, some high intensity, cardiovascular conditioning should be inserted in the training programs of the athletes specialised in this sport.

Adult↗

Population structure in the Mediterranean basin: a Y chromosome perspective.

The Mediterranean region has been characterised by a number of pre-historical and historical demographic events whose legacy on the current genetic landscape is still a matter of debate. In order to investigate the degree of population structure across the Mediterranean, we have investigated Y chromosome variation in a large dataset of Mediterranean populations, 11 of which are first described here. Our analyses identify four main clusters in the Mediterranean that can be labelled as North Africa, Arab, Central-East and West Mediterranean. In particular, Near Eastern samples tend to separate according to the presence of Arab Y chromosome lineages, suggesting that the Arab expansion played a major role in shaping the current genetic structuring within the Fertile Crescent.

Chromosomes, Human, Y↗

Alveolar oxygen uptake kinetics with step, impulse and ramp exercise in humans.

The breath-by-breath VO2A of five male subjects (21.2 years +/-3.2; 78.8 kg +/-5.9; 179.6 cm +/-5.8) was measured during a cycling exercise. Starting from a 10 W baseline, the subjects performed (i) ON and OFF step transitions (ST-ON; ST-OFF) to 50, 90, and 130 W; (ii) a ramp (R) exercise with work rate gradually increasing by 20 W min(-1); (iii) impulse transitions (I) to 250 and 410 W lasting 10 and 5 s, respectively. The VO2A data was modelled using non-linear weighted least square regressions. The amplitudes of the VO2A response turned out to be proportional to the input work rate intensities in all the modalities of exercise. Time constants (tau) and time delays (t (d)) of ST-ON and R responses were not significantly different, whereas those of ST-OFF were characterised by longer tau values. tau and t (d) of I responses turned out to be identical to those of ST-ON when the VO2A responses were fitted using a five-component model. These results suggest that: (i) the system controlling alveolar gas exchange behaves linearly when it is forced by ST and R inputs (the ON and OFF phases being considered separate); (ii) the analysis of the I response depends strongly on the models selected to fit the VO2A data. The asymmetry between the ON and OFF responses mirrors that found between the splitting and resynthesis rates of phosphocreatine, and these results support the notion that phosphocreatine could be the main controller of the skeletal muscle respiratory turnover in humans.

Adolescent↗

Energy cost of swimming of elite long-distance swimmers.

The aim of this study was: (1) to assess the energy cost of swimming (C(s), kJ km(-1)) in a group of male (n = 5) and female (n = 5) elite swimmers specialised in long-distance competitions; (2) to evaluate the possible effect of a 2-km trial on the absolute value of C(s). C(s) was assessed during three consecutive 400-m trials covered in a 50-m pool at increasing speeds (v1, v2, v3). After these experiments the subjects swam a 2-km trial at the 10-km race speed (v2km) after which the three 400-m trials were repeated at the same speed as before (v5 = v1, v6 = v2, v7 = v3). C(s) was calculated by dividing the net oxygen uptake at steady state VO2ss by the corresponding average speed (v, m s(-1)). VO2ss was estimated by using back extrapolation technique from breath-to-breath VO2 recorded during the first 30 s of recovery after each test. C(s) increased (from 0.69 kJ m(-1) to 1.27 kJ m(-1)) as a function of v (from 1.29 m s(-1) to 1.50 m s(-1)), its values being comparable to those measured in elite short distance swimmers at similar speeds. In both groups of subjects the speed maintained during the 2-km trial (v2km) was on the average only 1.2% faster than of v2 and v6 (P>0.05), whereas C(s) assessed at the end of the 2-km trial (v2km) turned out to be 21 +/- 26% larger than that assessed at v2 and v6 (P<0.05); the average stroke frequency (SF, cycles min(-1)) during the 2-km trial turned to be about 6% (P<0.05) faster than that assessed at v2 and v6. At v5, C(s) turned out to be 19 +/- 9% (P<0.05) and 22 +/- 27% (0.1 < P = 0.05) larger than at v1 in male and female subjects (respectively). SF was significantly faster (P<0.05, in male subjects) and the distance per stroke (Ds = v/SF) significantly shorter (P<0.05) in female subjects at v5 and v6 than at v1 and v2. These data suggest that the increase of C(s) found after the 2-km trial was likely related to a decrease in propelling efficiency, since the latter is related to the distance per stroke.

Adult↗

Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts.

