bluuebunny/crossref_metadata_2025 huggingface dataset:
Anti–Plexin-D1 Seropositive Small Fiber Neuropathy: Clinical Phenotype, Demographics, and Literature Review
Authors: Murin Peyton J. , Massabki Ivana , Kafaie Jafar
Published: March 2024

Objectives:

Small fiber neuropathy (SFN) is a subtype of painful neuropathies defined by dysfunction of the Aδ and unmyelinated C fibers. It presents with both neuropathic pain and dysautonomia symptoms, posing a significant diagnostic and therapeutic challenge. To address this challenge, research has been conducted to identify autoantibodies and define their association with phenotypes.

Methods:

Eleven cases of anti–plexin-D1 seropositive SFN were reviewed, along with relevant literature, in attempt to better define anti–plexin-D1 SFN demographics, symptoms, associated medical conditions, and therapeutics.

Results:

Anti–plexin-D1 SFN typically presents in female patients, with neuropathic pain, normal skin biopsy findings, and normal nerve conduction studies. Anti–plexin-D1 shows an association with concurrent chronic pain, with almost half of the patients undergoing an interventional procedure.

Conclusions:

Anti–plexin-D1 represents a unique subgroup of SFN, defined by distinct demographics, phenotype, biopsy findings, and therapeutic management.
Commentary: Community Health Workers and Peace Building Through Health in the Israeli-Palestinian Conflict After October 7th
Authors: Goldfield Norbert
Published: March 2024

Health professionals, despite increasing challenges, with notable exceptions, always pursue peace through health because it is who we are—we are here to heal both at the individual and the community level. This applies to the long-standing Israeli-Palestinian conflict. Unfortunately, till now, nongovernmental organizations have had minimal impact on the conflict. This commentary makes 2 recommendations for donor countries after the fighting subsides: Do not insist on Israeli-Palestinian joint ventures at least for the short term and focus as much as possible your funding on interventions that improve community health.
Making Recommendations for an Evaluation and Treatment Algorithm for Patients with Ear Fullness and No Objective Abnormalities
Authors: Lee Kelly , Adamovich-Zeitlin Richard , Svrakic Maja
Published: March 2024

Objective

To make recommendations for evaluation, approach to counseling and treatment for patients who present with ear fullness without abnormalities on otomicroscopic examination, standard audiometric studies, or imaging results.

Methods

Retrospective chart review of adult patients in a tertiary referral center presenting with ear fullness and/or otalgia without external, middle, and/or inner ear pathologies. Data collected include demographics (age and gender), laterality and duration of symptoms, co-morbid conditions and final diagnoses of temporomandibular joint (TMJ) dysfunction, intermittent Eustachian tube dysfunction (iETD), migraine disorder, and anxiety.

Results

In the span of 8 years of a single neurotologist's practice, 964 patients presented with ear fullness. After excluding all instances where external, middle, and inner ear disorders were identified and where audiometric and radiologic findings were abnormal, 263 patients had ear fullness and no objective causes. Women were more likely than men to complain of ear fullness and/or otalgia and were also more likely to present with no objective abnormalities (p < 0.05). Patients who reported isolated ear fullness were more likely to be diagnosed with iETD, whereas patients who reported pain were more likely to be diagnosed with TMJ dysfunction (TMJD). Fourteen patients (5.3%) had completely unexplained sensation of ear fullness.

Conclusions

There were 94.7% of the patients presenting with unexplained ear fullness were diagnosed as having a possible contribution of TMJ dysfunction, IETD, migraine disorder, anxiety, or a combination of these conditions to their symptomatology. Directing treatments toward these diagnoses may alleviate symptoms of ear fullness or, if unsuccessful, provide an avenue for counseling in the framework of functional neurologic disorders.
Comparison of the 3D-Exoscope and Operating Microscope in Mastoidectomy
Authors: Lee Jung Woo , Kim Jia , Kim Hwabin , Kong Soo-Keun , Choi Sung-Won , Oh Se-Joon
Published: March 2024

Objectives

The operating microscope (OM) commonly used in ear surgeries has several disadvantages, including a low depth of field, a narrow field of view, and unfavorable ergonomic characteristics. The exoscope (EX) was developed to overcome these disadvantages. Herein, we compared OM and EX during mastoidectomy and found out the feasibility of the EX.

Study Design

Prospective randomized comparative study.

Setting

Tertiary academic medical center.

Patients

Patients who had mastoidectomy for chronic otitis media with or without cholesteatoma between January 2022 and April 2022.

Intervention

Canal wall-up mastoidectomy (CWUM) or canal wall-down mastoidectomy (CWDM) using OM or EX without endoscope.

Main Outcome Measures

Operative setting time (the time between the end of general anesthesia and incision), operative time (from incision to suture), postoperative audiologic outcomes, perioperative complications, and the decision to switch from EX to OM.

Results

Of 24 patients who were diagnosed with chronic otitis media or cholesteatoma, 12 each were randomly assigned to the OM or EX group. The mean operation time was 175 ± 26.5 minutes and 172 ± 34.6 minutes in the EX and OM group, respectively, which was not significantly different (p = 0.843). The procedures in the EX group were successfully completed using a three-dimensional (3D)-EX without conversion to OM. All surgeries were completed without any complications. The postoperative difference in the air and bone conduction was 11.2 and 12.4 dB in the EX and OM groups, respectively, which was not significantly different (p = 0.551).

