bluuebunny/crossref_metadata_2025 huggingface dataset:
Prognostic Value of Ki‐67, CD31 and Epidermal Growth Factor Receptor Expression in Basal Cell Carcinoma
Authors: Yerebakan Özlem , Çiftçiog͂lu Mehmet Akif , Akkaya Bahar Kiliçarslan , Yilmaz Ertan
Published: November 2023

Recurrence of basal cell carcinoma following treatment is common, and the majority of recurrences appear in the first 3 years. We examined the original tumors of 26 basal cell carcinoma cases, 14 of whom had a recurrence after an average of 3.7 years, and 12 of whom had no recurrence during an average of 4.4 years follow‐up. Using immunohistochemistry, we tested for Ki‐67, CD31 and epidermal growth factor receptor expressions in the tumor tissue. The percentages of expression for Ki‐67, CD31 and epidermal growth factor receptor were significantly higher in the recurrent tumors than in the non‐recurrent ones. Expression of Ki‐67 and CD31 was 271.57 ± 17.91 and 58.1 ± 9.37 for the recurrent group and 187.08 ± 21.48 and 23.9 ± 5.45 for non‐recurrent group respectively (p<0.0001; p<0.0001). Expression of epidermal growth factor receptor was positive in all basal cell carcinoma cells. The staining intensity was strong in 57% of recurrent and 8.3% of non‐recurrent tumors (p=0.014). These results show that Ki‐67, CD31 and epidermal growth factor receptor expression differ between basal cell carcinomas which later recur and those that do not recur.
Bullous Pyoderma Gangrenosum Complicated by Disseminated Intravascular Coagulation with Subsequent Myelodysplastic Syndrome (Chronic Myelomonocytic Leukemia)
Authors: Rogalski Christina , Paasch Uwe , Glander Hans‐Jürgen , Haustein Uwe‐Frithjof
Published: November 2023

A 33‐year‐old woman developed a bullous PG precursing a chronic myelomonocytic leukemia (CMML) complicated by life‐threatening, disseminated, intravascular coagulation after administration of systemic corticosteroids in combination with immunosuppressant and antibiotic agents. Although the association between PG and leukemia, as well as the coincidence of disseminated intravascular coagulation (DIC) and leukemia, is well known, a premonitoring effect of PG in combination with DIC preceding the diagnosis of chronic myelomonocytic leukemia in the same patient has not been reported recently.
The management of digital competence sharing in health care: A qualitative study of managers' and professionals' views
Authors: Hammarén Mira , Pölkki Tarja , Kanste Outi
Published: November 2023

Aim

To describe managers' and professionals' views on the management of digital competence sharing in health care.

Design

A qualitative descriptive study.

Methods

Managers (n = 22) and professionals (n = 12) from two public primary, one public special and one private health care organization in Finland participated in semi‐structured individual interviews between February and May 2022. Data were analysed using inductive content analysis.

Results

Managers' and professionals' views formed six main categories: providing resources and opportunities for digital competence sharing, creating methods and practices for digital competence sharing, managing digital competence, implementing intergenerational learning, creating a friendly and safe digital organizational atmosphere, and promoting digital competence sharing through leadership.

Conclusion

The support of management is significant in promoting the sharing of digital competence in health care organizations. The management of digital competence sharing requires a both resources and a commitment to continuous training and development. It also requires the creation of a collaborative culture to promote mutual learning between professionals and people of different generations.

Impact

Due to rapid technological advancements and the resulting load, it is important to focus on the development and sharing of digital competence among health care professionals. The study indicated that managers should have the ability to identify the strengths of professionals' digital competence and be able to utilize them in promoting digital competence sharing. It also highlighted the specific competency requirements for managers in this context. The results can be applied to the training of health care managers and professionals, particularly around digital competence.

Patient or Public Contribution

No patient or public contribution.

Reporting Method

The Consolidated Criteria for Reporting Qualitative Research (COREQ) checklist was used in the reporting.
Pulsed‐field ablation does not induce esophageal and periesophageal injury—A new esophageal safety paradigm in catheter ablation of atrial fibrillation
Authors: Grosse Meininghaus Dirk , Freund Robert , Koerber Britta , Kleemann Tobias , Matthes Harald , Geller Johann Christoph
Published: November 2023

Introduction

Esophageal injury is one of the most serious complications of pulmonary vein isolation (PVI) with thermic energy sources. Better tissue selectivity of primarily non‐thermic pulsed field ablation (PFA) may eliminate collateral injury, particularly the risk of atrio‐esophageal fistula (AEF).

Objective

To compare the incidence of any (peri)‐esophageal injury following PVI using PFA to thermic energy sources.

Methods

Using endoscopy, endoscopic ultrasound, and electrogastrography before and after PVI, esophageal and periesophageal injury (mucosal lesions, food retention, periesophageal edema, or vagal nerve injury) were assessed following PFA and radiofrequency (RF)‐ or cryoballoon (CB)‐PVI.