A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in order to evaluate the distribution of mitochondrial DNA (mtDNA) heteroplasmy amongst the hairs of an individual who displays point heteroplasmy in blood and buccal cells. A second aim of the exercise was to study reproducibility of mtDNA sequencing of hairs between laboratories using differing chemistries, further to the first mtDNA reproducibility study carried out by the EDNAP group. Laboratories were asked to type 2 sections from each of 10 hairs, such that each hair was typed by at least two laboratories. Ten laboratories participated in the study, and a total of 55 hairs were typed. The results showed that the C/T point heteroplasmy observed in blood and buccal cells at position 16234 segregated differentially between hairs, such that some hairs showed only C, others only T and the remainder, C/T heteroplasmy at varying ratios. Additionally, differential segregation of heteroplasmic variants was confirmed in independent extracts at positions 16093 and the poly(C) tract at 302-309, whilst a complete A-G transition was confirmed at position 16129 in one hair. Heteroplasmy was observed at position 16195 on both strands of a single extract from one hair segment, but was not observed in the extracts from any other segment of the same hair. Similarly, heteroplasmy at position 16304 was observed on both strands of a single extract from one hair. Additional variants at positions 73, 249 and the HVII poly(C) region were reported by one laboratory; as these were not confirmed in independent extracts, the possibility of contamination cannot be excluded. Additionally, the electrophoresis and detection equipment used by this laboratory was different to those of the other laboratories, and the discrepancies at position 249 and the HVII poly(C) region appear to be due to reading errors that may be associated with this technology. The results, and their implications for forensic mtDNA typing, are discussed in the light of the biology of hair formation.

DNA, Mitochondrial↗

New acquisitions in the assessment of breath-by-breath alveolar gas transfer in humans.

We summarise recent results obtained in testing some of the algorithms utilised for estimating breath-by-breath (BB) alveolar O2 transfer (VO2A) in humans. VO2A is the difference of the O2 volume transferred at the mouth minus the alveolar O2 stores changes. These are given by the alveolar volume change at constant O2 fraction (FAiO2 DeltaVAi) plus the O2 alveolar fraction change at constant volume [V(Ai-1)(FAi-F(Ai-1))O2], where V(Ai-1) is the alveolar volume at the beginning of the breath i. All these quantities can be measured BB, with the exception of V(Ai-1), which is usually set equal to the subject's functional residual capacity (FRC) (Auchincloss algorithm, AU). Alternatively, the respiratory cycle can be defined as the time elapsing between two equal O2 fractions in two subsequent breaths (Grønlund algorithm, GR). In this case, FAiO2= F(Ai-1)O2 and the term V(Ai-1)(FAi-F(Ai-1))O2 disappears. BB alveolar gas transfer was first determined at rest and during exercise at steady-state. AU and GR showed the same accuracy in estimating alveolar gas transfer; however GR turned out to be significantly more precise than AU. Secondly, the effects of using different V(Ai-1) values in estimating the time constant of alveolar O2 uptake (VO2A) kinetics at the onset of 120 W step exercise were evaluated. VO2A was calculated by using GR and by using (in AU) V(Ai-1) values ranging from 0 to FRC +0.5 l. The time constant of the phase II kinetics (tau2) of VO2A increased linearly, with V(Ai-1) ranging from 36.6 s for V(Ai-1)=0 to 46.8 s for V(Ai-1)=FRC+0.5 l, whereas tau2 amounted to 34.3 s with GR. We concluded that, when using AU in estimating VO2A during step exercise transitions, the tau2 value obtained depends on the assumed value of V(Ai-1).

Algorithms↗

Energy balance of human locomotion in water.

In this paper a complete energy balance for water locomotion is attempted with the aim of comparing different modes of transport in the aquatic environment (swimming underwater with SCUBA diving equipment, swimming at the surface: leg kicking and front crawl, kayaking and rowing). On the basis of the values of metabolic power (E), of the power needed to overcome water resistance (Wd) and of propelling efficiency (etaP=Wd/Wtot, where Wtot is the total mechanical power) as reported in the literature for each of these forms of locomotion, the energy cost per unit distance (C=E/v, where v is the velocity), the drag (performance) efficiency (etad=Wd/E) and the overall efficiency (etao=Wtot/E=etad/etaP) were calculated. As previously found for human locomotion on land, for a given metabolic power (e.g. 0.5 kW=1.43 l.min(-1) VO2) the decrease in C (from 0.88 kJ.m(-1) in SCUBA diving to 0.22 kJ.m(-1) in rowing) is associated with an increase in the speed of locomotion (from 0.6 m.s(-1) in SCUBA diving to 2.4 m.s(-1) in rowing). At variance with locomotion on land, however, the decrease in C is associated with an increase, rather than a decrease, of the total mechanical work per unit distance (Wtot, kJ.m(-1)). This is made possible by the increase of the overall efficiency of locomotion (etao=Wtot/E=Wtot/C) from the slow speeds (and loads) of swimming to the high speeds (and loads) attainable with hulls and boats (from 0.10 in SCUBA diving to 0.29 in rowing).