Conclusions

EX is comparable to OM in terms of surgical time, complications, and audiologic outcomes following mastoidectomy. The EX system is a potential alternative to OM. However, further improvements are required to overcome some drawbacks (deterioration of image resolution at high magnification, requirement of an additional controller for refocusing).
Endoscopic Versus Microscopic Transcanal Resection of Glomus Tympanicum: A Retrospective Comparative Study
Authors: Kunnath Ansley J. , Freeman Michael H. , Witcher Ryan , Patro Ankita , Lindquist Nathan R. , Tawfik Kareem O.
Published: March 2024

Objective

Comparison of outcomes of microscopic and endoscopic resection of glomus tympanicum (GT) tumors

Study Design

Retrospective case review.

Setting

Single tertiary referral center.

Patients

All adult patients undergoing transcanal GT resection without mastoidectomy from 2007 to 2021

Interventions

Surgical resection—endoscopic versus microscopic approach.

Main Outcome Measures

Primary outcomes were tumor recurrence at 1 year and presence of residual tumor at conclusion of surgery. Secondary outcome measures included operative time, postoperative air-bone gap, postoperative symptom resolution, and surgical complications.

Results

Thirty-eight patients underwent resection of GT (74% female; mean age, 59 years). Twenty-nine cases were performed microscopically, and nine cases were performed endoscopically. Both endoscopic and microscopic approaches yielded high rates of complete tumor resection (27/29 microscopic cases, 7/9 endoscopic cases). There was no significant difference in mean operative time (2.3 hours for microscopic; 2.6 hours for endoscopic). On average, air-bone gaps (ABGs) decreased by 6.3 dB after endoscopic resection compared with 1.0 dB after microscopic resection (p = 0.064). No patients were found to have tumor recurrence during an average follow-up interval of 21 months.

Conclusions

These results suggest comparable outcomes with both endoscopic and microscopic approaches for GT resection, and decisions regarding preferred approach should be dictated by surgeon preference.
Enteral nutrition in septic shock: a call for a paradigm shift
Authors: Patel Jayshil J. , Lopez-Delgado Juan Carlos , Stoppe Christian , McClave Stephen A.
Published: March 2024

Purpose of review

The purpose of this review is to identify contemporary evidence evaluating enteral nutrition in patients with septic shock, outline risk factors for enteral feeding intolerance (EFI), describe the conundrum of initiating enteral nutrition in patients with septic shock, appraise current EFI definitions, and identify bedside monitors for guiding enteral nutrition therapy.

Recent findings

The NUTRIREA-2 and NUTRIREA-3 trial results have better informed the dose of enteral nutrition in critically ill patients with circulatory shock. In both trials, patients with predominant septic shock randomized to receive early standard-dose nutrition had more gastrointestinal complications. Compared to other contemporary RCTs that included patients with circulatory shock, patients in the NUTRIREA-2 and NUTRIREA-3 trials had higher bowel ischemia rates, were sicker, and received full-dose enteral nutrition while receiving high baseline dose of vasopressor. These findings suggest severity of illness, vasopressor dose, and enteral nutrition dose impact outcomes.

The provision of early enteral nutrition preserves gut barrier functions; however, these benefits are counterbalanced by potential complications of introducing luminal nutrients into a hypo-perfused gut, including bowel ischemia. Findings from the NUTRIREA2 and NUTRIREA-3 trials substantiate a ‘less is more’ enteral nutrition dose strategy during the early acute phase of critical illness. In the absence of bedside tools to guide the initiation and advancement of enteral nutrition in patients with septic shock, the benefit of introducing enteral nutrition on preserving gut barrier function must be weighed against the risk of harm by considering dose of vasopressor, dose of enteral nutrition, and severity of illness.
Effective approaches to address noncompressible torso hemorrhage
Authors: Maegele Marc
Published: March 2024

Purpose of review

Noncompressible torso hemorrhage (NCTH) is now considered as the major cause of preventable death after both severe military and civilian trauma. Around 20% of all trauma patients still die from uncontrolled exsanguination along with rapidly evolving hemostatic failure. This review highlights the most recent advances in the field and provides an outline for future research directions.

Recent findings

The updated definition of NCTH includes a combination of high-grade anatomical torso injury, hemodynamic instability, urgent need for hemorrhage control and aggressive hemostatic resuscitation. Therapeutic concepts consider the following three aspects: control the bleeding source (close the tap), resuscitate to maintain organ perfusion and restore hemostasis (fill the tank), and increase the body's resistance against ischemia (upgrade the armor).

The concepts for the early management of NCTH have substantially evolved over the last decade. The development of new devices and techniques combined with early intervention of hemostatic failure have contributed to more successful resuscitations. Future research needs to refine and validate their potential clinical application.
Current fistula management
Authors: Vanzant Erin , Thompson Ashley , Mendoza April , Yeh Dante
Published: March 2024

Purpose of review

Enterocutaneous fistulas (ECFs) pose a significant impact in the healthcare system, both financially and in resource utilization. Delivery of optimal care is complex and involves intensive wound care, complex nutritional delivery and multidisciplinary care teams for optimization. Recently, there have been pushes to modernize the traditional approach to ECF care to a new paradigm of protocol-based individualized delivery of care.