Results

Between December 2022 and February 2023, 20 patients (67 ± 10 years, 53% male) undergoing PFA (Farapulse, Boston Scientific) for atrial fibrillation (AF) were studied and compared with a previous cohort of 57 patients who underwent thermic PVI (CB: n = 33; RF: n = 24). Following PFA‐PVI, none of the patients had mucosal lesions, food retention, or ablation‐induced vagal nerve injury; four patients showed periesophageal edema. Following thermic ablation, 33/57 patients (58%) showed esophageal and/or periesophageal injury (CB: 21/33 [64%], RF: 12/24 [50%]), in detail 4/57 mucosal lesions, 18/57 food retention, 17/57 vagal nerve injury, and 20/52 edema. Midterm success rates were similar for all energy sources.

Conclusion

In contrast to thermic ablation tools, PFA is not associated with relevant esophageal and periesophageal injury, and might, therefore, reduce or eliminate the risk of potentially lethal AEF in interventional treatment of AF. The etiology of ablation‐induced periesophageal edema is unknown but has not been shown to be related to lesion progression.
The social lives of viruses and other mobile genetic elements: a commentary on Leeks et al. 2023
Authors: Irby Iris , Brown Sam P.
Published: November 2023

Illustration of life-histories of phages and plasmids through horizontal and vertical transmission (see Figure 1 for more information).
Lysoglycosphingolipids have the ability to induce cell death through direct PI3K inhibition
Authors: Watanabe Ryosuke , Tsuji Daisuke , Tanaka Hiroki , Uno Michael Shintaro , Ohnishi Yukiya , Kitaguchi Shindai , Matsugu Tsuyoshi , Nakae Ryuto , Teramoto Hiromi , Yamamoto Kei , Shinohara Yasuo , Hirokawa Takatsugu , Okino Nozomu , Ito Makoto , Itoh Kohji
Published: November 2023

Sphingolipidoses are inherited metabolic disorders associated with glycosphingolipids accumulation, neurodegeneration, and neuroinflammation leading to severe neurological symptoms. Lysoglycosphingolipids (lysoGSLs), also known to accumulate in the tissues of sphingolipidosis patients, exhibit cytotoxicity. LysoGSLs are the possible pathogenic cause, but the mechanisms are still unknown in detail. Here, we first show that lysoGSLs are potential inhibitors of phosphoinositide 3‐kinase (PI3K) to reduce cell survival signaling. We found that phosphorylated Akt was commonly reduced in fibroblasts from patients with sphingolipidoses, including GM1/GM2 gangliosidoses and Gaucher's disease, suggesting the contribution of lysoGSLs to the pathogenesis. LysoGSLs caused cell death and decreased the level of phosphorylated Akt as in the patient fibroblasts. Extracellularly administered lysoGM1 permeated the cell membrane to diffusely distribute in the cytoplasm. LysoGM1 and lysoGM2 also inhibited the production of phosphatidylinositol‐(3,4,5)‐triphosphate and the translocation of Akt from the cytoplasm to the plasma membrane. We also predicted that lysoGSLs could directly bind to the catalytic domain of PI3K by in silico docking study, suggesting that lysoGSLs could inhibit PI3K by directly interacting with PI3K in the cytoplasm. Furthermore, we revealed that the increment of lysoGSLs amounts in the brain of sphingolipidosis model mice correlated with the neurodegenerative progression. Our findings suggest that the down‐regulation of PI3K/Akt signaling by direct interaction of lysoGSLs with PI3K in the brains is a neurodegenerative mechanism in sphingolipidoses. Moreover, we could propose the intracellular PI3K activation or inhibition of lysoGSLs biosynthesis as novel therapeutic approaches for sphingolipidoses because lysoGSLs should be cell death mediators by directly inhibiting PI3K, especially in neurons.
Nephrology nurses' perspectives working with patients experiencing needle‐related distress
Authors: Duncanson Emily , Le Leu Richard K. , Chur‐Hansen Anna , Masotti Tahlia , Collins Kathryn L. , Burke Anne L. J. , Macauley Luke P. , McDonald Stephen , Jesudason Shilpanjali
Published: November 2023

Background

A key skill of nephrology nursing is cannulation of patients receiving haemodialysis. Traumatic and unsuccessful cannulation experiences, particularly in the initial weeks of haemodialysis, may contribute to the onset of needle distress for patients.

Objectives

To identify the key knowledge, skills and attitudes of nephrology nurses working with haemodialysis patients and the competencies relevant to nephrology nursing working with patients with needle‐related distress.

Design

A qualitative study involving semistructured interviews. Interviews were audio‐recorded, transcribed and deductive, and inductive thematic analysis applied.

Participants

Nephrology nurses (n = 17) were interviewed from a tertiary kidney service in South Australia. Nurses had varying roles and years of experience (range 1–30 years) working with dialysis patients within the service.

Results

Two overarching themes, (1) Flexibility in Practice and Care and (2) Responsibility of Nephrology Nursing, were identified as relevant across all knowledge, skills and attitudes of nephrology nurses working with patients with needle‐related distress. Thirty‐six knowledge, skills and attitudes were identified; 12 related to knowledge, 14 related to skills and 10 were identified as attitudes and were summarised under seven broad competencies.

