838 research outputs found
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.info:eu-repo/semantics/publishedVersio
Effect of coronavirus disease 2019 (COVID‐19) on maternal, perinatal and neonatal outcome: systematic review.
Objective To evaluate the effect of coronavirus disease
2019 (COVID-19) on maternal, perinatal and neonatal
outcome by performing a systematic review of available
published literature on pregnancies affected by
COVID-19.
Methods We performed a systematic review to evaluate
the effect of COVID-19 on pregnancy, perinatal
and neonatal outcome. We conducted a comprehensive
literature search using PubMed, EMBASE, the
Cochrane Library, China National Knowledge Infrastructure
Database and Wan Fang Data up to and
including 20 April 2020 (studies were identified through
PubMed alert after that date). For the search strategy,
combinations of the following keywords and medical
subject heading (MeSH) terms were used: ‘SARS-CoV-2’,
‘COVID-19’, ‘coronavirus disease 2019’, ‘pregnancy’,
‘gestation’, ‘maternal’, ‘mother’, ‘vertical transmission’,
‘maternal–fetal transmission’, ‘intrauterine transmission’,
‘neonate’, ‘infant’ and ‘delivery’. Eligibility criteria
included laboratory-confirmed and/or clinically diagnosed
COVID-19, patient being pregnant on admission and
availability of clinical characteristics, including at least
one maternal, perinatal or neonatal outcome. Exclusion
criteria were non-peer-reviewed or unpublished reports,
unspecified date and location of the study, suspicion of duplicate reporting and unreported maternal or perinatal
outcomes. No language restrictions were applied.
Results We identified a high number of relevant case
reports and case series, but only 24 studies, including
a total of 324 pregnant women with COVID-19,
met the eligibility criteria and were included in the
systematic review. These comprised nine case series
(eight consecutive) and 15 case reports. A total of 20
pregnant patients with laboratory-confirmed COVID-19
were included in the case reports. In the combined data
from the eight consecutive case series, including 211
(71.5%) cases of laboratory-confirmed and 84 (28.5%)
of clinically diagnosed COVID-19, the maternal age
ranged from 20 to 44 years and the gestational age
on admission ranged from 5 to 41weeks. The most
common symptoms at presentation were fever, cough,
dyspnea/shortness of breath, fatigue and myalgia. The
rate of severe pneumonia reported amongst the case series
ranged from 0% to 14%, with the majority of the cases
requiring admission to the intensive care unit. Almost
all cases from the case series had positive computed
tomography chest findings. All six and 22 cases that
had nucleic-acid testing in vaginal mucus and breast
milk samples, respectively, were negative for severe acute
respiratory syndrome coronavirus 2 (SARS-CoV-2). Only
four cases of spontaneous miscarriage or termination were
reported. In the consecutive case series, 219/295 women
had delivered at the time of reporting and 78% of them
had Cesarean section. The gestational age at delivery
ranged from 28 to 41 weeks. Apgar scores at both 1 and
5 min ranged from 7 to 10. Only eight neonates had
birth weight <2500 g and nearly one-third of neonates
were transferred to the neonatal intensive care unit. There
was one case of neonatal asphyxia and death. In 155
neonates that had nucleic-acid testing in throat swab, all,
except three cases, were negative for SARS-CoV-2. There
were no cases of maternal death in the eight consecutive
case series. Seven maternal deaths, four intrauterine fetal
deaths (one with twin pregnancy) and two neonatal deaths
(twin pregnancy) were reported in a non-consecutive case
series of nine cases with severe COVID-19. In the case
reports, two maternal deaths, one neonatal death and two
cases of neonatal SARS-CoV-2 infection were reported.