Recent findings

There is an increased trend towards pushing enteral nutrition for the management of ECF patients. Adjuncts, including improved fistuloclysis devices, supplements and absorptive aides have challenged the conventional dogma of ECF treatment. There has also been increased focus on surgical prehabilitation and the ability to improve patient outcomes.

ECF care is complex and requires a multidisciplinary approach focused on source control, nutritional optimization with focus on enteral nutrition, wound care and prehabilitation.
Obesity-related asthma: new insights leading to a different approach
Authors: Witte Adjan , Türk Yasemin , Braunstahl Gert-Jan
Published: March 2024

Purpose of review

Obesity is a growing global health threat that significantly contributes to the burden of asthma by increasing the risk of developing asthma and exerting a distinct effect on lung function and inflammation. The treatment of obesity-related asthma is hindered by a poor response to standard asthma treatments, leading to worse asthma control. Weight loss strategies have a significant effect on asthma symptoms but are not feasible for a large proportion of patients, underscoring the need for a better understanding of the pathophysiology and the development of additional treatment options.

Recent findings

Recent literature focusing on pathophysiology particularly delved into nontype 2 inflammatory mechanisms, associations with the metabolic syndrome and small airway impairment. Additionally, several new treatment options are currently investigated, including biologics, weight reduction interventions, and novel antiobesity drugs.

Obesity-related asthma is a highly prevalent asthma phenotype for which weight loss strategies currently stand as the most specific treatment. Furthermore, novel pharmacological interventions aiming at metabolic processes are on the way.
Preoperative geriatric assessment of urological patients: a narrative review
Authors: Köller Marcus
Published: March 2024

Purpose of review

The proportion of older people is increasing disproportionately. The age between 60 and 65 years is seen as the transition to ‘old age’. Frailty is a risk factor for morbidity, mortality, and complications in the context of medical interventions or adverse effects of drug therapies. One of the core components of frailty, the age-related loss of muscle mass, is sarcopenia. Is there an influence of frailty, as well as sarcopenia and some other aspects, i.e. malnutrition, on the outcome in elderly urologic patients?

Recent findings

These phenomena of aging correlate with the incidence postoperative complication, infections, readmission rates or mortality. There are numerous studies on the value and informative value of the 5-item frailty index or the G8 questionnaire in older urological patients.

Geriatric assessment is becoming increasingly important in urological surgery. Simple instruments that are practicable in clinical routine are required in this clinical setting. Which method of preoperative assessment is chosen is secondary. It is important that the risk of geriatric syndromes is assessed prior to surgical interventions in order to determine the most suitable therapeutic approach for each patient.
Guillain-barre syndrome following COVID-19 vaccination: A study of 70 case reports
Authors: Sah Biki Kumar , Fatima Zahra , Sah Rajan Kumar , Syed Bushra , Garg Tulika , Chowdhury Selia , Ghosh Bikona , Kunwar Binita , Shree Anagha , Sah Vivek Kumar , Raut Anisha
Published: March 2024

Background and objective:

Guillain-Barre Syndrome (GBS) has been found to have some interesting association with vaccinations. This paper mainly focuses on exploring different associations between COVID-19 vaccination and GBS.

Methods:

Electronic databases such as PubMed, Google Scholar, Cochrane, and Embase were searched using MESH terms for case reports published till 1st August 2023 from which 70 case reports were documented involving 103 individuals from 23 different countries.

Result and discussion:

The case reports were from a wide range of individuals aged from 13 to 87 years with an average age of 53±20 IQR years along with male predominance. The average time between receiving the vaccine and the onset of symptoms was 13.08±2.14 days. Prominent clinical features included back pain, facial diplegia, weakness, and paresthesia whereas the main diagnostic studies were cerebrospinal fluid (CSF) analysis and electromagnetic studies. The principal diagnostic clue was albumin-cytological dissociation in CSF while being negative for anti-ganglioside antibodies or SARS-CoV-2. Available treatment options consisted of IVIG and Plasmapheresis. Patients with comorbidities such as diabetes mellitus, hypertension, dyslipidemia, permanent atrial fibrillation, hypothyroidism, Hashimoto’s thyroiditis, COPD, asthma, osteoporosis, migraine, rheumatoid arthritis, osteoarthritis, ulcerative colitis, celiac disease, seizures, bipolar disorder, endometriosis, multiple sclerosis, bell’s palsy, squamous cell carcinoma, prostate cancer were included in our study.