Conclusion

This study identifies potential knowledge, skills and attitudes and competencies required for nephrology nurses working with patients with needle‐related distress. It highlights strategies that may prevent the onset and worsening of needle‐related distress, as well as reduce it. It also brings to light that nurses desire additional education regarding strategies to improve the patient experience of cannulation and nurse confidence and skill in this area.
Phaeodactylum tricornutum: An established model species for diatom molecular research and an emerging chassis for algal synthetic biology
Authors: Russo Monia T. , Rogato Alessandra , Jaubert Marianne , Karas Bogumil J. , Falciatore Angela
Published: November 2023

Diatoms are prominent and highly diverse microalgae in aquatic environments. Compared with other diatom species, Phaeodactylum tricornutum is an “atypical diatom” displaying three different morphotypes and lacking the usual silica shell. Despite being of limited ecological relevance, its ease of growth in the laboratory and well‐known physiology, alongside the steady increase in genome‐enabled information coupled with effective tools for manipulating gene expression, have meant it has gained increased recognition as a powerful experimental model for molecular research on diatoms. We here present a brief overview of how over the last 25 years P. tricornutum has contributed to the unveiling of fundamental aspects of diatom biology, while also emerging as a new tool for algal process engineering and synthetic biology.
Caught in the act: In situ visualization of bacterial secretion systems by cryo‐electron tomography
Authors: Keck Camille , Enninga Jost , Swistak Léa
Published: November 2023

Bacterial secretion systems, such as the type 3, 4, and 6 are multiprotein nanomachines expressed at the surface of pathogens with Gram‐negative like envelopes. They are known to be crucial for virulence and to translocate bacteria‐encoded effector proteins into host cells to manipulate cellular functions. This facilitates either pathogen attachment or invasion of the targeted cell. Effector proteins also promote evasion of host immune recognition. Imaging by cryo‐electron microscopy in combination with structure determination has become a powerful approach to understand how these nanomachines work. Still, questions on their assembly, the precise secretion mechanisms, and their direct involvement in pathogenicity remain unsolved. Here, we present an overview of the recent developments in in situ cryo‐electron microscopy. We discuss its potential for the investigation of the role of bacterial secretion systems during the host‐bacterial crosstalk at the molecular level. These in situ studies open new perspectives for our understanding of secretion system structure and function.
Mechanisms underlying retardation of aging by dietary energy restriction
Authors: Shimokawa Isao
Published: November 2023

Moderate restriction of dietary energy intake, referred to here as dietary restriction (DR), delays aging and extends lifespan in experimental animals compared with a diet of ad libitum feeding (AL) control animals. Basic knowledge of the mechanisms underlying the effects of DR could be applicable to extending the healthspan in humans. This review highlights the importance of forkhead box O (FoxO) transcription factors downstream of the growth hormone‐insulin‐like growth factor 1 signaling in the effects of DR. Our lifespan studies in mice with heterozygous Foxo1 or Foxo3 gene knockout indicated differential roles of FoxO1 and FoxO3 in the tumor‐inhibiting and life‐extending effects of DR. Subsequent studies suggested a critical role of FoxO3 in metabolic and mitochondrial bioenergetic adaptation to DR. Our studies also verified hypothalamic neuropeptide Y (Npy) as a vital neuropeptide showing pleiotropic and sexually dimorphic effects for extending the healthspan in the context of nutritional availability. Npy was necessary for DR to exert its effects in male and female mice; meanwhile, under AL conditions, the loss of Npy prevented obesity and insulin resistance only in female mice. Overnutrition disrupts FoxO‐ and Npy‐associated metabolic and mitochondrial bioenergetic adaptive processes, causing the acceleration of aging and related diseases.
Production of transgenic periclinal chimeras in pumpkin – a tool for revealing cell fates of L1 meristem
Authors: Chen X. , He S. , Wang Z. , Zhai Y. , Guo W. , Li X.
Published: November 2023

Genetic engineering is commonly used to improve the agronomic traits of crops. However, genetic transformation in pumpkin remains a challenge. Conducting transformation trials, we accidentally created transgenic L1 periclinal chimeras in pumpkins.

Using our modified Agrobacterium‐mediated transformation, we generated transgenic L1 periclinal chimeras which have high value in research on development of the meristem.

Fluorescence observations of transformed L1 cells enabled us to reveal cell fates. These L1 cells can develop into stomata, epidermal hairs, seed coat, and epidermis of the root, stem, leaf, flower, and fruit. These periclinal chimeras can be propagated vegetatively with minimal risk of transgene flow.

This study offers new perspectives on development of the meristem and a promising technique for creating transgenic periclinal chimeras in plants.
Modeling of a Hexagonal Microstrip Patch Antenna for Breast Cancer Detection
Authors: Chowdhury Nure Alam , Wang Lulu , Islam Md Shazzadul , Gu Linxia , Kaya Mehmet
Published: November 2023

Breast cancer is a global problem, and it is inevitable to detect cancerous cells at early stages. In recent years, microwave imaging (MWI) technology has been widely applied in biomedical applications for its nonionizing radiation. Therefore, in this paper, a low profile hexagonal microstrip patch antenna has been proposed for the technology to detect breast cancer. This antenna has wide operating bandwidth of 13.5 GHz (6.6 GHz to 20.1 GHz), and the return loss is as low as −50.83 dB at 8 GHz. To evaluate the antenna performances, the proposed antenna has been simulated in two different simulation software like HFSS and CST MWS. The antenna has achieved a maximum gain of 8.82 dBi with a quasi-omnidirectional radiation pattern. A three-layered human body mimicking breast phantom with different dielectric properties has been designed with and without tumor mimicking tissue. The difference between the dielectric properties of the tumor and the dielectric properties of different layers of breast phantom in the presence of external radiation field can inform the existence of tumor inside the breast phantom. An array of eight elements of proposed antenna is distributed around the breast phantom to detect the tumor with a minimum radius of 2 mm. Because of the low profile and compact in size (7.9 mm×11.4 mm), the proposed antenna is suitable for multistatic MWI technology for breast cancer detection at early stage.
Route-Based Energy Analysis of Hybrid Rail Consists
Authors: Ahuja Nitisha , Martin Jay D. , Yukish Michael A. , Stump Gary M. , Bennett Lorri A. , Schlake Bryan W. , Anstrom Joel R. , Rahn Christopher D.
Published: November 2023

