30 research outputs found
Y-chromosome haplogroup architecture confers susceptibility to azoospermia factor c microrearrangements: a retrospective study
Aim To assess the association between azoospermia factor
c microrearrangements and semen quality, and between
Y-chromosome background with distinct azoospermia
factor c microrearrangements and semen quality impairment.
Methods This retrospective study, carried out in the Research
Center for Genetic Engineering and Biotechnology
“Georgi D. Efremov,” involved 486 men from different ethnic
backgrounds referred for couple infertility from 2002-
2017: 338 were azoospermic/oligozoospermic and 148
were normozoospermic. The azoospermia factor c microrearrangements
were analyzed with sequence tagged
site and sequence family variant markers, quantitative fluorescent
polymerase chain reaction, and multiplex ligation
probe amplification analysis. The Y-haplogroups of all participants
were determined with direct single nucleotide
polymorphism typing and indirect prediction with short
tandem repeat markers.Results Our participants had two types of microdeletions:
gr/gr and b2/b3; three microduplications: b2/b4, gr/gr,
and b2/b3; and one complex rearrangement gr/gr deletion
+ b2/b4 duplication. Impaired semen quality was not
associated with microrearrangements, but b2/b4 and gr/
gr duplications were significantly associated with haplogroup
R1a (P < 0.001 and P = 0.003, respectively) and b2/b3
deletions with haplogroup E (P = 0.005). There were significantly
more b2/b4 duplication carriers in Albanians than in
Macedonians with haplogroup R1a (P = 0.031).
Conclusion Even though azoospermia factor c partial
deletions/duplications and Y-haplogroups were not associated
with impaired semen quality, specific deletions/
duplications were significantly associated with distinct
haplogroups, implying that the Y chromosome background
may confer susceptibility to azoospermia factor c
microrearrangements
35th International Cosmic Ray Conference, ICRC 2017
PKS 1510-089 (z=0.361) is one of only a handful of flat spectrum radio quasars that have been detected at very high energy (VHE, E > 100GeV) gamma rays. It is a very active source across the entire electromagnetic spectrum. VHE observations in May 2016 with H.E.S.S. and MAGIC revealed an exceptionally strong flare, which lasted for less than two nights, and exhibited a peak flux of about 0.8 times the flux of the Crab Nebula above 200GeV. The flare provides the first evidence of intranight variability at VHE in this source. While optical observations with ATOM reveal a counterpart at optical frequencies, Fermi-LAT observations reveal only low flux variability at high energy (HE, E > 100 MeV) gamma rays. Interestingly, the HE spectral index significantly hardens during the peak of the VHE flare, indicating a strong shift of the peak frequency of the high energy component. Given the expected strong absorption due to the broad-line region, the VHE emission region cannot be located deep within that region.</p
Transient cardiac dysfunction but elevated cardiac and kidney biomarkers 24Â h following an ultra-distance running event in Mexican Tarahumara.
