Heterozygous pathogenic and likely pathogenic sequence variants in the
(Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction ...and an increased risk of developing myelodysplasia and acute myeloid leukemia. The majority of causative variants are substitutions, which rarely occur de novo. The aim of this case report is to present a patient with congenital thrombocytopenia caused by a deletion variant in exon 9 in the
gene.
A one-month-old male infant was admitted to the Clinical Hospital Center Rijeka because of anemia and thrombocytopenia verified in the course of an acute viral infection. During follow-up, he occasionally had petechiae and ecchymoses on the lower extremities after mild trauma, with no other symptoms. The patient had persistent slightly decreased values of platelets with normal morphology, but with pathological aggregation with adrenaline and adenosine diphosphate. Due to the unclear etiology of persistent mild thrombocytopenia, he was referred for genetic testing at the age of five. Genomic DNA was isolated from the patient's peripheral blood and whole-exome sequencing was performed using the next-generation sequencing method. A heterozygous frameshift variant, c.1160delG (NM_001754.4), was identified in exon 9. The variant is classified as likely pathogenic.
To the best of our knowledge, the heterozygous variant c.1160delG in the
gene was first described in our patient. Although pathogenic variants in the
genes are very rare, persistently low platelet counts of unclear etiology should raise suspicion of an underlying genetic disorder.
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IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, UL, UM, UPUK
Due to the highly complex and informal data that has to be managed in the conceptual design this early design phase still lacks of suitable computer support. Furthermore, existing approaches towards ...a computer aided conceptual design are insufficiently integrated with the downstream applications of the product development process. The paper therefore introduces an approach towards a feature-based integrated product model that incorporates a feature-based representation scheme for capturing product semantics handled in the conceptual design phase and links early design with part and assembly modelling.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
A
bstract
We present measurements of the branching fractions for the decays
B
→
Kμ
+
μ
−
and
B
→
Ke
+
e
−
, and their ratio (
R
K
), using a data sample of 711 fb
−
1
that contains 772 × 10
6
B
B
¯
...events. The data were collected at the ϒ(4
S
) resonance with the Belle detector at the KEKB asymmetric-energy
e
+
e
−
collider. The ratio
R
K
is measured in five bins of dilepton invariant-mass-squared (
q
2
):
q
2
∈ (0
.
1
,
4
.
0)
,
(4
.
00
,
8
.
12)
,
(1
.
0
,
6
.
0), (10
.
2
,
12
.
8) and (
>
14
.
18) GeV
2
/c
4
, along with the whole
q
2
region. The
R
K
value for
q
2
∈ (1
.
0
,
6
.
0) GeV
2
/c
4
is
1.03
−
0.24
+
0.28
± 0
.
01. The first and second uncertainties listed are statistical and systematic, respectively. All results for
R
K
are consistent with Standard Model predictions. We also measure
CP
-averaged isospin asymmetries in the same
q
2
bins. The results are consistent with a null asymmetry, with the largest difference of 2.6 standard deviations occurring for the
q
2
∈ (1
.
0
,
6
.
0) GeV
2
/c
4
bin in the mode with muon final states. The measured differential branching fractions,
d
ℬ
/dq
2
, are consistent with theoretical predictions for charged
B
decays, while the corresponding values are below the expectations for neutral
B
decays. We have also searched for lepton-flavor-violating
B
→
Kμ
±
e
∓
decays and set 90% confidence-level upper limits on the branching fraction in the range of 10
−
8
for
B
+
→
K
+
μ
±
e
∓
, and
B
0
→
K
0
μ
±
e
∓
modes.
Times of conflict produce a dizzying array of images of suffering. As conflict unfolds, photojournalists often scramble to capture the image that "perfectly" represents the human rights violations ...that are occurring on the ground. In turn, human rights advocates and organizations often utilize these images during the aftermath as a means of drawing global attention to a particular issue. From a surface perspective, it seems as though the advantages of representation through image are bountiful: Images generate publicity, images help people relate to a cause, images mobilize funds, etc. However, beneath the surface, there lie deep-seated and diverse ethical questions: Do photojournalists, as nonactive voyeurs, become a contributing factor to the suffering of the subject? Is the ethical course of action by the photographer sacrificed in the name of art? Moreover, at what point does the pursuit of the "perfect" image override one's ability to see the event as a human occurrence? There cannot be conclusive categorizations of these moments where photography straddles the border between art and morality, so this article does not aim to establish any. However, in the process of exploring questions such as these, it seeks to expose the ways that images of suffering can be used in both positive and negative ways in human rights advocacy work. Although such work has the best intentions, the circulation of these images through the public sphere complicates the status and meaning of the images, thereby leading us to the question: How can the witnessed suffering of one individual even begin to represent and redeem the unviewed suffering of countless others?
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BFBNIB, DOBA, IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
A
bstract
We report a new measurement of the
e
+
e
−
→
ϒ(
nS
)
π
+
π
−
(
n
= 1
,
2
,
3) cross sections at energies from 10
.
