bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
Authors: Thomas Hortense , Alix Tom , Renard Émeline , Renaud Mathilde , Wourms Justine , Zuily Stéphane , Leheup Bruno , Geneviève David , Dreumont Natacha , Schmitt Emmanuelle , Bronner Myriam , Muller Marc , Divoux Marion , Wandzel Marion , Ravel Jean-Marie , Dexheimer Mylène , Becker Aurélie , Roth Virginie , Willems Marjolaine , Coubes Christine , Vieville Gaëlle , Devillard Françoise , Schaefer Élise , Baer Sarah , Piton Amélie , Gérard Bénédicte , Vincent Marie , Nizon Mathilde , Cogné Benjamin , Ruaud Lyse , Couque Nathalie , Putoux Audrey , Edery Patrick , Lesca Gaëtan , Chatron Nicolas , Till Marianne , Faivre Laurence , Tran-Mau-Them Frédéric , Alessandri Jean-Luc , Lebrun Marine , Quélin Chloé , Odent Sylvie , Dubourg Christèle , David Véronique , Faoucher Marie , Mignot Cyril , Keren Boris , Pisan Élise , Afenjar Alexandra , Julia Sophie , Bieth Éric , Banneau Guillaume , Goldenberg Alice , Husson Thomas , Campion Dominique , Lecoquierre François , Nicolas Gaël , Charbonnier Camille , De Saint Martin Anne , Naudion Sophie , Degoutin Manon , Rondeau Sophie , Michot Caroline , Cormier-Daire Valérie , Oussalah Abderrahim , Pourié Carine , Lambert Laëtitia , Bonnet Céline 
Published: June 2024

BackgroundTatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha (DNMT3A)-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual disability and distinctive facial features and is the consequence of germline loss-of-function variants inDNMT3A, which encodes a DNA methyltransferase involved in epigenetic regulation. Somatic variants ofDNMT3Aare frequently observed in haematological malignancies, including acute myeloid leukaemia (AML). To date, 100 individuals with TBRS with de novo germline variants have been described. We aimed to further characterise this disorder clinically and at the molecular level in a nationwide series of 24 French patients and to investigate the correlation between the severity of intellectual disability and the type of variant.MethodsWe collected genetic and medical information from 24 individuals with TBRS using a questionnaire released through the French National AnDDI-Rares Network.ResultsHere, we describe the first nationwide French cohort of 24 individuals with germline likely pathogenic/pathogenic variants inDNMT3A, including 17 novel variants. We confirmed that the main phenotypic features were intellectual disability (100% of individuals), distinctive facial features (96%) and overgrowth (87%). We highlighted novel clinical features, such as hypertrichosis, and further described the neurological features and EEG results.ConclusionThis study of a nationwide cohort of individuals with TBRS confirms previously published data and provides additional information and clarifies clinical features to facilitate diagnosis and improve care. This study adds value to the growing body of knowledge on TBRS and broadens its clinical and molecular spectrum.
Thrombectomy versus combined thrombolysis for acute basilar artery occlusion: a secondary analysis of the ATTENTION trial
Authors: Han Bin , ‐ Raynald , Wu Yaxin , Feng Ganghua , Liu Xuehan , Zhang Peng , Lu Pengyu , Liu Yi , Hu Wei , Sun Yaxuan 
Published: June 2024

