bluuebunny/crossref_metadata_2025_split huggingface dataset:
Horizontal gaze palsy with progressive scoliosis syndrome in a paediatric patient
Authors: Tyradellis Straton , Tsokolas Georgios , Pillai Swati 
Published: November 2021

Abstract

Rationale:
Horizontal Gaze Palsy and Progressive Scoliosis syndrome (HGPPS) is a very rare autosomal recessive disorder that has been reported mainly in consanguineous families. Our aim was to describe a rare case of HGPPS in a pediatric patient.

Patient concerns:
A 3-year-old male child was referred to our pediatric ophthalmology clinic because of squint since he was 6 months old. His parents were concerned that both eyes gradually became more esotropic over the past year. In addition, the child was unable to walk independently and was undergoing physiotherapy for mobility issues.

Diagnoses:
Skeletal examination revealed scoliosis. The child was unable to stand without any support. Orthoptic assessment revealed bilateral horizontal gaze palsy with abduction deficit, convergent squint, and pendular nystagmus. Vertical eye movements were preserved. Convergence was also preserved. Magnetic resonance imaging revealed bilateral hypoplastic sixth nerve nuclei with brainstem hypoplasia, the presence of a deep midline pontine cleft, and a butterfly shaped medulla. The child was referred to the genetic clinic, and mutation in the ROBO 3 gene was confirmed. The patient was diagnosed with HGPPS.

Interventions:
The esotropia was corrected with prisms, and no other surgical intervention was attempted due to the child's general poor health.

Outcomes:
To date, the esotropia has remained stable around 35 to 40 diopters, and its control with prism has been adequate. The total follow-up time from the presenting appointment in our clinic until the most recent appointment was approximately two years.

Lessons:
HGPPS is a rare autosomal recessive syndrome characterized by clinical and radiological findings. Our main learning point is that the diagnosis of HGPPS should be included in the differential diagnosis in children who present with combined symptoms of squint and skeletal abnormalities.
Frequent hypotension during hemodialysis in a patient with cutis laxa
Authors: Song Bin , Zeng Yan , Chen Shijing , Huang Kaisen , He Dingxiu , Jiang Yan 
Published: November 2021

Abstract

Rationale:
Cutis laxa is a rare disorder characterized by redundant, loose, and inelastic skin. Its chief histological feature is the reduction of elastic fibers in the dermal layer. Hypotension on dialysis is defined as a decrease in systolic blood pressure of ≥20 mm Hg or a decrease in mean arterial pressure of 10 mm Hg, accompanied by a clinical event requiring therapeutic intervention.

Patient concerns:
A 49-year-old female patient with cutis laxa who had frequent episodes of hypotension during hemodialysis.

Diagnoses:
A skin biopsy revealed changes typical of cutis laxa. Physical examination of the patient revealed systemic skin laxity with a presenile appearance.

Interventions:
We replaced conventional hemodialysis with hemodiafiltration.

Outcomes:
The hypotension improved after the patient started hemodiafiltration.

Lessons:
Cutis laxa may be a risk factor for hypotension during hemodialysis. Hemodiafiltration increases systemic vascular resistance and norepinephrine plasma levels in patients with cutis laxa, thereby stabilizing blood pressure. In a patient with cutis laxa, replacing conventional hemodialysis with hemodiafiltration resulted in an improvement in hypotension.
Paramedic Student Clinical Performance During High-Fidelity Simulation After a Physically Demanding Occupational Task
Authors: MacQuarrie Alex (Sandy) , Hunter Jayden R. , Sheridan Samantha , Hlushak Amanda , Sutton Clare , Wickham James 
Published: November 2021

Introduction
Paramedic duties include assessing, treating, and maneuvering patients in physically challenging environments. Whether clinical skills and patient care are affected by these occupational demands is unknown. High-fidelity simulation affords the opportunity to study this in a controlled setting.

Methods
Using a randomized crossover design, 11 regional paramedicine students and graduates (mean ± SD age = 23 ± 2 years) completed two, 20-minute high-fidelity simulations that included cardiopulmonary resuscitation (CPR) immediately after either an acute bout of occupational physical activity (OPA) or a rest period (REST). Heart rate, respiratory rate, and mean arterial pressure were measured throughout. Clinical performance was scored using the Global Rating Score and a patient care record. Measures of CPR efficacy were recorded in the manikin.