Algorithms↗

"Ancient" protocols for the crime scene? Similarities and differences between forensic genetics and ancient DNA analysis.

We provide a short overview on some current issues in the fields of forensic genetics and ancient DNA (aDNA) analysis. We discuss about the existence of the possible points of contact between the two disciplines, in terms of open problems and the inherent approach to their solution. We mainly focus on the problem of results authentication, its theoretical and technical aspects.

DNA↗

Breath-by-breath alveolar oxygen transfer at the onset of step exercise in humans: methodological implications.

The effects of using different algorithms to estimate the time constant of changes in oxygen uptake at the onset of square-wave 120 W cycloergometric exercise were evaluated in seven subjects. The volume of oxygen taken up at the alveoli (VO(2Ai)) was determined breath-by-breath (BB) from the volume of O(2) transferred at the mouth (VO(2mi)) minus the corresponding volume changes in O(2) stores in the alveoli: VO(2Ai)= VO(2mi)-[V(Ai-1)(FO(2Ai)- FO(2Ai-1))+ FO(2Ai) x Delta V(Ai)], where V(Ai-1) is the alveolar volume at the end of the previous breath, FO(2Ai) and FO(2Ai-1) are estimated from the fractions of end-tidal O(2) in the current and previous breaths, respectively, and Delta V(Ai) is the change in volume during breath i. These quantities can be measured BB, with the exception of V(Ai-1) which must be assumed. The respiratory cycle has been defined as the time elapsing between identical fractions of expiratory gas in two successive breaths. Using this approach, since FO(2Ai)= FO(2Ai-1), any assumption regarding V(Ai-1) becomes unnecessary. In the present study, VO(2Ai) was calculated firstly, by using this approach, and secondly by setting different V(Ai-1) values (from 0 to FRC+0.5 l, where FRC is the functional residual capacity). Values for alveolar O(2) flow (VO(2Ai)), as calculated from the quotient of VO(2Ai) divided by breath duration, were then fitted bi-exponentially. The time constant of the phase II kinetics of VO(2Ai) (tau(2)) was linearly related to V(Ai-1), increasing from 36.6 s (V(Ai-1)=0) to 46.8 s (V(Ai-1)=FRC+0.5 l) while tau(2) estimated using the first approach amounted to 34.3 s. We concluded that, firstly, the first approach allowed us to calculate O(2A) during transitions in step exercise; and secondly, when using methods wherein V(Ai-1) must be assumed, tau(2) depended on V(Ai-1).

Adult↗

Results of a collaborative study of the EDNAP group regarding the reproducibility and robustness of the Y-chromosome STRs DYS19, DYS389 I and II, DYS390 and DYS393 in a PCR pentaplex format.

A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in the frame work of the STADNAP program, i.e. standardization of DNA profiling in Europe, in order to evaluate the performance of a Y-chromosome STR pentaplex, which includes the loci DYS19, DYS389 I and II, DYS390 and DYS393 and to determine whether uniformity of results could be achieved among different European laboratories. Laboratories were asked to analyze the five Y-STRs using singleplex and multiplex conditions in three bloodstains and one mixed stain (95% female and 5% male). All the laboratories reported the same results even for the mixed stain included in the exercise. This demonstrates the reproducibility and robustness of Y-chromosome STR typing even with multiplex formats and proves the usefulness of Y-STR systems for analyzing mixed stains with a male component.A total of 930 male samples from 10 different populations from Europe were also analysed for all the loci included in the pentaplex. Eight of these ten populations also included haplotype data. As for single gene analysis, haplotype diversity was higher in Germany and Italy and lower in Western European countries and Finland. Pairwise haplotype analysis shows the Finnish departure from the rest of the populations and a relatively homogeneity in the other European populations with F(ST) estimates lower than 0.05.UPGMA analysis shows an association of Western European population (Ireland, UK, Portugal and Galicia) on the one hand and central European populations on the other.

Blood Stains↗

A predominantly indigenous paternal heritage for the Austronesian-speaking peoples of insular Southeast Asia and Oceania.