BackgroundFew studies have compared the outcomes of bridging intravenous thrombolysis (IVT) before mechanical thrombectomy (MT) with those of direct MT in patients with acute basilar artery occlusion (BAO). This study aimed to assess the efficacy and safety of direct endovascular treatment (EVT) and bridging IVT followed by EVT in Chinese patients with acute basilar artery occlusion BAO.MethodsThis subanalysis derived from the prospective multicenter randomized controlled trial of the ATTENTION study, included 221 patients with acute BAO categorized into two groups based on whether they received bridging IVT before MT: MT alone or combined IVT+MT. The primary endpoint was the modified Rankin Scale (mRS) score distribution at 90 days. Secondary outcomes included mRS scores within different ranges (0–1, 0–2, and 0–3) at the 90-day point and National Institutes of Health Stroke Scale (NIHSS) scores at 24 hours and 3 days post-intervention. Safety outcomes encompassed intracranial hemorrhage incidence based on the Heidelberg classification criteria (any intracerebral hemorrhage) and mortality assessment at 90 days.ResultsDirect and bridging IVT before EVT yielded similar primary outcomes. No significant difference in 90-day mRS scores (median, 4.5 vs 4; adjusted odds ratio (aOR), 0.95 [95% confidence interval (CI), 0.79 to 1.15]; p=0.624) was observed between the two groups. Regarding safety outcomes, no significant differences were observed between the groups in terms of death within 90 days or any intracranial hemorrhage within 24 hours.ConclusionsIn patients with acute BAO, those treated with bridging IVT before EVT did not demonstrate any advantages in enhanced safety and efficacy outcomes compared with those treated with direct EVT.
Safety of acute internal carotid artery stenting during endovascular thrombectomy in patients with acute ischemic stroke: a retrospective analysis of the OPTIMISE registry
Authors: Mendes George Nilton , Jacquin Grégory , Katsanos Aristeidis H , Singh Nishita , Stotts Grant , Ferguson Darren B , Yip Samuel , Poppe Alexandre Y 
Published: June 2024

BackgroundThe optimal management of tandem carotid lesions during endovascular thrombectomy (EVT) remains uncertain. The safety and efficacy of acute carotid artery stenting (aCAS) are debated, including safety concerns such as procedural complications and symptomatic intracerebral hemorrhage (sICH). We aimed to assess aCAS safety among EVT-treated patients using a large Canadian registry.MethodsWe retrospectively analyzed the OPTIMISE registry and compared adult patients undergoing EVT and aCAS versus EVT only. The primary outcome was a composite of in-hospital death, long-term care facility destination at discharge, sICH, or any EVT-related procedural complications. Secondary outcomes included individual components of the primary outcome, EVT workflow times, final modified Thrombolysis in Cerebral Ischemia score and 90-day modified Rankin Scale score. Statistical significance was evaluated by a multivariate logistic regression model.Results4205 patients were included (330 with EVT-aCAS and 3875 with EVT-only). Both groups were similar with regard to baseline National Institutes of Health Stroke Scale score, Alberta Stroke Program Early CT Score and use of IV thrombolysis, but differed in age (EVT-aCAS group 67.2±12.1 years vs EVT-only group 71.3±14.1 years, P<0.001), proportion of women (28.2% vs 53.3%, P<0.001), and occlusion location (internal carotid artery terminus 44% vs 16%, P<0.001). The EVT-aCAS group showed a non-significant increase in odds of composite safety outcomes (adjusted OR 1.35 (95% CI 0.97 to 1.84), P=0.06) with a significantly higher proportion of procedural complications (10.0% vs 6.2%, P=0.002).ConclusionIn a large national registry, EVT-aCAS was associated with a higher proportion of unfavorable safety outcomes, driven by more frequent procedural complications. Further research is needed to clarify the role of aCAS in tandem occlusion stroke.
Embedding a novel screening programme for sexually transmitted infections (chlamydia and gonorrhoea) within an ambulatory emergency surgical assessment unit: an observational cohort study
Authors: Ganesh Divolka , Mahon Ciara , Jones Sian , Please Helen , Hughes Michael , Peckham-Cooper Adam 
Published: June 2024

BackgroundA number of females with pelvic inflammatory disease will present to general surgical services with non-specific abdominal pain. Screening for sexually transmitted infections (STI) as an underlying cause is not routinely offered. We therefore established an STI screening programme for young females presenting to a same day emergency ambulatory surgical clinic as part of the diagnostic pathway. Data outlining the incidence and prevalence of STIs as the underlying cause of lower abdominal pain were collected.MethodsWe conducted an observational cohort study. Self-collected vulvovaginal swabs for chlamydia and gonorrhoea were offered as part of a standardised diagnostic pathway for all females meeting inclusion criteria presenting with abdominal pain. Positive results were referred to our local sexual health team for treatment and contact tracing.ResultsThe cohort comprised 297 eligible patients; 259 participated, 20 patients declined testing and 18 samples were rejected as inadequate in the laboratory. 5.4% of swab results were positive (2 gonorrhoea and 12 chlamydia). All patients with positive swabs had presented with lower abdominal pain and of these only 21% had a documented sexual history.ConclusionUndiagnosed STIs are prevalent, with significant fertility and public health risks. Young females seeking medical assessment for abdominal pain provide an opportunistic screening cohort with a likely subset of patients presenting with abdominal pain as a direct result of an STI. Our results demonstrate a high incidence of positive tests, suggesting further training of surgeons to include a sexual history in assessment of females with abdominal pain is vital.
Artificial intelligence for better goals of care documentation
Authors: Piscitello Gina , Schell Jane O , Arnold Robert M , Schenker Yael 
Published: June 2024