52 to 11
.
02 GeV using data collected with the Belle detector at the KEKB ...asymmetric-energy
e
+
e
−
collider. We observe a new structure in the energy dependence of the cross sections; if described by a Breit-Wigner function its mass and width are found to be
M
=
10752.7
±
5.9
−
1.1
+
0.7
MeV
/
c
2
and
Γ
=
35.5
−
11.3
−
3.3
+
17.6
+
3.9
MeV, where the first error is statistical and the second is systematic. The global significance of the new structure including systematic uncertainty is 5.2 standard deviations. We also find evidence for the
e
+
e
−
→
ϒ (1
S
)
π
+
π
−
process at the energy 10
.
52 GeV, which is below the
B
B
¯
threshold.
Physics achievements from the Belle experiment Brodzicka, J.; Browder, T.; Chang, P. ...
Progress of theoretical and experimental physics,
12/2012, Volume:
2012, Issue:
1
Journal Article
(ProQuest: ... denotes formulae and/or non-USASCII text omitted) We report results of a study of doubly charmed baryons and charmed strange baryons. The analysis is performed using a 980 fb super(-1) ...data sample collected with the Belle detector at the KEKB asymmetric-energy e super(+)e super(-) collider. We search for doubly charmed baryons ... with the ... and ... final states. No significant signal is observed. We also search for two excited charmed strange baryons, Xi sub(c)(3055) super(+) and Xi sub(c)(3123) super(+) with the ... and ... final states. The Xi sub(c)(3055) super(+) signal is observed with a significance of 6.6 standard deviations including systematic uncertainty, while no signature of the Xi sub(c)(3123) super(+) is seen. We also study properties of the Xi sub(c)(2645) super(+) and measure a width of 2.6 + or - 0.2(stat) + or - 0.4(syst) MeV /c super(2), which is the first significant determination.
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CMK, CTK, FMFMET, IJS, NUK, PNG, UM
The dark photon A^{'} and the dark Higgs boson h^{'} are hypothetical constituents featured in a number of recently proposed dark sector models. Assuming prompt decays of both dark particles, we ...search for their production in the so-called Higgstrahlung channel e^{+}e^{-}→A^{'}h^{'}, with h^{'}→A^{'}A^{'}. We investigate ten exclusive final states with A^{'}→e^{+}e^{-}, μ^{+}μ^{-}, or π^{+}π^{-} in the mass ranges 0.1 GeV/c^{2} <m_{A^{'}}<3.5 GeV/c^{2} and 0.2 GeV/c^{2} <m_{h^{'}}<10.5 GeV/c^{2}. We also investigate three inclusive final states 2(e^{+}e^{-})X, 2(μ^{+}μ^{-})X, and (e^{+}e^{-})(μ^{+}μ^{-})X, where X denotes a dark photon candidate detected via missing mass, in the mass ranges 1.1 GeV/c^{2} <m_{A^{'}}<3.5 GeV/c^{2} and 2.2 GeV/c^{2} <m_{h^{'}}<10.5 GeV/c^{2}. Using the entire 977 fb^{-1} data set collected by Belle, we observe no significant signal. We obtain individual and combined 90% credibility level upper limits on the branching fraction times the Born cross section, B×σ_{Born}, on the Born cross section σ_{Born}, and on the dark photon coupling to the dark Higgs boson times the kinetic mixing between the standard model photon and the dark photon, α_{D}×ε^{2}. These limits improve upon and cover wider mass ranges than previous experiments. The limits from the final states 3(π^{+}π^{-}) and 2(e^{+}e^{-})X are the first placed by any experiment. For α_{D} equal to 1/137, m_{h^{'}}< 8 GeV/c^{2}, and m_{A^{'}}<1 GeV/c^{2}, we exclude values of the mixing parameter ε above ∼8×10^{-4}.
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CMK, CTK, FMFMET, IJS, NUK, PNG, UM
Abstract We present a measurement of the Cabibbo-Kobayashi-Maskawa unitarity triangle angle ϕ 3 (also known as γ) using a model-independent Dalitz plot analysis of B + → D ( K S 0 $$ {K}_S^0 $$ h + h ...− )h +, where D is either a D 0 or D ¯ $$ \overline{D} $$ 0 meson and h is either a π or K. This is the first measurement that simultaneously uses Belle and Belle II data, combining samples corresponding to integrated luminosities of 711 fb −1 and 128 fb −1, respectively. All data were accumulated from energy-asymmetric e + e − collisions at a centre-of-mass energy corresponding to the mass of the Υ(4S) resonance. We measure ϕ 3 = (78.4 ± 11.4 ± 0.5 ± 1.0)°, where the first uncertainty is statistical, the second is the experimental systematic uncertainty and the third is from the uncertainties on external measurements of the D-decay strong-phase parameters.
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