Modern humans reached Southeast Asia and Oceania in one of the first dispersals out of Africa. The resulting temporal overlap of modern and archaic humans-and the apparent morphological continuity between them-has led to claims of gene flow between Homo sapiens and H. erectus. Much more recently, an agricultural technology from mainland Asia spread into the region, possibly in association with Austronesian languages. Using detailed genealogical study of Y chromosome variation, we show that the majority of current Austronesian speakers trace their paternal heritage to Pleistocene settlers in the region, as opposed to more-recent agricultural immigrants. A fraction of the paternal heritage, however, appears to be associated with more-recent immigrants from northern populations. We also show that the northern Neolithic component is very unevenly dispersed through the region, with a higher contribution in Southeast Asia and a nearly complete absence in Melanesia. Contrary to claims of gene flow (under regional continuity) between H. erectus and H. sapiens, we found no ancestral Y chromosome lineages in a set of 1,209 samples. The finding excludes the possibility that early hominids contributed significantly to the paternal heritage of the region.

Asia, Southeastern↗

A repository of 14 PCR-loci Italian gene frequencies in the World Wide Web.

A collection of 6830 typing results produced by the Immunohematology Laboratory at the UCSC, pertaining to 11 STRs (FES/FPS, vWA31, HUMTH01, F13A1, MBP, D21S11, D7S460, D18S51, CD4, TPOX, CSF1PO) and 3 AmpFLPs (D1S80, APO-B, COL2A1), is publicly available as an electronic archive at a website.

DNA Fingerprinting↗

New perspectives in breath-by-breath determination of alveolar gas exchange in humans.

Alveolar gas transfer over a given breath (i) was determined in ten subjects at rest and during steady-state cycling at 60, 90 or 120 W as the sum of volume of gas transferred at the mouth plus the changes of the alveolar gas stores. This is given by the gas fraction (FA) change at constant volume plus the volume change (deltaVAi) at constant fraction i.e. VAi-1(FAi-FAi-1)+FAi x deltaVAi, where VAi-1 is the end-expiratory volume at the beginning of the breath. These quantities, except for VAi-1, can be measured on a single-breath (breath-by-breath) basis and VAi-1 set equal to the subject's functional residual capacity (FRC, Auchincloss model). Alternatively, the respiratory cycle can be defined as the interval elapsing between two equal expiratory gas fractions in two successive breaths (Grønlund model G). In this case, Ft1 = Ft2 and thus the term VAi-1 (FAi-FAi-1) vanishes. In the present study, average alveolar O2 uptake (VO2,A) and CO2 output (VCO2,A) were equal in both approaches whereby the mean signal-to-noise ratio (S/N) was 40% larger in G. Other approaches yield steady state S/N values equal to that obtained in G, although they are based on the questionable assumption that the inter-breath variability of alveolar gas transfer is minimal. It is concluded that the only promising approach for assessing "true" single-breath alveolar gas transfer is that originally proposed by Grønlund.

Adult↗

Evolution of endogenous retrovirus-like elements of the woolly mammoth (Mammuthus primigenius) and its relatives.

Endogenous retrovirus-like elements characterizable by a leucine tRNA primer (ERV-Ls) are reiterated genomic sequences known to be widespread in mammals, including humans. They may have arisen from an ancestral foamy virus-like element by successful germ line infection followed by copy number expansion. However, among mammals, only primates and rodents have thus far exhibited high copy number amplification and sequence diversification. Conventionally, empirical studies of proviral amplification and diversification have been limited to extant species, but taxa having good Quaternary fossil records could potentially be investigated using the techniques of "ancient" DNA research. To examine evolutionary parameters of ERV-Ls across both time and taxa, we characterized this proviral class in the extinct woolly mammoth (Mammuthus primigenius) and living elephants, as well as extant members of the larger clade to which they belong (Uranotheria, a group containing proboscideans, sirenians, hyraxes, and their extinct relatives). Ungulates and carnivores previously analyzed demonstrated low copy numbers of ERV-L sequences, and thus it was expected that uranotheres should as well. Here, we show that all uranothere taxa exhibit unexpectedly numerous and diverse ERV-L sequence complements, indicating active expansion within this group of lineages. Selection is the most parsimonious explanation for observed differences in ERV-L distribution and frequency, with relative success being reflected in the persistence of certain elements over a variety of sampled time depths (as can be observed by comparing sequences from fossil and extant elephantid samples).

Animals↗