Conclusion:

Overall, this review evaluated innovative and clinically relevant associations between COVID-19 vaccination and GBS. Understanding of this uncommon potential side effect of COVID-19 vaccination is crucial for prompt diagnosis and appropriate treatment. Importantly, GBS should not be considered a contraindication to vaccination. This underscores the importance of ongoing research to enhance the safety and efficacy of COVID-19 vaccination efforts.
Renal vein thrombosis in a patient secondary to high grade Rhabdoid renal cell carcinoma: a case report and review of literature
Authors: KC Manish , Bhattarai Himal Bikram , Subedi Pratik , Kashyap Ashutosh , Wadhwa Manish , Kaur Dania , Koirala Sabina , Gautam Swotantra
Published: March 2024

Introduction:

Renal cell carcinoma, a common kidney tumor which is often incidentally discovered on imaging, can manifest with atypical symptoms. Renal cell carcinoma with rhabdoid features is a rare occurrence and even rarer in case of adults. Renal cell carcinoma has the tendency to form thrombus that can migrate to renal vein, inferior venacava and even right atrium.

Case Presentation:

The authors report a case of an 81-year-old male with rhabdoid renal cell carcinoma presenting with persistent cough for six to seven months. with tumor thrombus extending into the renal vein and hepatic inferior vena cava. The patient was found feeble for the surgery and hence was treated on anticancer drugs pembrolizumab and axitinib.

Conclusion:

Renal cell carcinoma has the tendency to form tumor thrombus in renal vein and inferior vena cava. Prognosis without surgical intervention in these conditions is very poor.
Percutaneous posterior to anterior screw fixation through achilles tendon for posterior malleolus fractures: technique description and case series
Authors: Dimitroulias Apostolos , Putur Danielle , Bogdan Yelena , Sen Milan K.
Published: March 2024

Posterior malleolus fractures (PMFs) (OTA 43B1.1) are frequently seen in combination with fractures of the fibula, medial malleolus, and distal tibia; they can rarely be seen in isolation. PMFs affect the alignment of the ankle mortise and the stability of syndesmosis. Techniques described for fixation of PMFs include open reduction internal fixation through a posterolateral or posteromedial approach or anterior-to-posterior screw fixation. For selected minimally displaced or nondisplaced fractures of the posterior malleolus, we developed a percutaneous technique through the Achilles tendon for the insertion of a posterior-to-anterior cannulated screw. The technique is described, and a clinical series is reviewed.
The Role of Fingernails in Death Investigation
Authors: Wankhede Ashesh Gunwantrao
Published: March 2024

In forensic pathology, forensic onychology studies fingernails and toenails for medicolegal purposes. It mainly deals with DNA profiling from nails, toxicological analysis for detecting poisons, and the collection of trace evidence present under the nails. Injuries to fingernails and their interpretation for medicolegal purposes are the neglected areas of this study. We have discussed the most common types of fingernail injuries and their significance. We found that their notification has significant value in drowning cases, defense wounds on the palm, self-inflicted cuts, burns, electrocution, blunt trauma, physical assault, sexual offenses, and other issues like torture. We emphasize the examination of fingernails in the autopsy and medicolegal clinical examination for better administration of law and justice.
Recovery after moderate to severe TBI and factors influencing functional outcome: What you need to know
Authors: Golden Katherine , Borsi Lydia , Sterling Ally , Giacino Joseph T.
Published: March 2024

Traumatic brain injury (TBI) represents a major cause of death and disability, significantly impacting the lives of 2.5 million people annually in the United States. Long-term natural history studies have clarified that functional recovery continues for up to a decade, even among those who sustain severe TBI. Despite these findings, nihilistic attitudes regarding prognosis persist among clinicians, highlighting the need for improved understanding of the natural history of recovery from TBI and the factors that influence outcome. Recent advances in neuroimaging technologies and blood-based biomarkers are shedding new light on injury detection, severity classification and the physiologic mechanisms underlying recovery and decline postinjury. Rehabilitation is an essential component of clinical management after moderate to severe TBI and can favorably influence mortality and functional outcome. However, systemic barriers, including healthcare policy, insurance coverage and social determinants of health often limit access to inpatient rehabilitation services. Posttraumatic amnesia and confusion contribute to morbidity after TBI; however, early initiation and sustained provision of rehabilitation interventions optimize long-term outcome. Evidence-based reviews have clearly shown that cognitive rehabilitation strategies can effectively restore or compensate for the cognitive sequelae of TBI when used according to existing practice guidelines. Neurostimulant agents are commonly employed off-label to enhance functional recovery, however, only amantadine hydrochloride has convincingly demonstrated effectiveness when used under tested parameters. Noninvasive brain stimulation procedures, including transcranial direct current stimulation and transcranial magnetic stimulation, have emerged as promising treatments in view of their ability to modulate aberrant neuronal activity and augment adaptive neuroplasticity, but assessment of safety and effectiveness during the acute period has been limited. Understanding the natural history of recovery from TBI and the effectiveness of available therapeutic interventions is essential to ensuring appropriate clinical management of this complex population.
Social Vulnerability Index and Survivorship after Colorectal Cancer Resection
Authors: Masoud Sabran J , Seo Jein E , Singh Eden , Woody Regina L , Muhammed Makala , Webster Wendy , Mantyh Christopher R
Published: March 2024

BACKGROUND:

Race and socioeconomic status incompletely identify patients with colorectal cancer (CRC) at the highest risk for screening, treatment, and mortality disparities. Social vulnerability index (SVI) was designed to delineate neighborhoods requiring greater support after external health stressors, summarizing socioeconomic, household, and transportation barriers by census tract. SVI is implicated in lower cancer center use and increased complications after colectomy, but its influence on long-term prognosis is unknown. Herein, we characterized relationships between SVI and CRC survival.