Adding battery locomotives to traditional diesel locomotives to form a hybrid consist has the potential to reduce fuel consumption and emissions in freight rail operations. This paper provides route-based estimates of diesel (hpd/ton) and battery (hpb/ton) power requirements and diesel (gal/ton) and battery (hpbhr/ton) energy requirements for hybrid consists. Given a route-specific power profile, the power split between the battery pack and the diesel engine is optimized to minimize fuel consumption by running the diesel engine at maximum efficiency during the entire route. Simulations for 200-mile round trips between Chicago and Harrisburg show that the diesel power is maximum in low-gradient regions at 1.05 (hpd/ton) and battery power is maximum in hilly regions at 2 (hpb/ton) for discharge and 6.5 (hpb/ton) for charge. Maximum fuel efficiency gains of approximately 60% are seen in the mountains, where 2.09 (hpbhr/ton) of battery energy is needed. Minimum fuel economy gains are observed in flat regions, with 20% fuel consumption reduction. With battery current and voltage limits, the battery pack size increases, and fuel savings decrease.
Experimental Validation of Switched Moving Boundary Modeling of Phase Change Thermal Energy Storage Systems
Authors: Sakakini Trent J. , Gomez Alexander M. , Koeln Justin P.
Published: November 2023

Thermal energy storage (TES) devices use phase change materials (PCMs) to store and release thermal energy. Control-oriented models are needed to predict the behavior of TES devices and experimental validation is necessary to demonstrate the predictive capabilities of these models. This paper presents an experimental validation of a switched moving boundary (MB) approach for modeling TES devices, where the dynamics of the device are captured with fewer states than traditional models. A graph-based modeling approach is used to model heat flow, while the moving boundary captures the time-varying liquid and solid regions of the TES. The model uses a finite state machine (FSM) to switch between four modes of operation based on the state-of-charge (SOC) of the TES. Results show that the switched MB approach has similar accuracy and lower computational cost compared to traditional modeling approaches when predicting the SOC of an experimental TES device.
An Energy-Based Framework for Robust Dynamic Bipedal Walking Over Compliant Terrain
Authors: Karakasis Chrysostomos , Poulakakis Ioannis , Artemiadis Panagiotis
Published: November 2023

Bipedal locomotion over compliant terrain is an important and largely underexplored problem in the robotics community. Although robot walking has been achieved on some non-rigid surfaces with existing control methodologies, there is a need for a systematic framework applicable to different bipeds that enables stable locomotion over various compliant terrains. In this work, a novel energy-based framework is proposed that allows the dynamic locomotion of bipeds across a wide range of compliant surfaces. The proposed framework utilizes an extended version of the 3D dual spring-loaded inverted pendulum (Dual-SLIP) model that supports compliant terrains, while a bio-inspired controller is employed to regulate expected perturbations of extremely low ground-stiffness levels. An energy-based methodology is introduced for tuning the bio-inspired controller to enable dynamic walking with robustness to a wide range of low ground-stiffness one-step perturbations. The proposed system and controller are shown to mimic the vertical ground reaction force (GRF) responses observed in human walking over compliant terrains. Moreover, they succeed in handling repeated unilateral stiffness perturbations under specific conditions. This work can advance the field of biped locomotion by providing a biomimetic method for generating stable human-like walking trajectories for bipedal robots over various compliant surfaces. Furthermore, the concepts of the proposed framework could be incorporated into the design of controllers for lower-limb prostheses with adjustable stiffness to improve their robustness over compliant surfaces.
The Effects of Neuromuscular Training on Sand Versus Hard Surfaces on Physical Fitness in Young Male Tennis Players
Authors: Fernandez-Fernandez Jaime , Nakamura Fábio Yuzo , Boullosa Daniel , Santos-Rosa Francisco Javier , Herrero-Molleda Alba , Granacher Urs , Sanz-Rivas David
Published: November 2023