BACKGROUND: The Mexican Tarahumara are accustomed to running ultra-distance races. No data exist on the acute physiological changes following ultra-distance running and physiological-biomarker associations in this population. Thus, we aimed to investigate the acute impact (≤ 24 h) on functional and biochemical changes of the cardiac muscle and biochemical changes associated with kidney function following a 63-km ultra-distance race with an altitude difference of 1800 m in Mexican Tarahumara athletes. METHODS: Ten Tarahumara male athletes (mean ± SD age = 29.9 ± 6.6 years) volunteered to participate in the study. VO2max was assessed by a sub-maximal step test individually calibrated combining heart rate and accelerometry. Standard transthoracic echocardiography methodology and venipuncture blood tests were carried out at four time points: pre-race, immediately post-race, 6 h, and 24 h post-race. RESULTS: Estimated mean VO2max was 54.5 (± 8.8) mL O2 min-1 kg-1 and average physiological activity intensity was 746 (± 143) J min-1 kg -1 (~ 11.5 METs). When compared to pre-race values, significant changes in left ventricular ejection fraction (LVEF) and LV end-diastolic volume (- 15%, p < 0.001 for both parameters), cardiac output (39%, p < 0.001), and maximal longitudinal velocity (- 13%, p < 0.009) were seen post-race with LVEF also being decreased at < 6 h post-race (- 8%, p < 0.014). Plasma biomarkers mid-regional pro-atrial natriuretic peptide, copeptin-ultra sensitive, and high-sensitivity cardiac troponin T remained significantly elevated at 24 h post-race, and the two latter were inversely associated with LVEF (p < 0.04). Kidney dysfunction was indicated by increased post-race copeptin-ultra sensitive. CONCLUSIONS: The athletes participating in this study had acute transient cardiac dysfunction as assessed by echocardiography but elevated cardiac and kidney biomarkers at 24 h following a 63-km race with extreme altitude variation
MAGIC and H.E.S.S. detect VHE gamma rays from the blazar OT081 for the first time: a deep multiwavelength study
https://pos.sissa.it/395/815/pdfPublished versio
Postprandial Plasma Concentrations of ProANP in Patients with Type 2 Diabetes and Healthy Controls
Multilevel regression modeling for aneuploidy classification and physical separation of maternal cell contamination facilitates the QF-PCR based analysis of common fetal aneuploidies.
BackgroundThe quantitative fluorescent polymerase chain reaction (QF-PCR) has proven to be a reliable method for detection of common fetal chromosomal aneuploidies. However, there are some technical shortcomings, such as uncertainty of aneuploidy determination when the short tandem repeats (STR) height ratio is unusual due to a large size difference between alleles or failure due to the presence of maternal cell contamination (MCC). The aim of our study is to facilitate the implementation of the QF-PCR as a rapid diagnostic test for common fetal aneuploidies.MethodsHere, we describe an in-house one-tube multiplex QF-PCR method including 20 PCR markers (15 STR markers and 5 fixed size) for rapid prenatal diagnosis of chromosome 13, 18, 21, X and Y aneuploidies. In order to improve the aneuploidy classification of a given diallelic STR marker, we have employed a multilevel logistic regression analysis using "height-ratio" and "allele-size-difference" as fixed effects and "marker" as a random effect. We employed two regression models, one for the 2:1 height ratio (n = 48 genotypes) and another for the 1:2 height ratio (n = 41 genotypes) of the trisomic diallelic markers while using the same 9015 genotypes with normal 1:1 height ratio in both models. Furthermore, we have described a simple procedure for the treatment of the MCC, prior DNA isolation and QF-PCR analysis.ResultsFor both models, we have achieved 100% specificity for the marker aneuploidy classification as compared to 98.60% (2:1 ratio) and 98.04% (1:2 ratio) specificity when using only the height ratio for classification. Treatment of the MCC enables a successful diagnosis rate of 76% among truly contaminated amniotic fluids.ConclusionsAdjustment for the allele size difference and marker type improves the STR aneuploidy classification, which, complemented with appropriate treatment of contaminated amniotic fluids, eliminates sample re-testing and reinforces the robustness of the QF-PCR method for prenatal testing
The exceptional VHE gamma-ray outburst of PKS 1510-089 in May 2016
International audiencePKS 1510-089 (z=0.361) is one of only a handful of flat spectrum radio quasars that have been detected at very high energy (VHE, GeV) gamma rays. It is a very active source across the entire electromagnetic spectrum. VHE observations in May 2016 with H.E.S.S. and MAGIC revealed an exceptionally strong flare, which lasted for less than two nights, and exhibited a peak flux of about 0.8 times the flux of the Crab Nebula above GeV. The flare provides the first evidence of intranight variability at VHE in this source. While optical observations with ATOM reveal a counterpart at optical frequencies, {\it Fermi}-LAT observations reveal only low flux variability at high energy (HE, MeV) gamma rays. Interestingly, the HE spectral index significantly hardens during the peak of the VHE flare, indicating a strong shift of the peak frequency of the high energy component. Given the expected strong absorption due to the broad-line region, the VHE emission region cannot be located deep within that region