STUDY DESIGN:

Patients undergoing resection of stage I to IV CRC from January 2010 to May 2023 within an academic health system were identified. Clinicopathologic characteristics were abstracted using institutional National Cancer Database and NSQIP. Addresses from electronic health records were geocoded to SVI. Overall survival and cancer-specific survival were compared using Kaplan–Meier and Cox proportional hazards methods.

RESULTS:

A total of 872 patients were identified, comprising 573 (66%) patients with colon tumor and 299 (34%) with rectal tumor. Patients in the top SVI quartile (32%) were more likely to be Black (41% vs 13%, p < 0.001), carry less private insurance (39% vs 48%, p = 0.02), and experience greater comorbidity (American Society of Anesthesiologists physical status III: 86% vs 71%, p < 0.001), without significant differences by acuity, stage, or CRC therapy. In multivariable analysis, high SVI remained associated with higher all-cause (hazard ratio 1.48, 95% CI 1.12 to 1.96, p < 0.01) and cancer-specific survival mortality (hazard ratio 1.71, 95% CI 1.10 to 2.67, p = 0.02).

CONCLUSIONS:

High SVI was independently associated with poorer prognosis after CRC resection beyond the perioperative period. Acknowledging needs for multi-institutional evaluation and elaborating causal mechanisms, neighborhood-level vulnerability may inform targeted outreach in CRC care.
Mechanism of electroconvulsive therapy in schizophrenia: a bioinformatics analysis study of RNA-seq data
Authors: Wang Tingting , Yu Minglan , Gu Xiaochu , Liang Xuemei , Wang Ping , Peng Wanhong , Liu Dongmei , Chen Dechao , Huang Chaohua , Tan Youguo , Liu Kezhi , Xiang Bo
Published: March 2024

Objective

The molecular mechanism of electroconvulsive therapy (ECT) for schizophrenia remains unclear. The aim of this study was to uncover the underlying biological mechanisms of ECT in the treatment of schizophrenia using a transcriptional dataset.

Methods

The peripheral blood mRNA sequencing data of eight patients (before and after ECT) and eight healthy controls were analyzed by integrated co-expression network analysis and the differentially expressed genes were analyzed by cluster analysis. Gene set overlap analysis was performed using the hypergeometric distribution of phypfunction in R. Associations of these gene sets with psychiatric disorders were explored. Tissue-specific enrichment analysis, gene ontology enrichment analysis, and protein–protein interaction enrichment analysis were used for gene set organization localization and pathway analysis.

Results

We found the genes of the green-yellow module were significantly associated with the effect of ECT treatment and the common gene variants of schizophrenia (P = 0.0061; family-wise error correction). The genes of the green-yellow module are mainly enriched in brain tissue and mainly involved in the pathways of neurotrophin, mitogen-activated protein kinase and long-term potentiation.

Conclusion

Genes associated with the efficacy of ECT were predominantly enriched in neurotrophin, mitogen-activated protein kinase and long-term potentiation signaling pathways.
The ethics of polygenic scores in psychiatry: minefield or opportunity for patient-centered psychiatry?
Authors: Wouters Roel H.P. , van der Horst Marte Z. , Aalfs Cora M. , Bralten Janita , Luykx Jurjen J. , Zinkstok Janneke R.
Published: March 2024

Recent advancements in psychiatric genetics have sparked a lively debate on the opportunities and pitfalls of incorporating polygenic scores into clinical practice. Yet, several ethical concerns have been raised, casting doubt on whether further development and implementation of polygenic scores would be compatible with providing ethically responsible care. While these ethical issues warrant thoughtful consideration, it is equally important to recognize the unresolved need for guidance on heritability among patients and their families. Increasing the availability of genetic counseling services in psychiatry should be regarded as a first step toward meeting these needs. As a next step, future integration of novel genetic tools such as polygenic scores into genetic counseling may be a promising way to improve psychiatric counseling practice. By embedding the exploration of polygenic psychiatry into the supporting environment of genetic counseling, some of the previously identified ethical pitfalls may be prevented, and opportunities to bolster patient empowerment can be seized upon. To ensure an ethically responsible approach to psychiatric genetics, active collaboration with patients and their relatives is essential, accompanied by educational efforts to facilitate informed discussions between psychiatrists and patients.
A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder
Authors: Gülcü Üstün Nur Seda
Published: March 2024

Autism spectrum disorder is a neurodevelopmental condition that involves limitations in social communication and various stereotypical repetitive behaviors. Genetic and environmental factors both play a role in the etiology. Numerous genetic syndromes accompanying autism spectrum disorders have been reported. Hypoventilation, hypotonia, intellectual disability, epilepsy, eye abnormality (HIDEA) syndrome is a rare genetic condition consisting of a combination of features such as hypoventilation, hypotonia, intellectual disability, eye abnormalities, and epilepsy. Very few cases of HIDEA syndrome have been reported in the literature to date. To the best of our knowledge, no cases of comorbid autism spectrum disorder and HIDEA syndrome have previously been reported. This report describes two brothers with a pathogenic P4HTM gene variant and autism spectrum disorder. One was diagnosed with HIDEA syndrome, while the other was a healthy carrier.
Development of an MRI-compatible robotic perturbation system for studying the task-dependent contribution of the brainstem to long-latency responses
Authors: Nikonowicz Rebecca C. , Sergi Fabrizio
Published: March 2024