Results
There were no significant differences in Global Rating Score (P = 0.07, ES = 0.03) or CPR efficacy between conditions. Patient care record accuracy was higher after the OPA versus REST simulations (mean ± SD = 61.8 ± 12.6% vs. 55.5 ± 12.0%, P = 0.03, ES = 0.5). Mean heart rate was higher during OPA simulations versus REST simulations (121 ± 14 vs. 84 ± 9 beats per minute, P < 0.01, ES = 3.1), as was mean respiratory rate (19 ± 3 vs. 16 ± 3 breaths per minute, P < 0.01, ES = 1.0). Mean arterial pressure was higher for OPA versus REST at simulation start (105 ± 11.3 vs. 95.8 ± 11.8 mm Hg, P = 0.01, Effect Size = 0.8), although not different after simulation.

Conclusions
Paramedicine students including recent graduates performed as well, or better, in a simulated clinical scenario immediately after occupation-specific acute physical exertion compared with a REST, despite higher physiological exertion. Whether this is the case for more experienced but potentially less physically fit paramedics in the workforce warrants investigation.
Visual Fixation on the Thorax Predicts Bystander Breathing Detection in Simulated Out-of-Hospital Cardiac Arrest, but Video Debriefing With Eye Tracking Gaze Overlay Does Not Enhance Postallocation Success Rate
Authors: Pedrotti Marco , Terrier Philippe , Gelin Louis , Stanek Marc , Schirlin Olivier 
Published: November 2021

Introduction
Bystander cardiopulmonary resuscitation in out-of-hospital cardiac arrest is associated with higher survival rates. Even trained health care staff cannot assess breathing well enough to detect cardiac arrest. Recognition of cardiac arrest by lay rescuers might be overlooked in adult basic life support resuscitation guidelines, which explain what to do, but not how to do it. The 2015 Adult Advanced Life Support Resuscitation Guidelines recommend to “look for chest movement.” We hypothesize (1) that instructing lay rescuers to look for chest movement allows detecting breathing (or lack thereof); (2) that showing a person their own recorded gaze overlay during a video debriefing intervention enhances breathing detection at postallocation; and (3) that the more time spent looking at a cardiac arrest victim's chest, the greater the probability of detecting breathing (or lack thereof).

Methods
Monocentric, blinded, prospective, 2-arm parallel randomized controlled trial with balanced randomization (1:1). The design entailed a preallocation simulation, an intervention (video debriefing with or without gaze overlay), and a postallocation simulation. A follow-up simulation took place after 6 months. The main outcome measured was success in detecting breathing. Participants were all prospective students of a bachelor's degree program in nursing.

Results
All participants performed better at postallocation (success rate at preallocation = 59%, postallocation = 79%, χ2 = 7.22, P < 0.01) regardless of viewing their own gaze overlay during video debriefing. We failed to obtain a sufficient number of participants for the follow-up simulation. Instructing lay rescuers to look for chest movement allows them to detect breathing (or lack thereof). Each second spent looking at the thorax increased the odds of successfully detecting breathing by 38%. Mean thorax gaze duration significantly increased by 5.95 seconds (95% confidence interval = 4.71–7.31) from preallocation (3.46 seconds, SD = 4.16) to postallocation (9.41 seconds, SD = 5.98). Laypersons' median diagnosis time was 15.5 seconds (range = 2–63 seconds), similar to another study (13 seconds, range = 5–40 seconds).

Conclusions
This is the second study in which the median time to decision exceeded the maximum 10 seconds recommended. International guidelines should consider increasing the time allowed for the “check breathing” step of bystander cardiopulmonary resuscitation procedures.
New Injury Severity Score and Trauma Injury Severity Score are superior in predicting trauma mortality
Authors: Chun Magnus , Zhang Yichi , Becnel Chad , Brown Tommy , Hussein Mohamed , Toraih Eman , Taghavi Sharven , Guidry Chrissy , Duchesne Juan , Schroll Rebecca , McGrew Patrick 
Published: November 2021

BACKGROUND
Trauma scores are used to give clinicians appropriate quantitative context in making decisions. Studies show that anatomical trauma scores predicted intensive care unit admission better, while physiological trauma scores predicted mortality better. We hypothesize that trauma scores have a hierarchy of efficacies at predicting mortality and operative decision making.

