Williams Syndrome with a “Twist”

Eric Gray Danielle Sandoval Jeffrey Lynn

Carter Limited
14 Meredith Street
Mungay Creek, NSW, 2440
eric.gray@carter.com
Robert Gomez
Configurable Deliverables
6 Zimmerman Street
Fadden, ACT, 2904
robert.gomez@configurable.com
Turner Methodologies
28 Sanders Laneway Street
Tinamba, VIC, 3859
danielle.sandoval@turnermethodologies.com
Brandy Abbott
Multi-layered Platforms International
76 Franco Ridge Avenue
Emu Bay, SA, 5223
brandy.abbott@multilayeredplatforms.com
Business-focused Platforms
88 Palmer Street
Trinity Beach, QLD, 4879
jeffrey.lynn@businessfocusedplatforms.co
m
Kelly Gaines
Galvan, Scott and Caldwell Ltd.
54 Jacob Subway Parade
Windowie, NSW, 2720
kelly.gaines@galvan.com

Abstract—Williams syndrome is a rare genetic condition
with multisystemic involvement, caused by a microscopic
deletion in the chromosome band 7q11.23. We describe the first
case of a toddler with Williams syndrome who developed
Benign Paroxysmal Torticollis (BPT), a benign dystonic
disorder of unknown aetiology.
I. INTRODUCTION
The total flavonoid contents of the extracts varied
according to the extraction solvent, the phenological stage,
and the host plant on which P. capitata grows (Figure 4(b)).
Thus, this class of phenolic compounds was best extracted
with methanol, ethanol, and ethyl acetate. Hexane and water
extracted the lowest, regardless of the phenological stage and
the host plant. However, for P. capitata collected on P.
mannii, the total flavonoids were better extracted by ethyl
acetate, and their contents were significantly different from
those of methanol and ethanol extractions, respectively.
Overall, the flavonoid levels of P. capitata were significantly
higher during fruiting, especially when extracted with ethyl
acetate and to a lesser extent ethanol and methanol regardless
of the plant host on which P. capitata grows.
II.MAIN RESULTS
The immunohistochemistry and western blot technology
were applied to detect the expression of GCS in bladder
tissues and normal tissues. Firstly, the bladder tissues of the
two groups of objects were collected and prepared into
specimens, which were stored in the refrigerator, embedded
in paraffin, and baked in an oven at 60°C for 24 hours. The
paraffin sections were routinely dehydrated. After washing
for many times, they were kept at room temperature
overnight. After treatment with DAB for color development
for about 10 minutes, the sections were counterstained with
hematoxylin, dried, and mounted to observe under a
microscope. qRT-PCR was used to detect the expression
level of miR-141 and STAT4 in the liver cancer tissues and
adjacent tissues collected. TRIzol (Invitrogen, Thermo Fisher
Scientific) was used to extract total RNA. mRNA was
reverse transcribed using the reverse transcription kit
(TaKaRa), and miRNA reverse transcription was synthesized
using the mi Script reverse transcription kit (Qiagen). All
operations were carried out in accordance with the
instructions on the kit. LightCycler 480 (Roche) fluorescent
quantitative PCR instrument was used to detect gene
expression, and the reaction conditions were set according to
the operating instructions on the fluorescent quantitative PCR
kit (SYBR Green Mix, Roche). The thermal cycle parameters
were 95°C for 10 s, then 95°C for 5s, 60°C for 10 s, and 72°C
for 10 s, with a total of 45 cycles; the last 72°C was extended
for 5 min. Quantitative PCR was set to 3 replicates for each
reaction. U6 was used for miRNA internal reference, and
GAPDH was used for mRNA internal reference. 2-ΔΔCt
method was used for data analysis (ΔΔCt = experimental
group (Ct target gene-Ct internal reference), control group
(Ct target gene-Ct internal reference)), and relative
quantitative method was used to calculate the mRNA
expression level of each group. Discrete wavelet transform
deals with the multiresolution analysis of signals under
consideration in both frequency domain and time domain
through wavelet coefficients. Wavelets are small waveforms
having some set oscillations in the time domain, with some
additional properties useful for analyzing edges and transient
properties of a signal to better represent sharp changes and
local features. Wavelet gives better orthogonality among
subcarriers against multipath signal propagation and has
localization in both time and frequency domain. Wavelets
have higher energy compaction since side lobes are of very
small magnitude. In wavelet-based OFDM, there is no
requirement of cyclic prefix and pilot tones which are
potential advantages of this scheme where bandwidth saving
is achieved significantly. The above reasons brought great
challenges to the garbage scattered area detection, resulting
in few related studies found in the published literature. In the
existing literature, Mittal et al. [11] built a dataset containing
the garbage scattered area. Finally, they achieved the
detection accuracy of 87.7% in urban images by using
AlexNet [12]. Wei and Cheng [13] collected 372 urban
images containing the garbage scattered area and expanded
the number of images by 9 times through traditional data
augmentation operations. Finally, they achieved the detection
accuracy of 89.7% by using Faster R-CNN. However, the
above research is based on the garbage scattered area
detection in the urban areas and relies heavily on cameras.
These approaches cannot be implemented in nature reserves.
The study had some limitations. First, subconjunctival
injection after filtration surgery is an invasive approach.
Although a microsyringe was used, wound healing at the
location of the needle in the conjunctiva is likely to
exacerbate the entire scarring process. Second, although this
study determined the effective concentration of adenovirus
based on preliminary experiments, the maximum inhibitory
effect of TIMP-2 was not considered; thus, optimal dose and
concentration have not been established. Accordingly,