Purpose: To examine the effects of a neuromuscular training program combining plyometric exercises with acceleration, deceleration, and change-of-direction drills conducted on sand or hard surfaces on the fitness qualities of young male tennis players. Methods: Thirty-one young male players were allocated to a training group performing 12 training sessions on sand or hard surfaces, during a 6-week period. Tests included linear sprint (10-m acceleration with 5-m split times), change of direction (modified 5-0-5 test), vertical jumps (countermovement jump and the 10/5 repeated-jump test), isometric hip abduction and adduction strength, and dynamic balance (Y-balance test). Perceived training loads and muscle soreness were assessed during the intervention. Results: Both training strategies were similarly effective in improving the analyzed fitness components. Group × time interaction effects were noticed, with countermovement jump (P = .032), repeated-jump test (P = .029), and reactive strength index (P = .008) favoring hard surfaces and 5-m sprint (P = .009), dynamic balance (P < .05), adduction strength (P < .05), and abduction strength (P < .001) indices favoring sand. Furthermore, the sand group promoted greater perceived training loads and muscle soreness (P < .05) than the hard group across the intervention period. Conclusion: Neuromuscular training strategies characterized by a relatively low volume (∼35 min), conducted on sand or hard surfaces, promoted similar improvements in the fitness qualities of young tennis players, with selected surface-interaction effects. Training on sand can cause transiently higher training loads and persistently higher muscle soreness, suggesting the need for an adequate familiarization period.
Cervico-thoracic Morel-Lavallée lesion
Authors: Hughes Andrew James , Joseph Vinay Mathew , Roy Kunal , Lougher Laura
Published: November 2023

Morel-Lavallée lesions (MLLs) result from high-energy trauma causing separation of subcutaneous tissue from the underlying tissue, most commonly in the gluteal region or thigh.

We report the case of a woman in her 40s with a fluctuant collection of the cervico-thoracic region following trauma. Further imaging identified an MLL. An orthoplastic approach resulted in non-operative management with a spinal brace. Three months from initial injury, the lesion completely resolved. She was symptom free at final follow-up and discharged.

We present the only recorded case of MLL developing in the cervico-thoracic region. Management posed difficultly as no literature currently exists. We demonstrated conservative management for cervico-thoracic MLL can be effective.

We have described the first documented case of cervico-thoracic MLL. MLL is not exclusive to pelvic injuries and can develop in the cervico-thoracic region. We have shown conservative management is a viable treatment of atypical MLL.
Cardioembolic stroke in the setting of diffuse caseous calcification of the anterolateral papillary muscle
Authors: Gaini Rahul , Le Scott
Published: November 2023

A woman in her 70s was admitted for acute, painless vision loss in the left eye. Examination showed cherry red spot in the macula and plaque in the nasal vessels, consistent with central retinal artery occlusion. MRI orbits revealed multifocal subclinical acute infarcts in the right middle cerebral artery (MCA) territory and bilateral cerebella. Transthoracic echocardiogram showed calcification of the anterolateral papillary muscle. Further characterisation with cardiac MRI elucidated caseous ‘toothpaste-like’ calcification of the muscle complex. Stroke workup was otherwise unremarkable. The patient underwent hyperbaric treatment with mild improvement. Anticoagulation and surgical intervention were deferred due to known risks and unknown benefit for calcific emboli. The patient was continued on her home dual anti-platelet therapy (DAPT) and discharged with a loop monitor. Caseous calcification of the papillary muscle (CCPM) may be a risk factor for cardioembolic stroke. Further discussions on medical and surgical guidelines for CCPM would be beneficial for stroke prevention.
Haemoperitoneum due to ovarian rupture after oocyte retrieval procedure
Authors: Mendez Devin , Annira Samiksha , Ayyash Mariam , Stanton Taylor
Published: November 2023

Transvaginal ultrasound-guided oocyte retrieval is the gold-standard technique for oocyte retrieval that has few associated procedural and post-procedural complications. Rarely, severe complications can occur including haemoperitoneum, for which the incidence reported in the literature is approximately 0.08–0.22%. In this report, we present the case of a nulliparous woman in her late 30s who presented to the hospital with severe abdominal pain following transvaginal ultrasound-guided oocyte retrieval and was found to have extensive haemoperitoneum attributed to ovarian rupture.
PD-1 Inhibition in metastatic high tumour mutational burden (TMB) leiomyosarcoma with clinicopathological correlates
Authors: Pandita Divita , Dave Mrugakshi , Schulte Brian
Published: November 2023

Leiomyosarcoma (LMS) is a subtype of sarcoma derived from smooth muscle cells. Unfortunately, this malignancy has a high rate of metastatic disease. Palliative systemic therapy has historically relied on cytotoxic agents such as doxorubicin, which have low rates of response. Immunotherapy has not been shown to be effective for most patients with sarcoma, including those with LMS. However, this has not been well described for patients with LMS and high tumour mutational burden (TMB). Herein, we report the case of a woman in her late 50s with metastatic high TMB (>10) leiomyosarcoma treated with pembrolizumab.
A novel mutation inRNF216gene in an Indian case with Gordon Holmes syndrome
Authors: Bal Kallupurakkal Arjun , Verma Rajesh , Chakraborty Rajarshi
Published: November 2023

Early-onset cerebellar ataxia has a broad range of challenging differential diagnoses. Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon Holmes syndrome as described by Sir Gordon Holmes in 1908 consists of ataxia with hypogonadism. It is due to mutation inRNF216andOTUD4genes which encode for enzymes in the ubiquitin-proteasome system. In this case report, we describe a 30-year-old male presenting with insidious-onset progressive ataxia with hypogonadotropic hypogonadism, cataract, pan-cerebellar atrophy with bilateral cerebral white matter hyperintensities and a positive homozygous mutation forRNF216making the diagnosis of Gordon Holmes syndrome. The presence of hypogonadism in a patient with ataxia should alert the clinician to look for such a diagnosis.
Aortic dissection during endurance cycling
Authors: Murphy Michael
Published: November 2023