METHODS
We performed a retrospective analysis of our trauma patient database at a level 1 trauma center from 2016 to 2020 and calculated the following trauma scores: Glasgow Coma Scale, Revised Trauma Score, Trauma Injury Severity Score, Injury Severity Score, Shock Index, and New Trauma Injury Severity Score (NISS). Receiver operating characteristic curves were used to evaluate the sensitivity and specificity of trauma scores for predicting mortality.

RESULTS
A total of 738 patients were included (mean ± SD age, 35.7 ± 15.6 years). Area under the curve (AUC) results from the DeLong test showed that NISS predicted mortality the best compared with other trauma scores. New Trauma Injury Severity Score was superior in predicting mortality for penetrating trauma (AUC, 0.86 ± 0.02; p < 0.001) compared with blunt trauma (AUC, 0.73 ± 0.04; p < 0.001). Trauma Injury Severity Score was the best predictor of mortality for patients with gunshot wounds (AUC, 0.83; 95% confidence interval [CI], 0.73–0.92; p < 0.001), motor vehicle accidents (AUC, 0.80; 95% CI, 0.61–1.00; p = 0.01), and falls (AUC, 0.73; 95% CI, 0.61–0.85; p = 0.007).

CONCLUSION
New Trauma Injury Severity Score was the best scoring index for predicting mortality in trauma patients, especially for penetrating trauma. Clinicians should consider incorporating other trauma scores, especially NISS and Trauma Injury Severity Score, in determining injury severity and the likelihood of mortality. These scores can help physicians determine the best course of action in patient management.

LEVEL OF EVIDENCE
Prognostic and Epidemiologic; level IV.
Factors associated with stroke formation in blunt cerebrovascular injury: An EAST multicenter study
Authors: Esposito Emily C. , Kufera Joseph A. , Wolff Timothy W. , Spalding M. Chance , Simpson Joshua , Dunn Julie A. , Zier Linda , Burruss Sigrid , Kim Paul , Jacobson Lewis E. , Williams Jamie , Nahmias Jeffry , Grigorian Areg , Harmon Laura , Gergen Anna , Chatoor Matthew , Rattan Rishi , Young Andrew J. , Pascual Jose L. , Murry Jason , Ong Adrian W. , Muller Alison , Sandhu Rovinder S. , Appelbaum Rachel , Bugaev Nikolay , Tatar Antony , Zreik Khaled , Hustad Leah , Lieser Mark J. , Stein Deborah M. , Scalea Thomas M. , Lauerman Margaret H. 
Published: November 2021

BACKGROUND
Stroke risk factors after blunt cerebrovascular injury (BCVI) are ill-defined. We hypothesized that factors associated with stroke for BCVI would include medical therapy (i.e., Aspirin), radiographic features, and protocolization of care.

METHODS
An Eastern Association for the Surgery of Trauma–sponsored, 16-center, prospective, observational trial was undertaken. Stroke risk factors were analyzed individually for vertebral artery (VA) and internal carotid artery (ICA) BCVI. Blunt cerebrovascular injuries were graded on the standard 1 to 5 scale. Data were from the initial hospitalization only.

RESULTS
Seven hundred seventy-seven BCVIs were included. Stroke rate was 8.9% for all BCVIs, with an 11.7% rate of stroke for ICA BCVI and a 6.7% rate for VA BCVI. Use of a management protocol (p = 0.01), management by the trauma service (p = 0.04), antiplatelet therapy over the hospital stay (p < 0.001), and Aspirin therapy specifically over the hospital stay (p < 0.001) were more common in ICA BCVI without stroke compared with those with stroke. Antiplatelet therapy over the hospital stay (p < 0.001) and Aspirin therapy over the hospital stay (p < 0.001) were more common in VA BCVI without stroke than with stroke. Percentage luminal stenosis was higher in both ICA BCVI (p = 0.002) and VA BCVI (p < 0.001) with stroke. Decrease in percentage luminal stenosis (p < 0.001), resolution of intraluminal thrombus (p = 0.003), and new intraluminal thrombus (p = 0.001) were more common in ICA BCVI with stroke than without, while resolution of intraluminal thrombus (p = 0.03) and new intraluminal thrombus (p = 0.01) were more common in VA BCVI with stroke than without.

CONCLUSION
Protocol-driven management by the trauma service, antiplatelet therapy (specifically Aspirin), and lower percentage luminal stenosis were associated with lower stroke rates, while resolution and development of intraluminal thrombus were associated with higher stroke rates. Further research will be needed to incorporate these risk factors into lesion specific BCVI management.