Methodological constraints have hindered directin vivomeasurement of reticulospinal tract (RST) function. The RST is thought to contribute to the increase in the amplitude of a long latency response (LLR), a stereotypical response evoked in stretched muscles, that arises when participants are asked to “resist” a perturbation. Thus, functional magnetic resonance imaging (fMRI) during robot-evoked LLRs under different task goals may be a method to measure motor-related RST function. We have developed the Dual Motor StretchWrist (DMSW), a new MR-compatible robotic perturbation system, and validated its functionality via experiments that used surface electromyography (sEMG) and fMRI. A first study was conducted outside the MRI scanner on six participants using sEMG to measure wrist flexor muscle activity associated with LLRs under different task instructions. Participants were given a Yield or Resist instruction before each trial and performance feedback based on the measured resistive torque was provided after every “Resist” trial to standardize LLR amplitude (LLRa). In a second study, ten participants completed two sessions of blocked perturbations under 1) Yield, 2) Resist, and 3) Yield Slow task conditions (control) during whole-brain fMRI.

Statistical analysis of sEMG data shows significantly greater LLRa in Resist relative to Yield. Analysis of functional images shows increased activation primarily in the bilateral medulla and midbrain, and contralateral pons and primary motor cortex in the Resist condition. The results validate the capability of the DMSW to elicit LLRs of wrist muscles with different amplitudes as a function of task instruction, and its capability of simultaneous operation during fMRI.
Alanine and glutamate catabolism ensure proper sporulation by preventing premature germination and providing energy respectively
Authors: Lyu Fengzhi , Zhang Tianyu , Yang Dong , Rao Lei , Liao Xiaojun
Published: March 2024

Sporulation as a typical bacterial differentiation process has been studied for decades. However, two crucial aspects of sporulation, (i) the energy sources supporting the process, and (ii) the maintenance of spore dormancy throughout sporulation, are scarcely explored. Here, we reported the crucial role of RocG-mediated glutamate catabolism in regulating mother cell lysis, a critical step for successful sporulation, likely by providing energy metabolite ATP. Notably,rocGoverexpression resulted in an excessive ATP accumulation in sporulating cells, leading to adverse effects on future spore properties, e.g. increased germination efficiency, reduced DPA content, and lowered heat resistance. Additionally, we revealed that Ald-mediated alanine metabolism decreased the typical germinant L-alanine concentration in sporulating environment, thereby preventing premature germination and maintaining spore dormancy. Our data inferred that sporulation was a highly orchestrated biological process requiring a delicate balance in diverse metabolic pathways, hence ensuring both the completion of sporulation and production of high-quality spores.
Positron acceleration in plasma wakefields
Authors: Cao Gevy J. , Lindstrøm Carl A. , Adli Erik , Corde Sébastien , Gessner Spencer
Published: March 2024

Plasma acceleration has emerged as a promising technology for future particle accelerators, particularly linear colliders. Significant progress has been made in recent decades toward high-efficiency and high-quality acceleration of electrons in plasmas. However, this progress does not generalize to the acceleration of positrons, as plasmas are inherently charge asymmetric. Here, we present a comprehensive review of historical and current efforts to accelerate positrons using plasma wakefields. Proposed schemes that aim to increase energy efficiency and beam quality are summarized and quantitatively compared. A dimensionless metric that scales with the luminosity-per-beam power is introduced, indicating that positron-acceleration schemes are currently below the ultimate requirement for colliders. The primary issue is ; the high mobility of plasma electrons compared to plasma ions, which leads to nonuniform accelerating and focusing fields that degrade the beam quality of the positron bunch, particularly for high efficiency acceleration. Finally, we discuss possible mitigation strategies and directions for future research.

Published by the American Physical Society
2024
Symmetry energy and neutron star properties constrained by chiral effective field theory calculations
Authors: Lim Yeunhwan , Schwenk Achim
Published: March 2024

We investigate the nuclear symmetry energy and neutron star properties using a Bayesian analysis based on constraints from different chiral effective field theory calculations using new energy density functionals that allow for large variations at high densities. Constraints at high densities are included from observations of GW170817 and from NICER. In particular, we show that both NICER analyses lead to very similar posterior results for the symmetry energy and neutron star properties when folded into our equation-of-state framework. Using the posteriors, we provide results for the symmetry energy and the slope parameter, as well as for the proton fraction, the speed of sound, and the central density in neutron stars. Moreover, we explore correlations of neutron star radii with the pressure and the speed of sound in neutron stars. Our 95% credibility ranges for the symmetry energy Sv, the slope parameter L, and the radius of a 1.4M⊙ neutron star, R1.4, are Sv=(30.6–33.9)MeV, L=(43.7–70.0)MeV, and R1.4=(11.6–13.2)km. Our analysis for the proton fraction shows that larger and/or heavier neutron stars are more likely to cool rapidly via the direct Urca process. Within our equation-of-state framework a maximum mass of neutron stars Mmax>2.1M⊙ indicates that the speed of sound needs to exceed the conformal limit.

