Objective
Silver–Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long‐term outcomes of GH in patients with ...molecularly confirmed SRS. This study evaluated height, body mass index (BMI) and GH treatment in molecularly confirmed SRS.
Design
An observational study with retrospective data collection.
Patients
Individuals with molecularly confirmed SRS aged ≥13 years.
Measurements
Data were collected on height, height gain (change in height standard deviation score SDS from childhood to final or near‐final height), BMI and gain in BMI (from childhood to adulthood) and previous GH treatment.
Results
Seventy‐one individuals (40 female) were included. The median age was 22.0 years (range 13.2–69.7). The molecular diagnoses: H19/IGF2:IG‐DMR LOM in 80.3% (57/71); upd(7)mat in 16.9% (12/71) and IGF2 mutation in 2.8% (2/71). GH treatment occurred in 77.5% (55/71).
Total height gain was greater in GH‐treated individuals (median 1.53 SDS vs. 0.53 SDS, p = .007), who were shorter at treatment initiation (−3.46 SDS vs. −2.91 SDS, p = .04) but reached comparable heights to GH‐untreated individuals (−2.22 SDS vs. −2.74 SDS, p = .7). In GH‐treated individuals, BMI SDS was lower at the most recent assessment (median −1.10 vs. 1.66, p = .002) with lower BMI gain (2.01 vs. 3.58, p = .006) despite similar early BMI SDS to GH‐untreated individuals (median −2.65 vs. −2.78, p = .3).
Conclusions
These results support the use of GH in SRS for increasing height SDS. GH treatment was associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.
In addition to optimising survival of children with rhabdomyosarcoma (RMS), more attention is now focused on improving their quality of life (QOL) and reducing symptoms during treatment, palliative ...care or into long-term survivorship. QOL and ongoing symptoms related to the disease and its treatment are outcomes that should ideally be patient-reported (patient-reported outcomes, PROs) and can be assessed using patient-reported outcome measures (PROMS). This commentary aims to encourage PRO and PROM use in RMS by informing professionals in the field of available PROMs for utilisation in paediatric RMS and provide considerations for future use in research and clinical practice. Despite the importance of using PROMs in research and practice, PROMs have been reported scarcely in paediatric RMS literature so far. Available literature suggests lower QOL of children with RMS compared to general populations and occurrence of disease-specific symptoms, but a lack of an RMS-specific PROM. Ongoing developments in the field include the development of PROMs targeted at children with RMS specifically and expansion of PROM evaluation within clinical trials.
The Frontline and Relapsed Rhabdomyosarcoma (FaR-RMS) clinical trial is an overarching, multinational study for children and adults with rhabdomyosarcoma (RMS). The trial, developed by the European ...Soft Tissue Sarcoma Study Group (EpSSG), incorporates multiple different research questions within a multistage design with a focus on (i) novel regimens for poor prognostic subgroups, (ii) optimal duration of maintenance chemotherapy, and (iii) optimal use of radiotherapy for local control and widespread metastatic disease. Additional sub-studies focusing on biological risk stratification, use of imaging modalities, including
FFDG PET-CT and diffusion-weighted MRI imaging (DWI) as prognostic markers, and impact of therapy on quality of life are described. This paper forms part of a Special Issue on rhabdomyosarcoma and outlines the study background, rationale for randomisations and sub-studies, design, and plans for utilisation and dissemination of results.
A search for the flavor-changing neutral-current decay B+ →K+$ν\bar{ν}$ is performed at the Belle II experiment at the SuperKEKB asymmetric energy electron-positron collider. The data sample ...corresponds to an integrated luminosity of 63 fb-1 collected at the Υ (4S) resonance and a sample of 9 fb-1 collected at an energy 60 MeV below the resonance. Because the measurable decay signature involves only a single charged kaon, a novel measurement approach is used that exploits not only the properties of the B+ →K+$ν\bar{ν}$ decay, but also the inclusive properties of the other B meson in the Υ(4S) $B\bar{B}$ event, to suppress the background from other B meson decays and light-quark pair production. This inclusive tagging approach offers a higher signal efficiency compared to previous searches. No significant signal is observed. An upper limit on the branching fraction of B+ →K+$ν\bar{ν}$ of 4.1 × 10-5 is set at the 90% confidence level.
Measurement of the Λ c + Lifetime Abudinén, F.; Aggarwal, L.; Aihara, H. ...
Physical review letters,
02/2023, Volume:
130, Issue:
7
Journal Article
Peer reviewed
Open access
An absolute measurement of the $\Lambda^{+}_c$ lifetime is reported using $\Lambda_c^+\rightarrow pK^-\pi^+$ decays in events reconstructed from data collected by the Belle II experiment at the ...SuperKEKB asymmetric-energy electron-positron collider. The total integrated luminosity of the data sample, which was collected at center-of-mass energies at or near the $\Upsilon(4S)$ resonance, is $207.2~\mbox{fb}^{-1}$. The result, $\tau(\Lambda^{+}_c) = 203.20 \pm 0.89 \,\mathrm{(stat)} \pm 0.77 \,\mathrm{(syst)}$ fs, is the most precise measurement to date and is consistent with previous determinations.
We propose a new algorithm for the identification of the production flavor of neutral D mesons in the Belle II experiment. The algorithm exploits the correlation between the flavor of a reconstructed ...neutral D meson (signal D meson) and the electric charges of particles reconstructed in the rest of the e+e–→$c\bar{c}$ event. These include those originating from the decay of the other charm hadron produced in the event, as well as those possibly produced in association with the signal D meson. We develop the algorithm using simulation and calibrate it in data using decay modes that identify the flavor of the decaying neutral D meson. We use a data sample of e+e– collisions, corresponding to 362 fb–1 of integrated luminosity, collected by Belle II at center-of-mass energies near the Υ(4S) mass. The effective tagging efficiency in data is (47.91±0.07 (stat) ±0.51 (syst)) %, independent of the neutral-D-meson decay mode. This charm flavor tagger will approximately double the effective sample size of many CP-violation and charm-mixing measurements that so far have exclusively relied on neutral D mesons originating from D*± decays. While developed for Belle II, the basic principles underlying the charm flavor tagger can be used in other experiments, including those at hadron colliders.
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