Conclusions Despite the increasing number of published
studies on COVID-19 in pregnancy, there are insufficient
good-quality data to draw unbiased conclusions with
regard to the severity of the disease or specific
complications of COVID-19 in pregnant women, as
well as vertical transmission, perinatal and neonatal
complications. In order to answer specific questions in
relation to the impact of COVID-19 on pregnant women
and their fetuses, through meaningful good-quality
research, we urge researchers and investigators to
present complete outcome data and reference previously
published cases in their publications, and to record such
reporting when the data of a case are entered into one
or several registries.post-print1026 K
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The Views of Mental Health Manager Towards the Use of a Family Work Model for Psychosis in Guangzhou, China
Family Interventions in Psychosis (FIP) have been promoted internationally but have been criticised for being based on western cultural models. This paper reports on a focus group study with 10 Integrated Mental Health Service Managers in Guangzhou, China using thematic analysis. Managers believed FIP might benefit families but identified potential difficulties due to (a) families avoiding services due to the ‘shame’ of mental illness (b) unrealistic expectations of services amongst families (c) deferral to ‘key decision-makers’ within families when discussing family issues with workers. The findings indicate that FIP work should focus on interaction between carers in the first instance with service users being introduced into sessions at a later date and that more attention needs to be given by the research community to how FIP may be adapted to cultural norms within China
A systematic review of outcomes reported inpediatric perioperative research: A report from the Pediatric Perioperative Outcomes Group
The Pediatric Perioperative Outcomes Group (PPOG) is an international collaborative of clinical investigators and clinicians within the subspecialty of pediatric anesthesiology and perioperative care which aims to use COMET (Core Outcomes Measures in Effectiveness Trials) methodology to develop core outcome sets for infants, children, and young people that are tailored to the priorities of the pediatric surgical population. Focusing on four age‐dependent patient subpopulations determined a priori for core outcome set development: (a) neonates and former preterm infants (up to 60 weeks postmenstrual age); (b) infants (>60 weeks postmenstrual age—1‐13‐<18 years), we conducted a systematic review of outcomes reported in perioperative studies that include participants within age‐dependent pediatric subpopulations. Our review of pediatric perioperative controlled trials published from 2008 to 2018 identified 724 articles reporting 3192 outcome measures. The proportion of published trials and the most frequently reported outcomes varied across predetermined age‐groups. Outcomes related to patient comfort, particularly pain and analgesic requirement, were the most frequent domain for infants, children, and adolescents. Clinical indicators, particularly cardiorespiratory or medication‐related adverse events, were the most common outcomes for neonates and infants <60 weeks and were the second most frequent domain at all other ages. Neonates and infants <60 weeks of age were significantly under‐represented in perioperative trials. Patient‐centered outcomes, healthcare utilization, and bleeding/transfusion‐related outcomes were less often reported. In most studies, outcomes were measured in the immediate perioperative period, with the duration often restricted to the postanesthesia care unit or the first 24 postoperative hours. The outcomes identified with this systematic review will be combined with patient‐centered outcomes identified through a subsequent stakeholder engagement study to arrive at a core outcome set for each age‐specific group
Promising treatment outcomes of intensity-modulated radiation therapy for nasopharyngeal carcinoma patients with N0 disease according to the seventh edition of the AJCC staging system
Electrical Stimulation to Conductive Scaffold Promotes Axonal Regeneration and Remyelination in a Rat Model of Large Nerve Defect
BACKGROUND: Electrical stimulation (ES) has been shown to promote nerve regeneration when it was applied to the proximal nerve stump. However, the possible beneficial effect of establishing a local electrical environment between a large nerve defect on nerve regeneration has not been reported in previous studies. The present study attempted to establish a local electrical environment between a large nerve defect, and examined its effect on nerve regeneration and functional recovery. METHODOLOGY/FINDINGS: In the present study, a conductive scaffold was constructed and used to bridge a 15 mm sciatic nerve defect in rats, and intermittent ES (3 V, 20 Hz) was applied to the conductive scaffold to establish an electrical environment at the site of nerve defect. Nerve regeneration and functional recovery were examined after nerve injury repair and ES. We found that axonal regeneration and remyelination of the regenerated axons were significantly enhanced by ES which was applied to conductive scaffold. In addition, both motor and sensory functional recovery was significantly improved and muscle atrophy was partially reversed by ES localized at the conductive scaffold. Further investigations showed that the expression of S-100, BDNF (brain-derived neurotrophic factor), P0 and Par-3 was significantly up-regulated by ES at the conductive scaffold. CONCLUSIONS/SIGNIFICANCE: Establishing an electrical environment with ES localized at the conductive scaffold is capable of accelerating nerve regeneration and promoting functional recovery in a 15 mm nerve defect in rats. The findings provide new directions for exploring regenerative approaches to achieve better functional recovery in the treatment of large nerve defect
Rgnef (p190RhoGEF) Knockout Inhibits RhoA Activity, Focal Adhesion Establishment, and Cell Motility Downstream of Integrins
Cell migration is a highly regulated process that involves the formation and turnover of cell-matrix contact sites termed focal adhesions. Rho-family GTPases are molecular switches that regulate actin and focal adhesion dynamics in cells. Guanine nucleotide exchange factors (GEFs) activate Rho-family GTPases. Rgnef (p190RhoGEF) is a ubiquitous 190 kDa GEF implicated in the control of colon carcinoma and fibroblast cell motility.Rgnef exon 24 floxed mice (Rgnef(flox)) were created and crossed with cytomegalovirus (CMV)-driven Cre recombinase transgenic mice to inactivate Rgnef expression in all tissues during early development. Heterozygous Rgnef(WT/flox) (Cre+) crosses yielded normal Mendelian ratios at embryonic day 13.5, but Rgnef(flox/flox) (Cre+) mice numbers at 3 weeks of age were significantly less than expected. Rgnef(flox/flox) (Cre+) (Rgnef-/-) embryos and primary mouse embryo fibroblasts (MEFs) were isolated and verified to lack Rgnef protein expression. When compared to wildtype (WT) littermate MEFs, loss of Rgnef significantly inhibited haptotaxis migration, wound closure motility, focal adhesion number, and RhoA GTPase activation after fibronectin-integrin stimulation. In WT MEFs, Rgnef activation occurs within 60 minutes upon fibronectin plating of cells associated with RhoA activation. Rgnef-/- MEF phenotypes were rescued by epitope-tagged Rgnef re-expression.Rgnef-/- MEF phenotypes were due to Rgnef loss and support an essential role for Rgnef in RhoA regulation downstream of integrins in control of cell migration
Performance of CMS muon reconstruction in pp collision events at sqrt(s) = 7 TeV
The performance of muon reconstruction, identification, and triggering in CMS
has been studied using 40 inverse picobarns of data collected in pp collisions
at sqrt(s) = 7 TeV at the LHC in 2010. A few benchmark sets of selection
criteria covering a wide range of physics analysis needs have been examined.