ObjectivesLower rates of goals of care (GOC) conversations have been observed in non-white hospitalised patients, which may contribute to racial disparities in end-of-life care. We aimed to assess how a targeted initiative to increase GOC documentation rates is associated with GOC documentation by race.MethodsWe retrospectively assessed GOC documentation during a targeted GOC initiative for adult patients with an artificial intelligence predicted elevated risk of mortality. Patients were admitted to an urban academic medical centre in Pittsburgh, Pennsylvania between July 2021 and 31 December 2022.ResultsThe 3643 studied patients had a median age of 72 (SD 13.0) and were predominantly white (87%) with 42% admitted to an intensive care unit and 15% dying during admission. GOC documentation was completed for 28% (n=1019/3643). By race, GOC was documented for 30% black (n=105/351), 28% white (n=883/3161) and 24% other (n=31/131) patients (p=0.3933). There was no statistical difference in the rate of documented GOC among races over time (p=0.5142).ConclusionsA targeted initiative to increase documented GOC conversations for hospitalised patients with an elevated risk of mortality is associated with similar documentation rates across racial groups. Further research is needed to assess whether this initiative may promote racial equity in GOC documentation in other settings.
Sleep-disordered breathing in children and adults with intellectual disability: mind the gap!
Authors: Riha Renata L , Singh Ankur , Hill Elizabeth A , Evans Hazel , O'Regan David 
Published: June 2024

Background
In adults and children with intellectual disability (ID), sleep -disordered breathing (SDB) is thought to be common. However, large epidemiological studies are lacking, and there are few studies on optimal methods of investigation and even fewer randomised, controlled intervention trials of treatment.

Method
Peer-reviewed publications from various databases were examined in line with search terms relevant to ID and SDB spanning the years 200-2024.

Results
Findings suggest that, due to comorbid conditions, children and adults with ID may experience both an increased risk of SDB, as well as lower frequency of diagnosis. SDB can compromise the emotional, physical and mental health of individuals with ID. Appropriate treatment when tolerated leads to an improvement in health and well-being and several studies emphasized the importance of consistent follow-up of people with ID - something that is not universally occurring during childhood, in the transition to adulthood and during adulthood itself. As the most frequently occurring form of ID worldwide, we use Down syndrome as a specific example of how diagnosing and treating SDB can lead to improved outcomes.

Conclusions
This review highlights the importance of identifying SDB in this heterogenous population, recognising the multi-faceted, deleterious consequences of untreated SDB in people with ID, and presents some strategies that can be harnessed to improve diagnosis and management. Until further ID-specific research is available, we urge flexibility in the approach to people with ID and SDB based in guidelines and standard practice developed for the typically developing population.
Habitat effects on recruitment, population limitations, and recovery potential in an endangered stream fish
Authors: Gray John C. , Rosenfeld Jordan S. 
Published: June 2024