Published by the American Physical Society
2024
Signatures of primordial energy injection from axion strings
Authors: Benabou Joshua N. , Buschmann Malte , Kumar Soubhik , Park Yujin , Safdi Benjamin R.
Published: March 2024

Axion strings are horizon-size topological defects that may be produced in the early Universe. Ultralight axion-like particles may form strings that persist to temperatures below that of big bang nucleosynthesis. Such strings have been considered previously as sources of gravitational waves and cosmic microwave background (CMB) polarization rotation. In this work we show, through analytic arguments and dedicated adaptive mesh refinement cosmological simulations, that axion strings deposit a subdominant fraction of their energy into high-energy Standard Model (SM) final states, for example, by the direct production of heavy radial modes that subsequently decay to SM particles. This high-energy SM radiation is absorbed by the primordial plasma, leading to novel signatures in precision big bang nucleosynthesis, the CMB power spectrum, and gamma-ray surveys. In particular, we show that CMB power spectrum data constrains axion strings with decay constants fa≲1012  GeV, up to model dependence on the ultraviolet completion, for axion masses ma≲10−29  eV; future CMB surveys could find striking evidence of axion strings with lower decay constants.

Published by the American Physical Society
2024
Varying entropy degrees of freedom effects in low-scale leptogenesis
Authors: Karamitros Dimitrios , McKelvey Thomas , Pilaftsis Apostolos
Published: March 2024

We analyze in detail the effect of varying entropy degrees of freedom on low-scale leptogenesis models. As an archetypal model, we consider the triresonant leptogensis (TRL) scenario introduced recently by the authors, where the neutrino-Yukawa coupling matrix is dictated by an approximate Zn discrete symmetry (with n=3, 6). TRL models exhibit no preferred direction in the leptonic flavor space and have the remarkable feature that leptogenesis can successfully take place even if all light neutrinos are strictly massless up to one-loop order. Most interestingly, for TRL scenarios with heavy Majorana neutrinos lighter than 100 GeV, temperature varying degrees of freedom associated with the entropy of the plasma have a dramatic impact on the predictions of the baryon asymmetry in the Universe (BAU), and may depend on the freeze-out sphaleron temperature Tsph. We find that this is a generic feature of most freeze-out low-scale leptogenesis models discussed in the literature. In the same context, we consider heavy-neutrino scenarios realizing dynamics related to critical unstable qudits in the thermal plasma and assess their significance in generating the BAU. The phenomenological implications of TRL scenarios at the intensity and high-energy frontiers are analyzed.

Published by the American Physical Society
2024
Holographic dictionary from bulk reduction
Authors: Liu Wen-Bin , Long Jiang
Published: March 2024

We propose a holographic dictionary which comes from reducing the bulk theories in an asymptotically flat spacetime to its null infinity. A general boundary theory is characterized by a fundamental field, an infinite tower of descendant fields, constraints among the fundamental field and its descendants, as well as a symplectic form. For the Carrollian diffeomorphisms, we can construct the corresponding Hamiltonians which are also the fluxes from the bulk, and whose quantum operators realize this algebra with a divergent central charge. This central charge reflects the propagating degrees of freedom and can be regularized. For the spinning theory, we need a helicity flux operator to close the algebra which relates to the duality transformation.

Published by the American Physical Society
2024
Turbulence enhancement in body force opposed flows
Authors: Jackson S. , He S.
Published: March 2024

Turbulence may be strongly influenced by near-wall nonuniform body forces. A widely encountered example is buoyancy acting in mixed convection flows. Here we use direct numerical simulations to present two key ideas: First we show that introducing opposing body forces whilst maintaining the pressure gradient does not cause key turbulence characteristics to change. It follows that the concept of “apparent Reynolds number” introduced by He [] to explain laminarization can now be extended to explain the opposite phenomena of turbulence enhancement by opposing body forces. This new understanding has allowed turbulent shear stress and skin friction to be easily predicted simply from the nonuniform body force profile and reference data despite the nonequilibrium nature of the flow. Second, we analyze the flow in the context of turbulence regeneration cycle and provide evidence that complements the recent study from Jiménez [], which suggests that streaks are more decoupled from the regeneration cycle than previously thought.

Published by the American Physical Society
2024
Analysis of visual-based physics questions of the senior high school entrance examination in China
Authors: Wang Chengran , Wei Bing
Published: March 2024

The notion of scientific visual literacy has been advocated in recent science curriculum reform documents and related learning outcomes are expected from students. However, few studies have been conducted to determine how it is tested in high-stakes examinations. This study utilized the Visualization Blooming Tool to examine the level of visual cognition involved in visual-based physics questions in the Senior High School Entrance Examination (SHSEE) in China. Content analysis was adopted as the research method and 12 sets of the SHSEE physics from four Chinese metropolises (Beijing, Shanghai, Hangzhou, and Suzhou) in 2020, 2021, and 2022 were targeted. The results indicate that although all four metropolises examined the higher-order visual cognitive skills, they placed more emphasis on the levels of apply and analyze but less on evaluate and create. Moreover, the examination items required students to interpret visual representations more often than to construct them, which may be detrimental to developing students’ scientific visual literacy. It is suggested that the examination of higher-order visual cognitive skills and encoded visual representation should be strengthened in future high-stakes physics examinations.