An athletic man in his 40s was brought in to the emergency department by ambulance following a brief episode of central chest pain and dizziness five miles in to a ten mile stationary bike ride. Observations were normal at the scene and there were no ECG changes but he appeared unwell. Further assessment revealed no palpable right radial or brachial pulses and he complained of a severe right frontal headache. CT of the aorta showed an extensive type A dissection with a significantly dilated aortic root. Following emergency cardiothoracic surgery, he was found to have suffered cerebral hypoxia and died.
Primary anorectal amelanotic melanoma with liver, lungs and lymph nodal metastases
Authors: Marak James R , Raj Gaurav , Dwivedi Shivam , Zaidi Ariba
Published: November 2023

Anorectal melanoma (ARM) is an exceedingly rare and very aggressive malignancy. It originates from the melanocytic cells in the anorectal mucosa, which produces melanin. Other mucosal melanomas commonly found in the mucosa of the oral cavity, vulvovaginal, pharynx and urinary tract. Patients usually present with bleeding per rectum, perianal pain and difficulty in defaecation. Distinction of primary anorectal melanoma from other tumours of this region is difficult because of the lack of common imaging features. MRI is the modality of choice for its better tissue characterisation and resolution. There is no standard treatment protocol available mainly due to scarcity of data. Surgery is the mainstay therapy. Herein we present a case of a male patient in his 30s who presented with rectal bleeding and perianal pain. Haematological analysis revealed normocytic normochromic anaemia. MRI detected a mass lesion in the anorectal region. Contrast enhanced CT revealed multiple metastases in the liver, lungs, periportal, mesorectal and inguinal lymph nodes. The diagnosis of the ulcerated anorectal melanoma was established on histopathological examination. The patient underwent abdominoperineal resection (APR) followed by chemotherapy. Afterward the patient presented to the emergency room with respiratory distress for which he was on ventilator support. Sadly, the patient died after four days.
Lost and found: foreign body in submandibular gland
Authors: Bhardwaj Viny , Gautam Vimmi , Verma Hitesh , Bhutada Mayank Dilip
Published: November 2023

A young adult male patient presented with the history of a retained foreign body in the oral cavity. The object in question was a stapler pin that got accidentally lodged while the patient tried removing food particles from his mouth 28 days earlier. Aside from intermittent pain upon digital palpation on the right side of the floor of his mouth, he was asymptomatic. Clinical examination was unremarkable. Plain radiography and a computed tomogram revealed a linear foreign body in the right submandibular gland. The patient underwent a submandibular gland excision, during which a 2 cm long stapler pin was retrieved. This case highlights that not all foreign bodies cause inflammatory reactions as a telltale sign of their presence.
Delirium following pregabalin discontinuation in an individual with no psychiatric or substance use history
Authors: Awasthi Harshal , Vohra Abhimanyu
Published: November 2023

We report about a man in his mid-50s who was prescribed pregabalin (150 mg/day) for neuropathic pain due to a herniated intervertebral disc. Four weeks later, he presented to the emergency room with symptoms consistent with delirium. After ruling out acute intoxication with a substance and neurological causes, collateral information from the family and review of his medical chart indicated potential discontinuation syndrome owing to pregabalin. Following the successful treatment and resolution of delirium, the patient revealed he had been consistently consuming pregabalin doses upwards of 2 g/day over the past 2 weeks, leading to the premature exhaustion of his prescription and an abrupt cessation. The case findings underscore the necessity for physicians to recognise the potential for pregabalin misuse and the associated withdrawal risks, including delirium.
Why do children attend school, engage in other activities or socialise when they have symptoms of an infectious illness? A cross-sectional survey
Authors: Woodland Lisa , Smith Louise E , Webster Rebecca K , Amlôt Richard , Rubin James G
Published: November 2023

Objectives

To prevent the spread of infectious disease, children are typically asked not to attend school, clubs or other activities, or socialise with others while they have specific symptoms. Despite this, many children continue to participate in these activities while symptomatic.

Design and setting

We commissioned a national cross-sectional survey with data collected between 19 November and 18 December 2021.

Participants

Eligible parents (n=941) were between 18 and 75 years of age, lived in the UK and had at least one child aged between 4 and 17 years. Parents were recruited from a pre-existing pool of potential respondents who had already expressed an interest in receiving market research surveys.

Outcome measures

Parents were asked whether their children had exhibited either recent vomiting, diarrhoea, high temperature/fever, a new continuous cough, a loss or change to their sense of taste or smell in the absence of a negative (PCR) COVID-19 test (‘stay-at-home symptoms’) since September 2021 and whether they attended school, engaged in other activities outside the home or socialised with members of another household while symptomatic (‘non-adherent’). We also measured parent’s demographics and attitudes about illness.

Results

One-third (33%, n=84/251, 95% CI: 28% to 39%) of children were ‘non-adherent’ in that they had attended activities outside the home or socialised when they had stay-at-home symptoms. Children were significantly more likely to be non-adherent when parents were aged 45 and younger; they allowed their children to make their own decisions about school attendance; they agreed that their child should go to school if they took over-the-counter medication; or they believed that children should go to school if they have mild symptoms of illness.