Elucidating the habitat-related processes driving variation in juvenile recruitment and population fluctuation is crucial for the conservation of freshwater fishes, particularly for species at risk, where recruitment variation increases at small population size. We used a combination of instream enclosure experiments and habitat use observations to investigate between-stream variation in recruitment of juvenile Nooksack Dace ( Rhinichthys cataractae sp. cataractae), a federally endangered stream-dwelling minnow endemic to the lower Fraser Valley of British Columbia, Canada. There was no evidence for a recruitment bottleneck associated with high water temperature or low dissolved oxygen in spawning riffles at the egg incubation stage, or during a two week juvenile growth experiment in enclosures, although larval dace growth was positively related to temperature. However, immediately post-hatch dace showed a very strong preference for shallow (<5 cm deep), fine substrate marginal shoal habitat with no overhanging or instream vegetation cover, which was associated with well-developed pool-riffle channel structure. Shallow marginal rearing habitat was absent in the stream experiencing recruitment failure, where encroachment by invasive reed canarygrass ( Phalaris arundinacea) created homogenous steep-bank habitat with heavy instream vegetation cover, implicating loss of critical marginal rearing habitat as the recruitment bottleneck.
Clinical Validation of Carotid-Femoral Pulse Wave Velocity Measurement Using a Multi-Beam Laser Vibrometer: The CARDIS Study
Authors: Badhwar Smriti , Marais Louise , Khettab Hakim , Poli Federica , Li Yanlu , Segers Patrick , Aasmul Soren , de Melis Mirko , Baets Roel , Greenwald Steve , Bruno Rosa Maria , Boutouyrie Pierre 
Published: June 2024

BACKGROUND:
Carotid-femoral pulse wave velocity (cfPWV) is the gold standard for noninvasive arterial stiffness assessment, an independent predictor of cardiovascular disease, and a potential parameter to guide therapy. However, cfPWV is not routinely measured in clinical practice due to the unavailability of a low-cost, operator-friendly, and independent device. The current study validated a novel laser Doppler vibrometry (LDV)-based measurement of cfPWV against the reference technique.

METHODS:
In 100 (50 men) hypertensive patients, cfPWV was measured using applanation tonometry (Sphygmocor) and the novel LDV device. This device has 2 handpieces with 6 laser beams each that simultaneously measure vibrations from the skin surface at carotid and femoral sites. Pulse wave velocity is calculated using ECG for the identification of cardiac cycles. An ECG-independent method was also devised. Cardiovascular risk score was calculated for patients between 40 and 75 years old using the WHO risk scoring chart.

RESULTS:

LDV-based cfPWV correlated significantly with tonometry (r=0.86,
P
<0.0001 ECG-dependent [cfPWV
LDV_ECG
] and r=0.80,
P
<0.001 ECG-independent [cfPWV
LDV_w/oECG
] methods). Bland-Altman analysis showed nonsignificant bias (0.65 m/s) and acceptable SD (1.27 m/s) between methods. Intraobserver coefficient of variance for LDV was 4.7% (95% CI, 3.0%–5.5%), and interobserver coefficient of variance was 5.87%. CfPWV correlated significantly with CVD risk (r=0.64,
P
<0.001; r=0.41,
P
=0.003; and r=0.37,
P
=0.006 for tonometry, LDV-with, and LDV-without ECG, respectively).

CONCLUSIONS:
The study demonstrates clinical validity of the LDV device. The LDV provides a simple, noninvasive, operator-independent method to measure cfPWV for assessing arterial stiffness, comparable to the standard existing techniques.

REGISTRATION:

URL:
https://clinicaltrials.gov/study/NCT03446430
; Unique identifier: NCT03446430.
Projections of Endovascular Therapy–Eligible Patients With Stroke for the US Population
Authors: Mistry Eva A. , Khoury Jane C. , Kleindorfer Dawn O. , Kissela Brett M. , Alwell Kathleen S. , Jasne Adam S. , Ferioli Simona , De Los Rios La Rosa Felipe , Coleman Elisheva , Demel Stacie L. , Walsh Kyle B. , Slavin Sabreena J. , Star Michael , Haverbusch Mary , Mackey Jason , Woo Daniel , Aziz Yasmin N. , Heldner Mirjam R. , Fischer Urs , Jadhav Ashutosh P. , Jovin Tudor G. , Albers Gregory W. , Nogueira Raul G. , Khatri Pooja 
Published: June 2024

BACKGROUND:
As stroke endovascular thrombectomy (EVT) treatment indications expand, understanding population-based EVT eligibility becomes critical for resource planning. We aimed to project current and future population-based EVT eligibility in the United States.