For all considered selections, the efficiency to reconstruct and identify a
muon with a transverse momentum pT larger than a few GeV is above 95% over the
whole region of pseudorapidity covered by the CMS muon system, abs(eta) < 2.4,
while the probability to misidentify a hadron as a muon is well below 1%. The
efficiency to trigger on single muons with pT above a few GeV is higher than
90% over the full eta range, and typically substantially better. The overall
momentum scale is measured to a precision of 0.2% with muons from Z decays. The
transverse momentum resolution varies from 1% to 6% depending on pseudorapidity
for muons with pT below 100 GeV and, using cosmic rays, it is shown to be
better than 10% in the central region up to pT = 1 TeV. Observed distributions
of all quantities are well reproduced by the Monte Carlo simulation.Comment: Replaced with published version. Added journal reference and DO
X-ray emission from the Sombrero galaxy: discrete sources
We present a study of discrete X-ray sources in and around the
bulge-dominated, massive Sa galaxy, Sombrero (M104), based on new and archival
Chandra observations with a total exposure of ~200 ks. With a detection limit
of L_X = 1E37 erg/s and a field of view covering a galactocentric radius of ~30
kpc (11.5 arcminute), 383 sources are detected. Cross-correlation with Spitler
et al.'s catalogue of Sombrero globular clusters (GCs) identified from HST/ACS
observations reveals 41 X-rays sources in GCs, presumably low-mass X-ray
binaries (LMXBs). We quantify the differential luminosity functions (LFs) for
both the detected GC and field LMXBs, whose power-low indices (~1.1 for the
GC-LF and ~1.6 for field-LF) are consistent with previous studies for
elliptical galaxies. With precise sky positions of the GCs without a detected
X-ray source, we further quantify, through a fluctuation analysis, the GC LF at
fainter luminosities down to 1E35 erg/s. The derived index rules out a
faint-end slope flatter than 1.1 at a 2 sigma significance, contrary to recent
findings in several elliptical galaxies and the bulge of M31. On the other
hand, the 2-6 keV unresolved emission places a tight constraint on the field
LF, implying a flattened index of ~1.0 below 1E37 erg/s. We also detect 101
sources in the halo of Sombrero. The presence of these sources cannot be
interpreted as galactic LMXBs whose spatial distribution empirically follows
the starlight. Their number is also higher than the expected number of cosmic
AGNs (52+/-11 [1 sigma]) whose surface density is constrained by deep X-ray
surveys. We suggest that either the cosmic X-ray background is unusually high
in the direction of Sombrero, or a distinct population of X-ray sources is
present in the halo of Sombrero.Comment: 11 figures, 5 tables, ApJ in pres
Jet energy measurement with the ATLAS detector in proton-proton collisions at root s=7 TeV
The jet energy scale and its systematic uncertainty are determined for jets measured with the ATLAS detector at the LHC in proton-proton collision data at a centre-of-mass energy of √s = 7TeV corresponding to an integrated luminosity of 38 pb-1. Jets are reconstructed with the anti-kt algorithm with distance parameters R=0. 4 or R=0. 6. Jet energy and angle corrections are determined from Monte Carlo simulations to calibrate jets with transverse momenta pT≥20 GeV and pseudorapidities {pipe}η{pipe}<4. 5. The jet energy systematic uncertainty is estimated using the single isolated hadron response measured in situ and in test-beams, exploiting the transverse momentum balance between central and forward jets in events with dijet topologies and studying systematic variations in Monte Carlo simulations. The jet energy uncertainty is less than 2. 5 % in the central calorimeter region ({pipe}η{pipe}<0. 8) for jets with 60≤pT<800 GeV, and is maximally 14 % for pT<30 GeV in the most forward region 3. 2≤{pipe}η{pipe}<4. 5. The jet energy is validated for jet transverse momenta up to 1 TeV to the level of a few percent using several in situ techniques by comparing a well-known reference such as the recoiling photon pT, the sum of the transverse momenta of tracks associated to the jet, or a system of low-pT jets recoiling against a high-pT jet. More sophisticated jet calibration schemes are presented based on calorimeter cell energy density weighting or hadronic properties of jets, aiming for an improved jet energy resolution and a reduced flavour dependence of the jet response. The systematic uncertainty of the jet energy determined from a combination of in situ techniques is consistent with the one derived from single hadron response measurements over a wide kinematic range. The nominal corrections and uncertainties are derived for isolated jets in an inclusive sample of high-pT jets. Special cases such as event topologies with close-by jets, or selections of samples with an enhanced content of jets originating from light quarks, heavy quarks or gluons are also discussed and the corresponding uncertainties are determined. © 2013 CERN for the benefit of the ATLAS collaboration
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