Conclusion

To reduce the risk of spreading disease, parents and teenagers need guidance to help them make informed decisions about engaging in activities and socialising with others while unwell.
Medical AI, inductive risk and the communication of uncertainty: the case of disorders of consciousness
Authors: Birch Jonathan
Published: November 2023

Some patients, following brain injury, do not outwardly respond to spoken commands, yet show patterns of brain activity that indicate responsiveness. This is ‘cognitive-motor dissociation’ (CMD). Recent research has used machine learning to diagnose CMD from electroencephalogram recordings. These techniques have high false discovery rates, raising a serious problem of inductive risk. It is no solution to communicate the false discovery rates directly to the patient’s family, because this information may confuse, alarm and mislead. Instead, we need a procedure for generating case-specific probabilistic assessments that can be communicated clearly. This article constructs a possible procedure with three key elements: (1) A shift from categorical ‘responding or not’ assessments to degrees of evidence; (2) The use of patient-centred priors to convert degrees of evidence to probabilistic assessments; and (3) The use of standardised probability yardsticks to convey those assessments as clearly as possible.
Evolution of brain MRI lesions in paediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and its relevance to disease course
Authors: Abdel-mannan Omar , Champsas Dimitrios , Tur Carmen , Lee Vanessa , Manivannan Sharmila , Usman Haroon , Skippen Alison , Desai Ishita , Chitre Manali , Forsyth Rob , Kneen Rachel , Ram Dipak , Ramdas Sithara , Rossor Thomas , West Siobhan , Wright Sukhvir , Palace Jacqueline , Wassmer Evangeline , Hemingway Cheryl , Lim Ming J , Mankad Kshitij , Ciccarelli Olga , Hacohen Yael
Published: November 2023

Background

Lesion resolution is often observed in children with myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD), and asymptomatic lesions are less commonly reported in MOGAD than in multiple sclerosis (MS).

Objective

We aimed to evaluate brain MRI changes over time in paediatric MOGAD.

Methods

Retrospective study in eight UK paediatric neuroscience centres. Acute brain MRI and available follow-up MRIs were reviewed. Predictors for lesion dynamic were evaluated using multivariable regression and Kaplan-Meier survival analyses were used to predict risk of relapse, disability and MOG-Ab status.

Results

200 children were included (MOGAD 97; MS 103). At first MRI post attack, new symptomatic and asymptomatic lesions were seen more often in MS versus MOGAD (52/103 vs 28/97; p=0.002 and 37/103 vs 11/97; p<0.001); 83% of patients with MOGAD showed at least one lesion’s resolution at first follow‐up scan, and 23% had normal MRI. Only 1 patient with MS had single lesion resolution; none had normal MRI. Disappearing lesions in MOGAD were seen in 40% after the second attack, 21% after third attack and none after the fourth attack.

New lesions at first follow-up scan were associated with increased likelihood of relapse (p=0.02) and persistent MOG-Ab serostatus (p=0.0016) compared with those with no new lesions. Plasma exchange was associated with increased likelihood of lesion resolution (p=0.01). Longer time from symptom onset to steroids was associated with increased likelihood of new lesions; 50% increase at 20 days (p=0.01).

Conclusions

These striking differences in lesion dynamics between MOGAD and MS suggest greater potential to repair. Early treatment with steroids and plasma exchange is associated with reduced likelihood of new lesions.
Using nominal group technique to identify the planning considerations for UK Armed Forces medical personnel delivering defence engagement first aid training activities
Authors: Middleton Mark Anthony , Whitaker J
Published: November 2023

Introduction

Defence Medical Services personnel regularly deploy overseas to deliver training activities as part of defence engagement (DE) to positively influence partners and others. There remains scope for medical planners to enhance our understanding of how to optimally use medical staff and assets for DE. We aimed to develop a tool to improve planning for DE activities delivering first aid training.

Methods

We used nominal group technique to conduct a focus group with UK experts in planning first aid training DE activities to identify and prioritise important planning considerations within a conceptual framework based on the Defence Lines of Development. We validated and refined this framework with international experts from partner nation militaries to help strengthen the final planning tool.

Results

We developed a detailed tool covering training curriculum and logistical and infrastructure requirements to deliver safe and effective DE training activities. First aid training engagement priorities include being tailored to the training audience and in harmony with the national or military healthcare services of that country. Messaging around the women, peace and security agenda should be integrated into training packages at conception to be effective.

Conclusions

We propose a planning tool to aid in designing first aid training that considers the necessary components to support meaningful education and effective engagement in support of UK’s strategic goals. We welcome the use of and feedback on this tool and its impact to those planning first aid training activities as part of DE operations.
University hospital center for palliative and supportive care
Authors: Hentsch Lisa , Matis Caroline , Bollondi-Pauly Catherine , Szarnyski-Blocquet Alexandra , Pautex Sophie
Published: November 2023

The Center for Palliative Care and Supportive Care opened in 2019 with the aim of contributing to the implementation of general palliative care in all departments of the Geneva University Hospitals. Built with the aim of supporting care professionals in the management of patients with palliative trajectories and enhancing their professional skills, depending on their specialisation, the centre has laid out recommendations for the palliative management of people with a life-limiting disease. The results of the centre’s actions, carried out in collaboration with these professionals, are encouraging and show a growing use of the recommended tools for the evaluation and management of patients in general palliative care.
Effects of non-invasive ventilation on sleep in chronic hypercapnic respiratory failure
Authors: Shah Neeraj M , Steier Joerg , Hart Nicholas , Kaltsakas Georgios
Published: November 2023