METHODS:

We conducted a post hoc analysis of the physician-adjudicated GCNKSS (Greater Cincinnati Northern Kentucky Stroke Study; 2015 epoch), a population-based, cross sectional, observational study of stroke incidence, treatment, and outcomes across a 5-county region. All hospitalized patients ≥18 years of age with acute ischemic stroke were ascertained using the
International Classification of Diseases, Ninth Revision
codes 430-436 and
Tenth Revision
codes I60-I67 and G45-G46 and extrapolated to the US adult census 2020. We determined the rate of EVT eligibility within the GCNKSS population using time from last known well to presentation (0–5 versus 5–23 hours), presenting National Institutes of Health Stroke Scale, and prestroke modified Rankin Scale. Both conservative and liberal estimates of prevalence of large vessel occlusion and large core were then applied based on literature review (unavailable within the 2015 GCNKSS). This eligibility was then extrapolated to the 2020 US population.

RESULTS:
Of the 1 057 183 adults within GCNKSS in 2015, 2741 had an ischemic stroke and 2176 had data available for analysis. We calculated that 8659 to 17 219 patients (conservative to liberal) meet the current guideline-recommended EVT criteria (nonlarge core, no prestroke disability, and National Institutes of Health Stroke Scale score ≥6) in the United States. Estimates (conservative to liberal) for expanded EVT eligibility subpopulations include (1) 5316 to 10 635 by large core; (2) 10 635 to 21 270 by mild presenting deficits with low National Institutes of Health Stroke Scale score; (3) 13 572 to 27 089 by higher prestroke disability; and (4) 7039 to 14 180 by >1 criteria. These expanded eligibility subpopulations amount to 36 562 to 73 174 patients.

CONCLUSIONS:
An estimated 8659 to 17 219 adult patients in the United States met strict EVT eligibility criteria in 2020. A 4-fold increase in population-based EVT eligibility can be anticipated with incremental adoption of recent or future positive trials. US stroke systems need to be rapidly optimized to handle all EVT-eligible patients with stroke.
Assessment of the Dynamical Linkages and Flow Evolution Governing Multiple Extreme Weather Events over Western North America in February 2019
Authors: Leicht Tyler C. , Bosart Lance F. 
Published: June 2024

Abstract
We present an extended case study analysis based on observed extreme weather events (EWEs) and the planetary- and synoptic-scale variability of a persistent flow regime spanning the month of February 2019 across the North Pacific (NPAC) basin and western North America. The EWEs are clustered into two periods during February 2019: record cold and kona low conditions over Hawaii, lower elevation snow across Washington, and heavy AR-related rainfall in Southern California from 9 to 15 February; and heavy snow in Arizona and Oregon and heavy rainfall in Northern California from 21 to 28 February. From a weather regime perspective, the NPAC flow was dominated by a persistent ridge around 150°W, a retracted NPAC jet stream, repeated western NPAC (WPAC) cyclogenesis events, and frequent positively tilted troughs in the eastern NPAC and over western North America. Dynamically relevant features on the subseasonal-to-seasonal (S2S) time scale include a slowly propagating MJO signal in phases 6 and 7, a rapid NPAC jet retraction around 9 February, and subsequent eastward extension toward a climatological jet position around 21 February. On synoptic time scales, Rossby wave breaking on the southern flank of the NPAC jet and within the aforementioned persistent ridge led to the kona low formation and many of the positively tilted troughs responsible for the extreme precipitation events. In addition, frequent cyclogenesis west of the date line helped to maintain the persistent ridge strength and location through favorable heat and vorticity fluxes. The chronology and complex linkages between these aforementioned features and mechanisms are explained in depth in this paper.

Significance Statement
This study identified several extreme cold, rain, and snow events across the western contiguous United States and Hawaii, showed how these events are all connected to a persistent weather pattern upstream over the North Pacific basin, and identified key mechanisms for why the weather pattern was so persistent. Some of the physical mechanisms for keeping the weather pattern stagnant include anomalous convection within the tropics off the east coast of Asia, breaking waves in the atmosphere like waves breaking on a beach, and repeated cyclone development off the coast of Russia and Alaska. We hope that the results of this paper encourage others to look for similar mechanisms for similar stagnant weather patterns in a more holistic manner.