Published by the American Physical Society
2024
Electron beams traversing spherical nanoparticles: Analytic and numerical treatment
Authors: Stamatopoulou P. Elli , Zhao Wenhua , Rodríguez Echarri Álvaro , Mortensen N. Asger , Busch Kurt , Tserkezis Christos , Wolff Christian
Published: March 2024

We present an analytic, Mie theory-based solution for the energy loss and the photon-emission probabilities in the interaction of spherical nanoparticles with electrons passing nearby and through them, in both cathodoluminescence and electron energy-loss spectroscopies. In particular, we focus on the case of penetrating electron trajectories, for which the complete fully electrodynamic and relativistic formalism has not been reported as yet. We exhibit the efficiency of this method in describing collective excitations in matter through calculations for a dispersive and lossy system, namely a sphere described by a Drude permittivity. Subsequently, we use the analytic solution to corroborate the implementation of electron-beam sources in a state-of-the-art numerical method for problems in electrodynamics, the discontinuous Galerkin time-domain (DGTD) method. We show that the two approaches produce spectra in good mutual agreement, and demonstrate the versatility of DGTD via simulations of spherical nanoparticles characterized by surface roughness. The possibility of simultaneously employing both kinds of calculations (analytic and numerical) facilitates a better understanding of the rich optical response of nanophotonic architectures excited by fast electron beams.

Published by the American Physical Society
2024
Unpacking the career transition process of returning women professionals in the Indian workplaces: a qualitative study
Authors: Das Seema , Jha Sumi , Datta Sumita
Published: March 2024

Purpose

This study aims to explore the career transition process of women professionals when they return to the workplace after a break and re-integrate with their career aspirations.

Design/methodology/approach

This research used a qualitative approach with semi-structured interviews for data collection. All 20 women participants have returned to their careers after a break.

Findings

The data analysis reveals women’s career transition and re-integration process into the workplace after a career break. Supervisory support, work–life balance practices, role models, coworker support and career success emerged as factors enabling successful transition. The employing organisations’ diversity, equity and inclusion (DEI) hiring strategy emerged as an important mechanism for re-entry.

Originality/value

Although previous research has studied women professionals returning after a break, the “transition process” that enables re-entry is missing.
Identifying capabilities and constraints in utilizing blockchain technology in hospitality and tourism
Authors: Acikgoz Fulya , Stylos Nikolaos , Lythreatis Sophie
Published: March 2024

Purpose

The purpose of this study synthesises the body of research revolving around blockchain technology (BCT) whilst drawing on the technology-organization-environment framework, resource-based theory and theory of constraints, to conceptualize capabilities (enablers) and constraints (barriers) of BCT in the hospitality and tourism (H&T) industry.

Design/methodology/approach

A systematic literature review of BCT in the hotel and tourism industry has been achieved through two databases, i.e. Scopus and Web of Science. From 544 articles selected between the years 2008 and 2023 (first quarter), a sample of 49 articles was used to structure existing research on this subject.

Findings

The findings of this systematic literature review of BCT in the H&T literature establish a solid groundwork for assessing the evolution of this research area over time. Findings are classified into two groups: capabilities (enablers) and constraints (barriers) of BCT based on publication year, different research methods, theoretical underpinnings and applicable contexts.

Originality/value

To the best of the authors’ knowledge, this is one of the first attempts to synthesize studies related to BCT in H&T research by combining three theoretical approaches. It serves as a foundation to evaluate the development of BCT studies in this field.
Customer search strategies of entrepreneurial telehealth firms – how effective is effectuation?
Authors: Pinnock Susanna , Evers Natasha , Hoholm Thomas
Published: March 2024

Purpose

The demand for healthcare innovation is increasing, and not much is known about how entrepreneurial firms search for and sell to customers in the highly regulated and complex healthcare market. Drawing on effectuation perspectives, we explore how entrepreneurial digital healthcare firms with disruptive innovations search for early customers in the healthcare sector.

Design/methodology/approach

This study uses a qualitative, longitudinal multiple-case design of four entrepreneurial Nordic telehealth firms. In-depth interviews were conducted with founders and senior managers over a period of 27 months.

Findings

We find that when customer buying conditions are highly flexible, case firms use effectual logic to generate customer demand for disruptive innovations. However, under constrained buying conditions firms adopt a more causal approach to customer search.

Practical implications

Managers need to gain a deep understanding of target buying environments when searching for customers. In healthcare sector markets, the degree of flexibility customers have over buying can constrain them from engaging in demand co-creation. In particular, healthcare customer access to funding streams can be a key determinant of customer flexibility.

Originality/value

We contribute to effectuation literature by illustrating how customer buying conditions influence decision-making logics of entrepreneurial firms searching for customers in the healthcare sector. We contribute to entrepreneurial resource search literature by illustrating how entrepreneurial firms search for customers beyond their networks in the institutionally complex healthcare sector.