Case Reports in Medicine 1687-9635/18/$69.00 ©2018 IEEE

interference factors should be excluded as much as possible,
and the in vitro and in vivo dose-effect relationships should
be established. Further studies are required to facilitate the
application of MMPs and their inhibitors in scar formation
after filtration surgery. Exosomes play critical roles in
mediating cell-to-cell communication by delivering
noncoding RNAs (including miRNAs, lncRNAs, and
circRNAs). Our previous study found that cardiomyocytes
(CMs) subjected to hypoxia released circHIPK3-rich
exosomes to regulate oxidative stress damage in cardiac
endothelial cells. However, the role of exosomes in
regulating angiogenesis after myocardial infarction (MI)
remains unknown. The aim of this study was to establish the
effects of exosomes derived from hypoxia-induced CMs on
the migration and angiogenic tube formation of cardiac
endothelial cells. Here, we reported that hypoxic exosomes
(HPC-exos) can effectively reduce the infarct area and
promote angiogenesis in the border surrounding the infarcted
area. HPC-exos can also promote cardiac endothelial cell
migration, proliferation, and tube formation in vitro.
However, these effects were weakened after silencing
circHIPK3 in hypoxia-induced CMs. We further verified that
silencing and overexpressing circHIPK3 changed cardiac
endothelial cell proliferation, migration, and tube formation
in vitro by regulating the miR-29a expression. In addition,
exosomal circHIPK3 derived from hypoxia-induced CMs
first led to increased VEGFA expression by inhibiting miR-
29a activity and then promoted accelerated cell cycle
progression and proliferation in cardiac endothelial cells.
Overexpression of miR-29a mimicked the effect of silencing
circHIPK3 on cardiac endothelial cell activity in vitro. Thus,
our study provides a novel mechanism by which exosomal
circRNAs are involved in the communication between CMs
and cardiac endothelial cells.
III. CASE STUDIES
W.Z. and X.G. conceptualized the study; W.Z., X.G., and
S.Z. contributed to methodology; W.Z., Y.W., and L.P.
provided software and validated the study; W.Z., L.P., Y.W.,
and S.Z. investigated the study; X.G. contributed to
resources; W.Z., L.P., and S.Z. contributed to data curation;
W.Z., L.P., S.Z., and X.G. wrote, reviewed, and edited the
manuscript; W.Z. contributed to visualization, writing—
original draft preparation, formal analysis, and project
administration; L.P. supervised the study; S.Z. acquired
funding. All authors have read and agreed to the published
version of the manuscript. It is a process of preparation of a
herbal extract by soaking plant material in water, vegetable
oil, or some organic solvent. The whole or coarsely
powdered, air-dried, and pulverised plant material is placed
in a stoppered container with the solvent and allowed to
stand at room temperature for a period of at least 3 days with
frequent agitation until the soluble matter has dissolved. The
mixture then is strained, the marc (the damp solid material) is
pressed, and the combined liquids are clarified by filtration
or decantation after standing [12]. In order to study whether
pyroptosis occurred in CP-induced POF rats, we further
detected the pyroptosis markers, including IL-1β and IL-18,
through ELISA kits. As expected, IL-1β and IL-18 were
increased in POF rats (Figure 3(a)). Mox could decrease the
IL-1β and IL-18 in POF rats. Gasdermin D (GSDMD), which
is a pore-forming protein that promotes the secretion of IL-1β
and IL-18, could induce pyroptosis. The proteins of IL-1β,
IL-18, and cleaved GSDMD were significantly increased in
POF rats, which further indicated that pyroptosis occurred in
the POF rats. Meanwhile, Mox decreased the proteins of IL-
1β, IL-18, and cleaved GSDMD in POF rats (Figure 3(b)).
Preliminary studies showed that pyroptosis occurred in the
POF rats, and Mox could inhibit pyroptosis.
IV. TESTING
FastText is a word vector representation and fast text
classification tool open-sourced by Facebook in 2016 [36]. It
provides a simple and efficient method for text classification
and representation learning. It can achieve accuracy
comparable to deep learning methods but is many orders of
magnitude faster than its training speed. The length of the
opcode sequence of different files may be quite inconsistent.
The fixed-length word vector’s embedding may miss the
text’s critical information or do much useless work that
consumes multiple computing resources. Using the FastText
model’s prediction result as a feature is more suitable for this
type of data. The statistical analyses were performed with
SPSS v. 23.0 (SPSS, Chicago, IL). The Kolmogorov-
Smirnov test was applied to test the normality of the
distribution of the data. To compare temperature data among
different axial load and revolution speed groups, one way
ANOVA was applied, followed by Tukey’s HSD post hoc
tests. To calculate the heat and preparation time differences
among the subjectively defined “optimal” and “suboptimal”
groups simultaneously, the nonparametric Kruskal-Wallis
test (with pairwise comparisons) was used, since the
distributions of the time data were found not normal. The