Chronic respiratory disease can exacerbate the normal physiological changes in ventilation observed in healthy individuals during sleep, leading to sleep-disordered breathing, nocturnal hypoventilation, sleep disruption and chronic respiratory failure. Therefore, patients with obesity, slowly and rapidly progressive neuromuscular disease and chronic obstructive airways disease report poor sleep quality. Non-invasive ventilation (NIV) is a complex intervention used to treat sleep-disordered breathing and nocturnal hypoventilation with overnight physiological studies demonstrating improvement in sleep-disordered breathing and nocturnal hypoventilation, and clinical trials demonstrating improved outcomes for patients. However, the impact on subjective and objective sleep quality is dependent on the tools used to measure sleep quality and the patient population. As home NIV becomes more commonly used, there is a need to conduct studies focused on sleep quality, and the relationship between sleep quality and health-related quality of life, in all patient groups, in order to allow the clinician to provide clear patient-centred information.
HL-LHC layout for fixed-target experiments in ALICE based on crystal-assisted beam halo splitting
Authors: Patecki Marcin , Mirarchi Daniele , Redaelli Stefano , Fomin Alex , Hadjidakis Cynthia , Galluccio Francesca , Scandale Walter
Published: November 2023

The Large Hadron Collider (LHC) at the European Organization for Nuclear Research (CERN) is the world’s largest and most powerful particle accelerator colliding beams of protons and lead ions at energies up to 7 Z TeV, where Z is the atomic number. ALICE is one of the experiments optimised for heavy-ion collisions. A fixed-target experiment in ALICE is being considered to collide a portion of the beam halo, split using a bent crystal inserted in the transverse hierarchy of the LHC collimation system, with an internal target placed a few metres upstream of the existing detector. This study is carried out as a part of the Physics Beyond Collider effort at CERN. Fixed-target collisions offer many physics opportunities related to hadronic matter and the quark-gluon plasma to extend the research potential of the CERN accelerator complex. Production of physics events depends on the particle flux on the target. The machine layout for the fixed-target experiment is developed to provide a flux of particles on the target high enough to exploit the full capabilities of the ALICE detector acquisition system. This paper summarises the fixed-target layout consisting of the crystal assembly, the target and the downstream absorbers. We discuss the conceptual integration of these elements within the LHC ring, the impact on ring losses, and expected performance in terms of particle flux on target.
Stability analysis of anisotropic stars in f(R, T) gravity through cracking technique
Authors: Noureen I. , Raza Ali , Mardan S. A.
Published: November 2023

In this article, cracking technique is developed for spherically symmetric compact sources in the framework of f(R, T) gravity, where R denotes Ricci scalar and T stands for trace of energy momentum tensor. The characteristics of a star with anisotropic pressure stresses are investigated by utilizing the Tolman–Kuchowicz spacetime solutions. Modified field equations are developed for a particular model i.e., $$f(R,T)=R+2\gamma T$$

f
(
R
,
T
)
=
R
+
2
γ
T

, where $$\gamma $$
γ
is constant, that are further used to develop expressions for matter density, radial and tangential pressures. A generalized form of the Tolman Oppenheimer Volkoff (TOV) equation is developed for the modified field equations. The consequence of the local density perturbation scheme, as presented by Biswas et al. (Eur Phys J C 80:175, 2020) is considered. The mathematical framework for cracking has been tested on five realistic stars namely, Vela X-1, Cen X-3, SMC X-1, PSR J1614-2230 and PSR J1903+327. The graph of forces distribution of these stars have been observed to check the stability regions. The results of cracking/overturning for various values of the parameters involved in this model are observed by checking the instability regions in the form intervals.
Higgs boson pair production at NLO in the Powheg approach and the top quark mass uncertainties
Authors: Bagnaschi Emanuele , Degrassi Giuseppe , Gröber Ramona
Published: November 2023

We present a new Monte Carlo code for Higgs boson pair production at next-to-leading order in the Powheg-Box Monte Carlo framework. The code is based on analytic results for the two loop virtual corrections which include the full top quark mass dependence. This feature allows to freely assign the value of all input parameters, including the trilinear Higgs boson self coupling, as well as to vary the renormalization scheme employed for the top quark mass. We study the uncertainties due to the top-mass renormalization scheme allowing the trilinear Higgs boson self coupling to vary around its Standard Model value including parton shower effects. Results are presented for both inclusive and differential observables.
Electronic and optical properties of the exponential and hyperbolic Rosen–Morse types quantum wells under applied magnetic field
Authors: Kasapoglu E. , Yücel M. B. , Duque C. A.
Published: November 2023

In this study, we considered the electronic and optical properties of quantum wells with the exponential and hyperbolic Rosen–Morse potentials under an applied magnetic field. Calculations are made within the framework of effective mass and parabolic band approximations. We have used the diagonalization method by choosing a wave function based on the trigonometric orthonormal function to find eigenvalues and eigenfunctions of the confined electron. Our results show that the magnetic field, asymmetry, and confinement parameters cause a significant increase in electron energies and energy differences between the electron states and the blue shift in the absorption peaks. These results can be used to probe materials’ electronic and structural properties and develop new materials with tailored optical properties.