LEVEL OF EVIDENCE
Prognostic and Epidemiologic, Level IV.
Protein arginylation is regulated during SARS-CoV-2 infection
Authors: Macedo-da-Silva Janaina , Rosa-Fernandes Livia , de Moraes Gomes Vinicius , Santiago Verônica Feijoli , Molnár Catarina Maria Stanischesk , Barboza Bruno R. , de Sousa Edmarcia Elisa , Durigon Edison Luiz , Marinho Claudio R. F. , Wrenger Carsten , Marie Suely Kazue Nagahashi , Palmisano Giuseppe 
Published: November 2021

ABSTRACTIn 2019, the world witnessed the onset of an unprecedented pandemic. In September 2021, the infection by SARS-CoV-2 had already been responsible for the death of more than 4 million people worldwide. Recently, we and other groups discovered that SARS-CoV-2 infection induces ER-stress and activation of unfolded protein response (UPR) pathway. The degradation of misfolded/unfolded proteins is an essential element of proteostasis and occurs mainly in lysosomes or proteasomes. The N-terminal arginylation of proteins is characterized as an inducer of ubiquitination and proteasomal degradation by the N-end rule pathway. Here we present, for the first time, data on the role of arginylation during SARS-CoV-2 infection. We studied the modulation of protein arginylation in Vero CCL-81 and Calu-3 cells infected after 2h, 6h, 12h, 24h, and 48h. A reanalysis of in vivo and in vitro public omics data combined with immunoblotting was performed to measure the levels of ATE1 and arginylated proteins. This regulation is seen specifically during infections by coronaviruses. We demonstrate that during SARS-CoV-2 infection there is an increase in the expression of the ATE1 enzyme associated with regulated levels of specific arginylated proteins. On the other hand, infected macrophages showed no ATE1 regulation. An important finding revealed that modulation of the N-end rule pathway differs between different types of infected cells. We also confirmed the potential of tannic acid to reduce viral load, and furthermore, to modulate ATE1 levels during infection. In addition, the arginylation inhibitor merbromin (MER) is also capable of both reducing viral load and reducing ATE1 levels. Taken together, these data show the importance of arginylation during the progression of SARS-CoV-2 infection and open the door for future studies that may unravel the role of ATE1 and its inhibitors in pathogen infection.
Neuronal responses in mouse inferior colliculus correlate with behavioral detection of amplitude modulated sound
Authors: van den Berg Maurits M. , Busscher Esmée , Borst J. Gerard G. , Wong Aaron B. 
Published: November 2021

AbstractAmplitude modulation (AM) is a common feature of natural sounds, including speech and animal vocalizations. Here, we used operant conditioning andin vivoelectrophysiology to determine the AM detection threshold of mice as well as its underlying neuronal encoding. Mice were trained in a Go-NoGo task to detect the transition to AM within a noise stimulus designed to prevent the use of spectral side-bands or a change in intensity as alternative cues. Our results indicate that mice, in comparison with other species, detect high modulation frequencies up to 512 Hz well, but show much poorer performance at low frequencies. Ourin vivomultielectrode recordings in the inferior colliculus (IC) of both anesthetized and awake mice revealed a few single units with remarkable phase-locking ability to 512 Hz modulation, but not sufficient to explain the good behavioral detection at that frequency. Using a model of the population response that combined dimensionality reduction with threshold detection, we reproduced the general band-pass characteristics of behavioral detection based on a subset of neurons showing the largest firing rate change (both increase and decrease) in response to AM, suggesting that these neurons are instrumental in the behavioral detection of AM stimuli by the mice.New and NoteworthyThe amplitude of natural sounds, including speech and animal vocalizations, often shows characteristic modulations. We examined the relationship between neuronal responses in the mouse inferior colliculus and the behavioral detection of amplitude modulation in sound, and modelled how the former can give rise to the latter. Our model suggests that behavioral detection can be well explained by the activity of a subset of neurons showing the largest firing rate changes in response to AM.
Marked enhancement of neutralizing antibody and IFN-γ T-cell responses by GX-19N DNA booster in mice primed with inactivated vaccine
Authors: Seo Yong Bok , Shin Duckhyang , Suh You Suk , Na Juyoung , Ryu Ji In , Sung Young Chul 
Published: November 2021

