Four-lepton production in proton-proton collisions,
p
p
→
(
Z
/
γ
∗
)
(
Z
/
γ
∗
)
→
4
ℓ
, where
ℓ
=
e
or
μ
, is studied at a center-of-mass energy of 13
TeV
with the CMS detector at the LHC. The data ...sample corresponds to an integrated luminosity of 35.9
fb
-
1
. The ZZ production cross section,
σ
(
p
p
→
Z
Z
)
=
17.2
±
0.5
(stat)
±
0.7
(syst)
±
0.4
(theo)
±
0.4
(lumi) pb
, measured using events with two opposite-sign, same-flavor lepton pairs produced in the mass region
60
<
m
ℓ
+
ℓ
-
<
120
GeV
, is consistent with standard model predictions. Differential cross sections are measured and are well described by the theoretical predictions. The Z boson branching fraction to four leptons is measured to be
B
(
Z
→
4
ℓ
)
=
4
.
83
-
0.22
+
0.23
(
s
t
a
t
)
-
0.29
+
0.32
(
s
y
s
t
)
±
0.08
(
t
h
e
o
)
±
0.12
(
l
u
m
i
)
×
10
-
6
for events with a four-lepton invariant mass in the range
80
<
m
4
ℓ
<
100
GeV
and a dilepton mass
m
ℓ
ℓ
>
4
GeV
for all opposite-sign, same-flavor lepton pairs. The results agree with standard model predictions. The invariant mass distribution of the four-lepton system is used to set limits on anomalous ZZZ and ZZ
γ
couplings at 95% confidence level:
-
0.0012
<
f
4
Z
<
0.0010
,
-
0.0010
<
f
5
Z
<
0.0013
,
-
0.0012
<
f
4
γ
<
0.0013
,
-
0.0012
<
f
5
γ
<
0.0013
.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
A search is presented for supersymmetry in all-hadronic events with missing transverse momentum and tagged top quarks. The data sample was collected with the CMS detector at the LHC and corresponds ...to an integrated luminosity of 2.3 fb−1 of proton-proton collisions at a center-of-mass energy of 13 TeV. Search regions are defined using the properties of reconstructed jets, the multiplicity of bottom and top quark candidates, and an imbalance in transverse momentum. With no statistically significant excess of events observed beyond the expected contributions from the standard model, we set exclusion limits at 95% confidence level on the masses of new particles in the context of simplified models of direct and gluino-mediated top squark production. For direct top squark production with decays to a top quark and a neutralino, top squark masses up to 740 GeV and neutralino masses up to 240 GeV are excluded. Gluino masses up to 1550 GeV and neutralino masses up to 900 GeV are excluded for a gluino-mediated production case, where each of the pair-produced gluinos decays to a top-antitop quark pair and a neutralino.
The aim of this study was to present and discuss the anatomical basis of internal hernias thanks to our clinical experience of 14 cases. Internal hernias are uncommon cases of acute intestinal ...obstruction when a viscera protrudes through an intraperitoneal orifice, remaining inside the peritoneal cavity. It excludes iatrogenic post surgical hernias. From an anatomical point of view, three kinds of orifices may be interested. The orifice may be normal: epiploic or omental (Winslow's) foramen, or abnormal through a pathologic transomental hole realizing an internal prolapsus or procidentia, without sac. Or this orifice may be a paranormal peritoneal fossa (para duodenal or retrocaecal) acting as a trap for the bowel: these hernias possess a sac and are considered as true hernias. The clinical diagnosis is always difficult. CT scan can be useful confirming the obstruction and leads to an urgent operation. This retrospective study evaluates diagnosis, management and follow-up according to the type of anatomical orifice and delay of surgery.
X‐linked mental retardation (XLMR) is a very heterogeneous condition, subdivided in two categories mainly based on clinical features: syndromic XLMR (MRXS) and non‐syndromic XLMR (MRX). Although it ...was thought that 20–25% of mental retardation (MR) in males was caused by monogenetic X‐linked factors, recent estimations are lower: in the range of 10–12%. The number of identified genes involved in XLMR has been rapidly growing in the past years. Subsequently, an increasing number of patients and families have been reported in which mutations in XLMR genes have been identified. It was observed previously, that mutations in several of XLMR genes can result in syndromic and in non‐syndromic phenotypes. This observation has been confirmed for the more recently identified genes. Therefore, in this review, focus has been given on the clinical data and on phenotype‐genotype correlations for those genes implicated in both non‐syndromic and syndromic XLMR.
We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the ...distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. We highlight the different features present in our patient and describe the etiology of the Freeman–Sheldon phenotype and how its clinical complications can be dealt with. To the best of our knowledge, this is the first molecularly confirmed case of Freeman–Sheldon syndrome in sub-Saharan Africa.