same method was used to analyze the differences between
average times, which were necessary to reach baseline
temperatures. P values below 0.05 were considered
significant. In addition, we found that soreness was
negatively correlated with pain relief in the present study.
This correlation was identified from baseline to 20 min after
needle removal (VAS-P0  − VAS-P30, VAS-P0  − VAS-P40,
VAS-P0  − VAS-P50,) in subgroup A, but only at 30 min
after needle removal in subgroup C (VAS-P0  − VAS-P60).
Fullness was also negatively associated with pain relief from
baseline to 10 min after needle removal (VAS-P0  − VAS-
P40). Based on these results, we conclude that, although
achieving deqi can predict better treatment effects than non-
deqi, an increased intensity of certain components of deqi
does not necessarily result in better outcomes. Similar
findings have also been reported by Lee et al., who found
that a greater improvement in several pain and sensory
detection thresholds was associated with weaker acupuncture
sensation intensities. The authors further found that
heaviness was negatively correlated with changes in the
vibration detection threshold and that fullness and throbbing
were negatively correlated with changes in the warm
detection threshold [41]. Concerning the results from the
present study, it seems that a moderate sensory response
aroused by acupuncture needling would be propitious for
pain relief. The thrust force produced by T1 and T2 drill
tools is minimal compared to other drill tools. At minimal
rotational speed and tool feed, 28.6 N of thrust force was
obtained during drilling in abaca-based composites.
Similarly, 63.18 N of thrust force has been attained while
drilling Kevlar-based composites. The strong physical
interaction of fiber and matrix and thrust force dispersed
around the circumferential of the drill may be responsible for
minimum thrust force. For abaca, the contribution of tool
feed on the axial force for T3, T2, T4, and T1 drill bits is
92.99%, 92.71%, 98.97%, and 94.22%, respectively.
Likewise, the impact of spindle speed on thrust force of T3,
T2, T4, and T1 drills bits is 5.82%, 3.42%, 5.97%, and
4.91%, respectively. It implies that the tool feed has strong
statistical and physical importance. The same trend is
followed for abaca-reinforced epoxy composites. Hence, it is
evident that T1 and T2 drill bits are appropriate for drilling
abaca and Kevlar-reinforced epoxy resin. In the original
anchor, 128, 256, and 512 are set in order to ensure that the
target object can adapt to various scales. As for anchor
settings with three scales and three proportions, this is
equivalent to a point in the feature map that can correspond
to 9 regions in the original image perception field. Each area
corresponds to an anchor. With supervised learning
parameter training, the model can adjust the parameters, so
that the calculated feature map can correspond to the object
in the original picture. Smaller scales can capture small
differences between objects, which allow different classes of
objects to be distinguished. The larger scale can ensure that
the original image is covered, that is, all the receptive fields,
so that the original image will not miss the undetected
objects. Since bs (s = 1, 2,…, m) is a random variable, and
the mass and stiffness position parameters are random
variables, therefore, the eigenvalues and eigenvectors of the
vibration transmission path system are both random
variables, which are affected by time and excitation
frequency. Therefore, the Taylor series expansion of the
characteristic equation of the vibration transmission path
system can be derived from the relationship between the
characteristic value of the random parameter system and the
natural frequency of the structure, and the first-order
sensitivity of the natural frequency to the random parameter
can be derived. Accordingly, DS-Harmonizer realizes the
online data complementing through continuous prediction on
data stream. The trade-off of the low latency stream
processing is considered in the limited computation capacity
of edge servers. Common domain experience is adopted to
speed the parameter tuning to avoid the heavy iterations. The
output is the traffic flow of current period as data stream and
would transfer to the service instance in an upper edge
server. Their predictive value of next period is cached for
potential data complementing in the future. It makes a cost-
efficient solution. Gravity dams as critical infrastructure
components play an inestimable role in the economic and
social development of the country for flood prevention,
hydropower generation, water transportation, irrigation, and
water supply. Once the failure of the dams happens, it could
lead to potential loss of life and huge economic losses. The
lack of a comprehensive understanding of the geological
conditions of the foundation has been the main cause of the
failure of gravity dams [1]. Thus, the sliding stability of dam-
foundation systems has been a critical issue in seismic
design, especially for the antisliding stability in the
underlying complex foundation.
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