To detect large genomic deletions or duplications of ornithine transcarbamylase (OTC) gene by multiplex ligation-dependent probe amplification (MLPA).
Thirty cases of suspected OTC deficiency (OTCD) ...patients based on tandem-mass spectrum results were recruited in Xinhua Hospital from 2012 to 2014, among whom 13 were male and 17 were female. Sanger sequencing of OTC gene revealed mutations in 23 cases. MLPA was performed in the patients whose previous Sanger sequencing failed to detect any disease-causing mutation. The samples were treated via the steps of DNA degeneration, the probe hybridization, connecting the hybridization probe, PCR amplification and capillary electrophoresis. The data were analyzed using Coffalyser software.
Abnormal MLPA results were found in 5 patients without mutation detected in previous Sanger sequencing. Patient 1, a 9-year old girl, had a heterozygous deletion of Exon 2-4. Patient 2, a male newborn, died 10 days after birth. The examination of the mother's sample by MLPA revealed
A new vibrational imaging method based on coherent anti-Stokes Raman scattering (CARS) has been used for high-speed, selective imaging of neutral lipid droplets (LDs) in unstained live fibroblast ...cells. LDs have a high density of C-H bonds and show a high contrast in laser-scanning CARS images taken at 2,845 cm−1, the frequency for aliphatic C-H vibrations. The contrast from LDs was confirmed by comparing CARS and Oil Red O (ORO)-stained fluorescence images. The fluorescent labeling processes were examined with CARS microscopy. It was found that ORO staining of fixed cells caused aggregation of LDs, whereas fixing with formaldehyde or staining with Nile Red did not affect LDs. CARS microscopy was also used to monitor the 3T3-L1 cell differentiation process, revealing that there was an obvious clearance of LDs at the early stage of differentiation. After that, the cells started to differentiate and reaccumulate LDs in the cytoplasm in a largely unsynchronized manner. Differentiated cells formed small colonies surrounded by undifferentiated cells that were devoid of LDs.
These observations demonstrate that CARS microscopy can follow dynamic changes in live cells with chemical selectivity and noninvasiveness. CARS microscopy, in tandem with other techniques, provides exciting possibilities for studying LD dynamics under physiological conditions without perturbation of cell functions.
A
bstract
By analyzing 4
.
48 × 10
8
ψ
(3686) events collected with the BESIII detector, we observe the decays
χ
cJ
→
nK
S
0
Λ
¯
+ c
.
c
.
(
J
= 0, 1, 2) for the first time, via the radiative ...transition
ψ
(3686) →
γχ
cJ
. The branching fractions are determined to be (6
.
65 ± 0
.
26
stat
± 0
.
41
syst
) × 10
−
4
, (1
.
66 ± 0
.
12
stat
± 0
.
12
syst
) × 10
−
4
, and (3
.
58 ± 0
.
16
stat
± 0
.
23
syst
) × 10
−
4
for
J
= 0, 1, and 2, respectively.
The impact of supersonic molecular beam injection (SMBI) fuelling on the plasma turbulence and shear flows, which form a self-consistent state, has been studied in the HL-2A tokamak. The SMBI ...flattens the shear layer by the collisional flow damping and increases the turbulence intensity. It is found that the SMBI can enhance the non-linear regulation dynamics and acts as an external tool for turbulence quench via stimulating two dynamic processes. The SMBI-stimulated non-linear interactions facilitate the L-H transition at the marginal heating power for accessing the H-mode. The effective reduction of the H-mode power threshold by SMBI is demonstrated. The result suggests that the SMBI could be a general tool for realization of controllable L-H transition via reducing the H-mode power threshold in future devices.
We search for rare decays of D mesons to hadrons accompanied by an electron-positron pair (h(h(′))e+e−), using an e+e− collision sample corresponding to an integrated luminosity of 2.93 fb−1 ...collected with the BESIII detector at s=3.773 GeV. No significant signals are observed, and the corresponding upper limits on the branching fractions at the 90% confidence level are determined. The sensitivities of the results are at the level of 10−5–10−6, providing a large improvement over previous searches.
Since the last Fusion Energy Conference, significant progress has been made in the following areas. The first high coupling efficiency low-hybrid current drive (LHCD) with a passive-active ...multi-junction (PAM) antenna was successfully demonstrated in the H-mode on the HL-2A tokamak. Double critical impurity gradients of electromagnetic turbulence were observed in H-mode plasmas. Various ELM mitigation techniques have been investigated, including supersonic molecular beam injection (SMBI), impurity seeding, resonant magnetic perturbation (RMP) and low-hybrid wave (LHW). The ion internal transport barrier was observed in neutral beam injection (NBI) heated plasmas. Neoclassical tearing modes (NTMs) driven by the transient perturbation of local electron temperature during non-local thermal transport events have been observed, and a new type of non-local transport triggered by the ion fishbone was found. A long-lasting runaway electron plateau was achieved after argon injection and the runaway current was successfully suppressed by SMBI. It was found that low-n Alfvénic ion temperature gradient (AITG) modes can be destabilized in ohmic plasmas, even with weak magnetic shear and low-pressure gradients. For the first time, the synchronization of geodesic acoustic mode (GAM) and magnetic fluctuations was observed in edge plasmas, revealing frequency entrainment and phase lock. The spatiotemporal features of zonal flows were also studied using multi-channel correlation Doppler reflectometers.
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