Background. Cutaneous leishmaniasis (CL) is a disfiguring but not life-threatening disease. Because antileishmanial drugs are potentially toxic, the World Health Organization (WHO) recommends simple ...wound care or local therapy as first-line treatment, followed or replaced by systemic therapy if local therapy fails or cannot be performed. Methods. To determine the feasibility and impact of the recommended approach, we analyzed the results of a centralized referral treatment program in 135 patients with parasitologically proven CL. Results. Infections involved 10 Leishmania species and were contracted in 29 different countries. Eighty-four of 135 patients (62%) were initially treated without systemic therapy. Of 109 patients with evaluable charts, 23 of 25 (92%) treated with simple wound care and 37 of 47 (79%) treated with local antileishmanial therapy were cured by days 42–60. In 37 patients with large or complex lesions, or preexisting morbidities, or who had not been cured with local therapy, the cure rate with systemic antileishmanial agents was 60%. Systemic adverse events were observed in 15 patients, all receiving systemic therapy. Conclusions. In this population of CL patients displaying variable degrees of complexity and severity, almost two-thirds of patients could be initially managed without systemic therapy. Of these, 60 were cured before day 60. The WHO-recommended stepwise approach favoring initial local therapy therefore resulted in at least 44% of all patients being cured without exposure to the risk of systemic adverse events. Efforts are needed to further simplify local therapy of CL and to improve the management of patients with complex lesions and/or preexisting comorbidities.
The production cross section of a W boson in association with two b jets is measured using a sample of proton–proton collisions at
s
=
8
TeV
collected by the CMS experiment at the CERN LHC. The data ...sample corresponds to an integrated luminosity of 19.8
fb
-1
. The W bosons are reconstructed via their leptonic decays,
W
→
ℓ
ν
, where
ℓ
=
μ
or
e
. The fiducial region studied contains exactly one lepton with transverse momentum
p
T
ℓ
>
30
GeV
and pseudorapidity
|
η
ℓ
|
<
2.1
, with exactly two b jets with
p
T
>
25
GeV
and
|
η
|
<
2.4
and no other jets with
p
T
>
25
GeV
and
|
η
|
<
4.7
. The cross section is measured to be
σ
(
p
p
→
W
(
ℓ
ν
)
+
b
b
¯
)
=
0.64
±
0.03
(
stat
)
±
0.10
(
syst
)
±
0.06
(
theo
)
±
0.02
(
lumi
)
pb
, in agreement with standard model predictions.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Fragile X‐associated disorders caused by the premutation of the FMR1 gene, includes the fragile X‐associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the ...age of 50 and 75% over the age of 80. FMR1 molecular analysis was done using PCR and confirmed by Southern Blot. Three premutation males were diagnosed FXTAS using quantification based on the standard neurological examination. Cognitive impairment was assessed using Raven and WAIS‐R test. MRI was done to identify the middle cerebellar peduncle (MCP) sign, white matter disease and/or cerebral atrophy. Three cases of FXTAS are identified, of five individuals older than 50 years in one family tree two met criteria for definite FXTAS and the third with sub‐clinical symptoms, although cognitive and radiological criteria are met. These cases are the first identified FXTAS cases in rural Indonesia. In addition with lack of routine medical follow‐up, complications of FXTAS, such as hypertension may go unrecognized and untreated, which may further exacerbate the central nervous system (CNS) findings of FXTAS.
Background: Angelman- and Rett-like syndromes share a range of clinical characteristics, including intellectual disability (ID) with or without regression, epilepsy, infantile encephalopathy, ...postnatal microcephaly, features of autism spectrum disorder, and variable other neurological symptoms. The phenotypic spectrum generally has been well studied in children; however, evolution of the phenotypic spectrum into adulthood has been documented less extensively. To obtain more insight into natural course and prognosis of these syndromes with respect to developmental, medical, and socio-behavioral outcomes, we studied the phenotypes of 9 adult patients who were recently diagnosed with 6 different Angelman- and Rett-like syndromes. Methods: All these patients were ascertained during an ongoing cohort study involving a systematic clinical genetic diagnostic evaluation of over 250, mainly adult patients with ID of unknown etiology. Results: We describe the evolution of the phenotype in adults with EHMT1, TCF4, MECP2, CDKL5, and SCN1A mutations and 22qter deletions and also provide an overview of previously published adult cases with similar diagnoses. Conclusion: These data are highly valuable in adequate management and follow-up of patients with Angelman- and Rett-like syndromes and accurate counseling of their family members. Furthermore, they will contribute to recognition of these syndromes in previously undiagnosed adult patients.
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