SummaryIn response to the COVID-19 pandemic, an unprecedented level of vaccine development has occurred. As a result, various COVID-19 vaccines have been approved for use. Among these, inactivated virus particle (VP) vaccines have been widely used worldwide, but additional vaccination strategies are needed because of the short duration of immune responses elicited by these vaccines. Here, we evaluated homologous and heterologous prime–boost regimens using a VP vaccine and GX-19N DNA vaccine for their ability to enhance the protective immune response against SARS-CoV-2. We demonstrated that a heterologous prime–boost regimen with the VP vaccine and GX-19N DNA vaccine resulted in enhanced SRBD- & N-specific antibody responses, compared to the homologous VP vaccine prime–boost vaccination. In addition, the neutralizing antibody response was significantly improved with the heterologous VP prime–DNA boost regimen, and the neutralizing antibody induced with the heterologous prime–boost regimen did not decrease against the SARS-CoV-2 variant of concern (VOC). The heterologous VP prime–DNA boost regimen not only significantly increased S- and N-specific IFN-γ T-cell responses, but also induced an equivalent level of T-cell response against SARS-CoV-2 VOCs. Our results provide new insights into prophylactic vaccination strategies for COVID-19 vaccination.
Life after mild traumatic brain injury: Widespread structural brain changes associated with psychological distress revealed with multimodal magnetic resonance imaging
Authors: Sibilia Francesca , Custer Rachel M. , Irimia Andrei , Sepehrband Farshid , Toga Arthur , Cabeen Ryan P. ,   the TRACK-TBI Investigators
Published: November 2021

AbstractBackgroundTraumatic brain injury (TBI) can alter brain structure and lead to onset of persistent neuropsychological symptoms. This study investigates the relationship between brain damage and psychological distress after mild TBI (mTBI) using multimodal magnetic resonance imaging (MRI).MethodsEighty-nine mTBI patients from the TRACK-TBI (Transforming Research and Clinical Knowledge in Traumatic Brain Injury) pilot study were included. Subscales of the Brief Symptoms Inventory 18 for depression, anxiety, and somatization were used as outcome measures of psychological distress ∼6 months after the traumatic event. Glasgow Coma Scale scores were used to evaluate recovery. MRIs were acquired within 2 weeks post-injury. Perivascular spaces (PVS) were segmented using an enhanced PVS segmentation method, and the volume fraction was calculated for the whole brain and white matter regions. Cortical thickness and gray matter structures volumes were calculated in Freesurfer; diffusion imaging indices and multi-fiber tracts were extracted using the Quantitative Imaging Toolkit. The analysis was performed considering age, sex, intracranial volume, educational attainment, and improvement level upon discharge as covariates.ResultsPerivascular space fractions in the posterior cingulate, fusiform, and postcentral areas were found to be associated with somatization symptoms. Depression, anxiety, and somatization symptoms were associated with the cortical thickness of the frontal- opercularis and occipital pole, putamen and amygdala volumes, and corticospinal tract and superior thalamic radiation. Analyses were also performed on the two hemispheres separately to explore lateralization.ConclusionsThis study shows how PVS, cortical, and microstructural damages can predict the onset of depression, anxiety, and somatization symptoms in mTBI patients.
Non-Invasive Prenatal Testing (NIPT) Results for Participants of the eXtraordinarY Babies Study: Screening, Counseling, Diagnosis, and Discordance
Authors: Howell Susan , Davis Shanlee M , Thompson Talia , Brown Mariah , Tanda Tanea , Kowal Karen , Alston Amanda , Ross Judith , Tartaglia Nicole R 
Published: November 2021

ABSTRACTSex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately 1/500 livebirths. Clinical phenotypes are highly variable resulting in previous ascertainment rates have been estimated to be only 10-25% during a lifetime. Historically, prenatal SCA diagnoses were incidental findings, accounting for ≤10% of cases, with the majority of diagnoses occurring postnatally during evaluations for neurodevelopmental, medical, or infertility concerns. The initiation of noninvasive prenatal testing (NIPT) in 2012 and adoption into standardized obstetric care provides a unique opportunity to significantly increase prenatal ascertainment of SCAs. However, the impact NIPT has had on ascertainment of SCAs is understudied, particularly for those who may defer diagnostic testing until after birth. This study evaluates the timing of diagnostic testing following positive NIPT in 152 infants with SCAs and potential factors influencing this decision. Eighty-seven (57%) elected to defer diagnostic testing after a positive NIPT until birth, and 8% (7/87) of those confirmed after birth were found to have discordant results on postnatal diagnostic testing, most of which would have influenced genetic counseling.